Rare Research Report: Recent Episodes
RDCRN
Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.
Learn more about the RDCRN: https://www.rarediseasesnetwork.org
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journal The Lancet Gastroenterology and Hepatology on June 23, 2026, titled "Dupilumab versus placebo in adults and adolescents with eosinophilic gastritis (DEGAS): a double-blind, placebo-controlled, phase 2, multicentre, randomised controlled trial."
Read the paper here.
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
Transcript:
Eosinophilic gastritis (EoG) is a rare immune disease that occurs when white blood cells called eosinophils build up in the digestive tract in association with injury and inflammation. For individuals with EoG, this makes eating difficult or even impossible. Heartburn, nausea, vomiting, weight loss, and bloating can be painful and lifelong. However, there are currently no FDA-approved medications for EoG.
In this study, researchers investigated the use of dupilumab to improve outcomes for individuals with EoG. Forty-one participants with EoG were given dupilumab or a placebo for 12 weeks. Then, researchers evaluated outcomes, including eosinophil counts in the stomach.
Results showed that dupilumab improved the primary outcome and several secondary outcomes, including gastric eosinophil counts, histopathologic and endoscopic abnormalities, and transcriptomic biomarkers compared to the placebo group. Authors note that these findings provide a framework for larger-scale studies and improve understanding of the mechanisms of inflammation in EoG.
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Brain on May 5, 2026, titled "Genotype–structure–phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4."
Read the paper here.
Learn more about SP-CERN.
Transcript:
Hereditary spastic paraplegia type 4 (SPG4) is the most common form of hereditary spastic paraplegia, a large group of inherited disorders that affect the long nerve pathways carrying movement signals from the brain down the spinal cord to the legs. SPG4 is caused by changes in the SPAST gene. People with SPG4 commonly experience difficulty walking due to muscle weakness and spasticity (muscle rigidity) in the legs, as well as hyperreflexia (overactive bodily reflexes), urinary urgency or bladder dysfunction, and mild loss of vibration sense in the feet. Symptoms and time of disease onset can be very different from person to person, even within the same family. Not much is known about the natural history of SPG4, making it difficult to conduct clinical trials and find new therapies.
In this study, researchers investigated genotype–phenotype correlations and the natural history of early-onset SPG4. The team used deep phenotyping to analyze 206 patients with genetically confirmed SPG4 from seven international centers. Researchers also studied data from an additional 146 patients from previous studies.
Results provide the most detailed natural history of SPG4 to date, creating a framework that links specific genetic variants to different clinical trajectories. Authors note that these findings can improve care and optimize clinical trial design for SPG4.
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Orphanet Journal of Rare Diseases on April 28, 2026, titled "Rigorous genetic diagnosis review in natural history studies."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Developing a New Process to Improve Diagnostic Accuracy in Leukodystrophies.
This summary is based on a paper published in the Orphanet Journal of Rare Diseases on April 28, 2026.
Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. Different leukodystrophies can have many different genetic variants and symptoms, making them difficult to diagnose.
In this study, researchers developed a new process to improve diagnostic accuracy in leukodystrophies. First, genetic counselors with expertise in leukodystrophies review participants’ medical records, assessing the clinical, biochemical, and molecular features. Next, the team assigns diagnostic categories based on the record review. Finally, leukodystrophy physician experts consult for cases that need additional characterization or clarification.
The process has resulted in a large database of individuals with verified leukodystrophy diagnoses, improving identification of patients that can participate in natural history studies and treatment trials. Authors note that this process can also be used by other rare disease groups.
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Developmental Medicine & Child Neurology on April 30, 2026, titled "Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophy."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Measuring Function in Children with Leukodystrophy.
This summary is based on a paper published in the journal Developmental Medicine & Child Neurology on April 30, 2026.
Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. Although all leukodystrophies affect neurological function, the severity and speed of progression can be very different among different types.
In this study, researchers evaluated a tool to measure function in children with leukodystrophy. Ninety-nine caregivers completed four domains (daily activities, mobility, social/cognitive, and responsibility) of a parent-reported assessment called the Pediatric Evaluation of Disability Index-Computer Adapted Test (PEDI-CAT). Researchers compared the results of the daily activities and mobility domains with clinician-administered assessments, including grasp and visual motor integrations subtests, of the Peabody Developmental Motor Scale (PDMS-2) and the 88-item Gross Motor Function Measure (GMFM-88).
Results showed a strong agreement between the PEDI-CAT and the above standard assessments. This suggests that the PEDI-CAT is a reliable way to measure functional abilities in leukodystrophy, especially when clinician-administered assessments are not possible. The authors note that the PEDI-CAT is a potentially critical tool for leukodystrophy families to be able to participate in research remotely.
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Molecular Genetics and Metabolism in March 2026 titled "A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS)."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Developing a New Patient-Centered Approach to Clinical Trial Readiness in Aicardi-Goutières Syndrome.
This summary is based on a paper published in the journal Molecular Genetics and Metabolism in March 2026.
Aicardi-Goutières syndrome (AGS) is a type 1 interferonopathy primarily associated with multisystemic involvement, including severe neurologic impairment. With advancements in therapeutics for disorders such as AGS, there is an urgent need to ensure that patient voices are included early in the design of clinical trials.
In this study, researchers developed a new patient-centered approach to clinical trial readiness and piloted the approach in AGS. First, the team worked with patients and caregivers to identify their health priorities for improvement. Following this, the team engaged a panel of disease experts to identify the priorities applicable in the context of AGS clinical trials (Concepts of Interest). Next, through consensus building among a panel of outcome experts, the team selected Clinical Outcome Assessments able to measure the identified Concepts of Interest. Finally, the team presented the Concepts of Interest and the aligned Clinical Outcome Assessments to patients and caregivers to establish the feasibility of completion of these assessments in clinical trials.
This process led to the identification of a panel of fit-for-purpose Concepts of Interest and Clinical Outcome Assessments pairs that can be used to identify endpoints for future AGS clinical trials and natural history studies. Authors note that this approach can be applied to other leukodystrophies and rare diseases.
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on April 25, 2026, titled "Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation."
Read the paper here.
Learn more about SP-CERN.
Transcript:
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN), a research group of the Rare Diseases Clinical Research Network.
Characterizing Movement Disorders and Treatment Responses in Aicardi-Goutières Syndrome.
This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on April 25, 2026.
Aicardi-Goutières syndrome (AGS) is a genetic autoinflammatory disorder primarily affecting the brain, skin, and immune system. Individuals with AGS can experience a wide range of neurological symptoms, even when they have the same gene mutation, causing many to be misdiagnosed as having cerebral palsy.
In this study, researchers characterized movement disorders and treatment responses in AGS. The team evaluated motor symptoms, neuroimaging, and interferon signatures in seven children with AGS treated with immunomodulatory therapies.
Results show that these therapies were associated with reduced systemic inflammation and stabilized disease. However, only some participants experienced improved motor function, suggesting that established central nervous system injury may limit recovery. Authors note that these findings highlight the need for early recognition and treatment before further injury may occur.
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on April 9, 2026, titled "Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders."
Read the paper here.
Learn more about UCDC.
Transcript:
New research from the Urea Cycle Disorders Consortium (UCDC), a research group of the Rare Diseases Clinical Research Network.
Investigating Self-Reported Health-Related Quality of Life in Adults with Urea Cycle Disorders.
This summary is based on a paper published in the Journal of Inherited Metabolic Disease on April 9, 2026.
Urea cycle disorders (UCDs) are a group of inherited, metabolic disorders characterized by hyperammonemia (high blood ammonia levels). People diagnosed with a UCD often require ongoing health surveillance, long-term treatments, and emergency management for hyperammonemic episodes. Although many studies have focused on health-related quality of life in children with UCDs, fewer have focused on adults.
In this study, researchers investigated self-reported health-related quality of life in adults with UCDs. The team assessed patient-reported outcome measures in 144 adults with UCD.
Results reveal that adults with UCDs report similar health-related quality of life as adults in the general population. Despite significant differences in measured cognitive ability, symptomatic and asymptomatic individuals reported similar behavioral health and daily functioning scores. Authors note that more studies are needed to better understand and measure health-related quality of life in people with UCDs.
New research from The IMPACT Study. This summary is based on a paper published in the journal Research and Practice in Thrombosis and Haemostasis on January 20, 2026, titled "Optimizing the management of congenital thrombotic thrombocytopenic purpura."
Read the paper here.
Learn more about IMPACT.
Transcript:
New research from The IMPACT Study, a research group of the Rare Diseases Clinical Research Network.
Advancing Treatment in Congenital Thrombotic Thrombocytopenic Purpura.
This summary is based on a paper published in the journal Research and Practice in Thrombosis and Haemostasis on January 20, 2026.
Congenital thrombotic thrombocytopenic purpura (cTTP) is a disorder in which blood clots form in the small blood vessels throughout the body. cTTP is caused by mutations in the ADAMTS-13 gene, leading to microvascular thrombosis (abnormal clotting), hemolytic anemia (destruction of red blood cells), and organ damage.
In this review, researchers summarize the clinical course, complications, and advances in treatment of cTTP. The team reviewed registry data, clinical studies, expert guidelines, and real-world patient experiences, including pregnancy management.
Results suggest that recombinant ADAMTS-13, a therapy that helps restore the ADAMTS13 enzyme, is more effective, safe, and convenient than the standard plasma therapy. Authors note that although recombinant ADAMTS-13 represents a major advance in cTTP management, more studies are needed to evaluate its long-term safety, particularly during pregnancy, and to optimize treatment strategies.
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the Journal of Neurology on March 23, 2026, titled "Half a century of change: demographic trends and their clinical impact in acetylcholine receptor antibody-positive myasthenia gravis."
Read the paper here.
Learn more about MGNet.
Transcript:
New research from the Myasthenia Gravis Rare Disease Network (MGNet), a research group of the Rare Diseases Clinical Research Network.
Investigating the Impact of Demographic Trends on Disease Prognosis in Myasthenia Gravis.
This summary is based on a paper published in the Journal of Neurology on March 23, 2026.
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which compromises nerve muscle communication, causing disabling weakness. In the past 50 years, the epidemiology of MG—how often it occurs in different groups of people and why—has changed over time. However, not much is known about how these changes have impacted management of MG.
In this study, researchers investigated how demographic trends have affected disease prognosis in MG. The team assessed demographics, MG subtypes, and antibody status over 50 years in 1,023 patients with AChR-MG. In 517 patients, the team also evaluated treatment response and adverse events over 20 years.
Results show an increased rate of patients diagnosed with very late-onset MG. Authors note that patients with very late-onset MG may face an increased risk of long-term treatment exposure and adverse events, especially in elderly patients.
New research from the Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR). This summary is based on a paper published in the American Journal of Medical Genetics in January 2026 titled "Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Methods, and Diagnostic Characteristics for the GALAXY Registry."
Read the paper here.
Learn more about NASCARR.
Transcript:
New research from the Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR), a research group of the Rare Diseases Clinical Research Network.
Creating a Patient Registry to Improve Health Outcomes for Individuals with Sex Chromosome Aneuploidies.
This summary is based on a paper published in the American Journal of Medical Genetics in January 2026.
Sex chromosome aneuploidies (SCAs) are a group of conditions in which an individual has either extra or missing X and/or Y chromosomes present in the cells of their body. Although SCAs are the most common chromosomal abnormality, they are often underdiagnosed. Research in SCAs has been limited by over-representation of more severely impacted individuals in clinical studies, as well as low geographic and demographic diversity.
In this study, researchers partnered with the SCA community to create a patient registry to improve health outcomes for individuals with SCAs. The Generating Advancements with Longitudinal Analysis in X and Y variations (GALAXY) Registry helps advance SCA research by collecting, storing, and analyzing clinical data from SCA patients.
To date, GALAXY includes hundreds of participants with a verified diagnosis of SCA. Next, researchers plan to recruit more individuals from underrepresented groups, extract medical record data into the registry, expand internationally, and continue to engage with the SCA community. Authors note that the GALAXY Registry is a powerful resource for future patient-centered clinical research.
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Movement Disorders on March 18, 2026, titled "The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients."
Read the paper here.
Learn more about SP-CERN.
Transcript:
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN), a research group of the Rare Diseases Clinical Research Network.
Characterizing the Spectrum of ATP1A3-Related Disorders.
This summary is based on a paper published in the journal Movement Disorders on March 18, 2026.
ATP1A3-related disorders are a group of neurological conditions caused by mutations in the ATP1A3 gene. Due to the broad spectrum of clinical features and disease-causing variants, it can be challenging to classify these disorders.
In this study, researchers characterized the spectrum of ATP1A3-related disorders. The team evaluated 88 individuals with pathogenic or likely pathogenic variants in ATP1A3. Researchers used these observations to explore symptoms and genotype–phenotype relationships, as well as build a video archive.
Results reveal that most individuals with ATP1A3-related disorders show overlapping or atypical features, including presentations with progressive spastic paraparesis, which is typical of hereditary spastic paraplegia. Authors note that these findings support a shift toward flexible clinical approaches based on symptoms rather than relying on rigid classifications.
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal HGG Advances on January 15, 2026, titled "Two commonly reported incidental variants in OTC are associated with late-onset disease."
Read the paper here.
Learn more about UCDC.
Transcript:
New research from the Urea Cycle Disorders Consortium (UCDC), a research group of the Rare Diseases Clinical Research Network.
Exploring the Impact of Ornithine Transcarbamylase Gene Variants in Asymptomatic Individuals.
This summary is based on a paper published in the journal HGG Advances on January 15, 2026.
Ornithine transcarbamylase deficiency (OTCD) is a type of urea cycle disorder characterized by hyperammonemia (high blood ammonia levels) due to deficiency or absence of an enzyme needed to convert nitrogen from protein into urea (a waste product). As genetic testing becomes more widely utilized in a variety of clinical contexts, an increasing number of asymptomatic individuals with variants in the OTC gene are being identified incidentally. However, there is a lack of guidance for counseling and management of these individuals.
In this study, researchers explored the impact of OTC variants in asymptomatic individuals. The team reviewed medical records, the Urea Cycle Disorders Consortium database, and published reports to characterize two common OTC gene variants. Researchers also tested the variants in a lab yeast model to measure enzyme activity.
Results revealed a risk of late-onset hyperammonemia for males with the two common OTC gene variants. Common triggers included fasting, illness, and high-protein diets. Authors note that these findings can help guide counseling of individuals with these variants, including the importance of knowing the signs and symptoms of hyperammonemia as well as potential triggering factors.
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the American Journal of Speech-Language Pathology on January 13, 2026, titled "Language Skills in Patients With Alexander Disease."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Investigating Language Skills in Children with Alexander Disease.
This summary is based on a paper published in the American Journal of Speech-Language Pathology on January 13, 2026.
Alexander disease is a rare disorder of the nervous system characterized as a leukodystrophy, a group of disorders affecting the myelin (the fatty coating surrounding nerve fibers). People with Alexander disease may have trouble walking, speaking, and swallowing.
In this study, researchers investigated the relationship between disease characteristics, age, and language skills in patients with Alexander disease. First, the team used clinical and imaging features to determine disease subtypes—including cerebral, intermediate, and bulbospinal—among 82 participants. Next, they used developmentally appropriate tests to assess participants' language and functional communication abilities. Then, they used statistical methods to find differences across groups.
Results showed that overall, cerebral patients experienced the most significant language deficits compared to intermediate and bulbospinal patients. Authors note that these findings can be used to better understand the impact of communication deficits and to provide accommodations and interventions in treatment plans for patients with Alexander disease.
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Brain on February 5, 2026, titled "Diagnostic yield of genome sequencing in children with progressive movement disorders."
Read the paper here.
Learn more about SP-CERN.
Transcript:
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN), a research group of the Rare Diseases Clinical Research Network.
Evaluating the Use of Genome Sequencing in Diagnosing Children with Progressive Movement Disorders.
This summary is based on a paper published in the journal Brain on February 5, 2026.
Childhood-onset movement disorders have a large range of symptoms and genetic causes. Over 500 different genes are associated with these disorders. However, standard genetic testing may not detect some of the genetic variants.
In this study, researchers evaluated the use of genome sequencing in diagnosing children with progressive movement disorders. First, the team used whole genome sequencing to identify variants in 100 children and young adults with early-onset progressive movement disorders and prior nondiagnostic testing. Then, a multidisciplinary team interpreted the variants and matched them with different phenotypes.
Results included a molecular diagnosis in 27% of cases, with candidate variants identified in an additional 33%. Short-read whole genome sequencing showed a small increase in diagnoses over exome sequencing. Most of the diagnoses were achieved through reanalysis of exome-level data. Authors note that these findings highlight the importance of repeat variant interpretation and the need for improved analytic pipelines to fully realize the potential of genome sequencing.
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on January 9, 2026, titled "Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Exploring the Use of Glial Fibrillary Acidic Protein as a Biomarker in Alexander Disease.
This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on January 9, 2026.
Alexander disease is a rare disorder of the nervous system characterized by leukodystrophy, or the destruction of myelin (the fatty coating surrounding nerve fibers). In patients with Alexander disease, variants in the GFAP gene lead to the buildup of glial fibrillary acidic protein (GFAP) in the body. Not much is known about the relationship between GFAP levels and disease characteristics.
In this study, researchers explored the use of GFAP as a biomarker in Alexander disease. First, the team collected cerebrospinal fluid and plasma from participants with and without Alexander disease. Next, they compared the concentration of GFAP over time between these groups, including those with common disease characteristics or genetic variants.
Results showed that GFAP increases over time in young children with Alexander disease. The highest concentrations of GFAP were seen in those with the cerebral disease type. Authors note that these findings are a critical initial step in defining biomarker validation and context of use for GFAP in Alexander disease.
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Journal of Child Neurology in February 2026 titled "Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Reviewing Pathology and Interventions in Cerebral X-Linked Adrenoleukodystrophy.
This summary is based on a paper published in the Journal of Child Neurology in February 2026.
X-linked adrenoleukodystrophy (ALD) is a disorder on the X chromosome characterized by the disruption in fat metabolism (break down) which leads to the accumulation of long-chain fatty acids throughout the nervous system, adrenal glands, and testes. More than half of male patients with ALD develop progressive, inflammatory cerebral demyelination (loss of the fatty coating surrounding nerves). Treatment for cerebral ALD is limited, with no standard therapies available for the advanced form.
In this study, researchers reviewed pathology and interventions in cerebral X-linked ALD. The review included over 50 years of published literature and expert opinion from clinicians caring for patients around the world. From these sources, the team gathered information on immunopathology, biomarkers, and therapies tested.
Findings revealed insights on inflammation and immunomodulation in cerebral X-linked ALD. Authors note that these findings highlight the potential of a future clinical trial of immunomodulatory agents for advanced cerebral ALD.
New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology in December 2025 titled "Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data."
Read the paper here.
Learn more about NAMDC.
Transcript:
New research from the North American Mitochondrial Disease Consortium (NAMDC), a research group of the Rare Diseases Clinical Research Network.
Using a New Statistical Technique for Accelerometer Data to Assess a Treatment for Mitochondrial Disease.
This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology in December 2025.
Mitochondrial diseases are multisystemic, genetic disorders involving dysfunction of the mitochondria (specialized cell structures that produce energy), which affects cellular metabolism. Development of new therapies for mitochondrial diseases is difficult due to a lack of outcome measures.
In this study, researchers used a new statistical technique for accelerometer data to assess a treatment for mitochondrial disease. First, the team collected data over several clinic visits from 14 patients with thymidine kinase 2 deficiency (TK2d), an ultra-rare autosomal recessive mitochondrial disease, in a clinical trial for nucleoside therapy. Next, the team used a combination of functional data analysis and longitudinal mixed-effects linear regression to compare accelerometer data over the course of treatment.
Results showed that nucleoside therapy resulted in significant improvement in activity levels among TK2d patients. Authors note that these findings could reveal a possible primary outcome biomarker in clinical trials for mitochondrial diseases as well as other types of diseases, both rare and common.
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on November 6, 2025, titled "Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia."
Read the paper here.
Learn more about SP-CERN.
Transcript:
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN), a research group of the Rare Diseases Clinical Research Network.
Assessing Health-Related Quality of Life in Children with Rare Forms of Hereditary Spastic Paraplegia.
This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on November 6, 2025.
Hereditary spastic paraplegia (HSP) is a large group of inherited disorders that affect nerves that send messages to the muscles. Patients with HSP commonly have difficulty walking due to muscle weakness and spasticity (muscle rigidity) in the legs. In patients with rare forms of HSP, these symptoms can be more complex, including developmental delay, intellectual disability, movement disorders, dysphagia (difficulty swallowing), or incontinence. While previous studies have examined how common forms of HSP affect health-related quality of life, less is known about the impact of rare childhood-onset forms.
In this study, researchers assessed health-related quality of life in 80 children with rare forms of HSP. Using the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) and clinician-reported outcomes, the team examined how clinical features, age, and genotype correlate with quality of life.
Results showed that CPCHILD can be used to assess many different forms of childhood-onset HSP. Lower scores were seen in children with more complex forms. Motor, autonomic, and bulbar symptoms had the largest impact. Authors note that these insights can help clinicians prioritize interventions and inform strategies to improve quality of life for children with HSP.
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on January 5, 2026, titled "Diagnostic Utility of the ATG9A Ratio in AP-4–Associated Hereditary Spastic Paraplegia."
Read the paper here.
Learn more about SP-CERN.
Transcript:
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN), a research group of the Rare Diseases Clinical Research Network.
Investigating the ATG9A Ratio as a Diagnostic Tool for Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia.
This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on January 5, 2026.
Hereditary spastic paraplegia (HSP) is a group of inherited neurological disorders that cause the upper motor neurons to slowly degenerate, leading to progressive muscle stiffness and leg weakness. Adaptor protein complex 4–associated HSP (AP-4-HSP) is a childhood-onset and complex form of HSP that causes mislocalization—buildup in the wrong location—of the protein ATG9A. Gradual progression of initial symptoms, similarity with other developmental conditions like cerebral palsy, and unknown significance of genetic variants can make it challenging to diagnose AP-4-HSP.
In this study, researchers investigated the ATG9A ratio as a diagnostic tool for AP-4-HSP. The team measured the mislocalization of ATG9A in eight patients with suspected AP-4-HSP and genetic variants of unknown significance.
Results demonstrated loss of AP-4 function in six of the participants, revealing new disease-causing genetic variants. Authors note that the ATG9A ratio is a useful tool for diagnosing AP-4-HSP and classifying new genetic variants, which can help determine eligibility for clinical trials and guide treatment decisions.
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Molecular Genetics and Metabolism in December 2025 titled "Measuring dietary intake among participants with a urea cycle disorder using standard diet records or a novel food photography app."
Read the paper here.
Learn more about UCDC.
Transcript:
New research from the Urea Cycle Disorders Consortium (UCDC), a research group of the Rare Diseases Clinical Research Network.
Evaluating a New Food Photography App for Measuring Dietary Intake in Urea Cycle Disorders.
This summary is based on a paper published in the journal Molecular Genetics and Metabolism in December 2025.
Urea cycle disorders (UCDs) are a group of inherited, metabolic disorders characterized by hyperammonemia (high blood ammonia levels). Nutrition management can help prevent hyperammonemia by limiting protein intake while providing enough energy for growth. However, traditional methods of assessing dietary intake—including three-day diet records, 24-hour recalls, and food frequency questionnaires—are often time-consuming and inaccurate.
In this study, researchers evaluated a new food photography app for measuring dietary intake in individuals with UCDs. Eight participants used the new app, mFood, to take photos of meals and snacks for remote analysis by a registered dietician. The team then compared the accuracy of mFood with traditional three-day diet records.
Results revealed few statistical differences between mFood and traditional methods. However, the majority of participants preferred using mFood, offering a more convenient way for individuals with UCDs to collect nutrition information.
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Oral Surgery, Oral Medicine, Oral Pathology, and Oral Radiology on September 16, 2025, titled "Quantitative assessment of the temporomandibular joints in patients with osteogenesis imperfecta: a CBCT study."
Read the paper here.
Learn more about BBDC.
Transcript:
New research from the Brittle Bone Disorders Consortium (BBDC), a research group of the Rare Diseases Clinical Research Network.
Assessing Temporomandibular Joints in Patients with Osteogenesis Imperfecta.
This summary is based on a paper published in the journal Oral Surgery, Oral Medicine, Oral Pathology, and Oral Radiology on September 16, 2025.
Osteogenesis imperfecta (OI) is a group of inherited connective tissue disorders associated with a wide range of symptoms, including fragile bones that break easily. Individuals with OI can experience problems with bone formation and function.
In this study, researchers assessed temporomandibular joints—which connect the jawbone to the skull—in patients with OI. First, the team used cone-beam computed tomography (CBCT) to create 3D images of the temporomandibular joints of 48 OI patients and 48 age- and sex-matched controls. Next, they evaluated mandibular condylar volume and height.
Results showed that individuals with OI had significantly reduced condylar volume and height. Authors note that these findings indicate impaired and delayed condylar development consistent with overall skeletal maturation delay in OI.
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Movement Disorders on December 9, 2025, titled "Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26)."
Read the paper here.
Learn more about SP-CERN.
Transcript:
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN), a research group of the Rare Diseases Clinical Research Network.
Evaluating Plasma Neurofilament Light Chain as a Biomarker for Hereditary Spastic Paraplegia-SPG11 and -ZFYVE26.
This summary is based on a paper published in the journal Movement Disorders on December 9, 2025.
Hereditary spastic paraplegia (HSP) is a large group of inherited disorders that affect nerves that send messages to the muscles. HSP-SPG11 and HSP-ZFYVE26 are autosomal-recessive forms of HSP, meaning that they are caused by two mutated copies of a gene. More information is needed about measurable signs of these disorders for new therapeutic trials.
In this study, researchers evaluated plasma neurofilament light chain (pNfL) as a biomarker for HSP-SPG11 and HSP-ZFYVE26. The team analyzed pNfL levels in 57 patients with HSP, collecting clinical and biomarker data over five years.
Results showed significantly elevated baseline pNfL levels in patients with HSP, reflecting early neuroaxonal injury. However, authors note that baseline pNfL did not help predict future disease progression.
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Movement Disorders on December 2, 2025, titled "Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases."
Read the paper here.
Learn more about SP-CERN.
Transcript:
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN), a research group of the Rare Diseases Clinical Research Network.
Exploring the Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia.
This summary is based on a paper published in the journal Movement Disorders on December 2, 2025.
Hereditary spastic paraplegia (HSP) is a large group of inherited disorders that affect nerves that send messages to the muscles. Individuals with early-onset HSP can experience movement disorders, but not much is known about why and how often they occur.
In this study, researchers explored the spectrum of movement disorders in early-onset HSP. The team analyzed data from 428 children and young adults with HSP, reviewing clinical characteristics and video examinations.
Results showed that movement disorders—including dystonia, parkinsonism, and ataxia—were common in childhood-onset HSP. Authors note that routine screening and management tailored to specific genotypes of movement disorders—especially dystonia—may improve functional outcomes and quality of life.
New research from the Congenital and Perinatal Infections Consortium (CPIC). This summary is based on a paper published in the journal Seminars in Fetal and Neonatal Medicine on September 25, 2025, titled "Advancements and potential in the prevention of congenital CMV infection."
Read the paper here.
Learn more about CPIC.
Transcript:
Congenital cytomegalovirus (CMV) is a herpes viral infection that occurs before birth. CMV is a common virus that affects people of all ages and usually does not cause symptoms in healthy children and adults. However, some babies born with CMV can have health problems at birth or that develop later, including neurodevelopmental delay and hearing loss.
Over the past 30 years, many new strategies for prevention of congenital CMV infection have emerged. These include education initiatives, behavioral modifications, and maternal antiviral prophylaxis.
In this review, authors explore different levels of congenital CMV prevention, including the potential for development of effective vaccines for CMV.
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology on September 4, 2025, titled "Artificial intelligence in the detection and management of eosinophilic gastrointestinal diseases: Applications, challenges, and future outlook."
Read the paper here.
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
Transcript:
Eosinophilic gastrointestinal disorders (EGIDs) are a group of chronic immune system disorders in which a type of white blood cell (eosinophils) build up in the gastrointestinal tract, causing inflammation or injury. Some types of EGIDs—particularly non-eosinophilic esophagitis (EoE)—are not well characterized, with management relying on expert opinion.
In this article, researchers from CEGIR—including the principial investigator and two scholars—collaborate to explore the use of artificial intelligence (AI) tools in the detection and management of EGIDs. The team outlines present and future AI applications, including prediction of disease trajectories, personalization of treatment, clinical decision support, patient education, and clinical monitoring.
Authors note that although AI holds potential to enhance EGID diagnosis and management, realizing this promise will require nuanced, multifaceted evaluation of its ability to positively transform research and clinical practice.
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the Journal of Autism and Developmental Disorders on October 25, 2025, titled "Characterizing Key Correlates of Sleep Problems Across Rare Neurodevelopmental Genetic Disorders."
Read the paper here.
Learn more about DSC.
Transcript:
Neurodevelopmental genetic disorders (NGDs) are a spectrum of conditions that affect how the brain functions. Individuals with NGDs often experience sleep problems, which also affects their ability to function during the daytime. Despite these common issues, not much is known about predictors of sleep problems in NGDs.
In this study, researchers characterized key factors that correlate with sleep problems in rare NGDs. Parents of 173 individuals with rare NGDs—including PTEN hamartoma tumor syndrome, SYNGAP1, NFIX, and a mixed group of other NGDs—completed the Neurobehavioral Evaluation Tool. The team used these evaluations to characterize sleep phenotypes across disorders and examine predictors of poor sleep.
Results highlighted the elevated severity of sleep problems in NGDs, particularly in those with SYNGAP1. Predictors for each sleep problem varied, suggesting that accurate assessment and diagnosis of sleep problems—as well as evaluation of correlates of sleep difficulties—are required in order to provide targeted interventions in rare NGDs.
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Epilepsia on November 19, 2025, titled "Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex."
Read the paper here.
Learn more about DSC.
Transcript:
Tuberous sclerosis complex (TSC) is a genetic disorder that leads to the growth of non-cancerous tumors in multiple organs. In the brain, these include “tubers,” areas of abnormal tissue just beneath the cortical surface that can cause seizures and disrupt normal brain function. Magnetic resonance imaging (MRI) is commonly used to identify how many tubers are present, how large they are, and where they are located. These features often relate to the type and severity of a person’s neurological symptoms.
In this study, researchers created a fully automated neural network (an artificial intelligence-based program) to detect tubers on MRI and measure their total volume. They trained the model using 263 brain MRI scans from 196 individuals with TSC. They then compared the algorithm’s performance with measurements made by an expert neuroradiologist.
The algorithm’s estimates of total tuber load showed an almost perfect match with the expert standard. The authors conclude that this tool provides an objective and consistent way to identify and measure tubers, which may improve the reliability of TSC research across different sites.
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Muscle & Nerve on November 20, 2025, titled "Building a Quantitative Telemedicine Platform for Myasthenia Gravis: Augmenting the Physical Examination."
Read the paper here.
Learn more about MGNet.
Transcript:
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors in muscles, causing disabling weakness. Detailed physical examinations are required to help understand the fluctuation of symptoms, presenting unique challenges for remote assessment.
In this study, researchers review how they built a quantitative telemedicine platform for evaluation of patients with MG. The platform augments traditional neurological assessments using computer vision, signal processing, and augmented intelligence. To develop the technology, the team used video examinations of 52 patients with MG recorded twice, applying machine learning algorithms to extract clinically relevant features from video and audio data.
Results revealed that variations in examiner instructions and video quality significantly affect reliability. Authors note that a digital examination framework can enhance MG assessment precision, reduce variability in physical examination evaluation, and support the telemedicine examination.
New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the Orphanet Journal of Rare Diseases on August 28, 2025, titled "Assessing racial differences in North American hereditary hemorrhagic telangiectasia study recruitment and care."
Read the paper here.
Learn more about BVMC.
Transcript:
New research from the Brain Vascular Malformation Consortium (BVMC), a research group of the Rare Diseases Clinical Research Network.
Assessing Disparities in Access to Clinical Care and Research for Patients with Hereditary Hemorrhagic Telangiectasia.
This summary is based on a paper published in the Orphanet Journal of Rare Diseases on August 28, 2025.
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. Patients with rare diseases like HHT are more likely to experience increased health outcome disparities due to inequitable healthcare.
In this study, researchers assessed disparities in access to clinical care and research for patients with HHT. First, the team collected race data from BVMC study recruits at HHT clinics in Toronto and San Francisco. Next, they compared the racial differences between HHT patients recruited for research and HHT patients in the general population.
Results reveal preliminary evidence of racial differences between HHT center clinic patients and surrounding populations. Findings also show an association between race and enrollment to HHT research studies. Authors note that this study lays the foundation for beginning to address disparities in HHT care and research.
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Journal of Child Neurology in November 2025 titled "Exploration Into Lived Experiences of Multiple Sulfatase Deficiency–Affected Individuals and Their Families."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Working with Caregivers to Capture Lived Experiences of Children with Multiple Sulfatase Deficiency.
This summary is based on a paper published in the Journal of Child Neurology in November 2025.
Rare diseases deeply affect children and families, but their experiences are only incompletely understood—especially for extremely rare conditions like multiple sulfatase deficiency (MSD), a leukodystrophy.
In this study, researchers worked directly with caregivers to capture lived experiences of children with MSD. Nineteen caregivers shared information about their child’s daily skills, emotional health, and overall quality of life, as well as their own well-being. The team used several established questionnaires to measure these areas and compared the results to data from metachromatic leukodystrophy (MLD), a related rare disorder.
Results showed that although children with MSD face significant challenges with daily activities, caregivers reported that emotional well-being was a strength, underscoring the incredible resiliency of the rare disease community. When the team used caregiver-centered tools, they captured a richer picture of what matters most to families, such as coordination of care and emotional support. Caregivers themselves experienced major emotional and practical strain, often feeling grief and isolation, similar to those caring for children with MLD.
Authors note that these insights show why including patient and caregiver perspectives in research is critical. Their input helps identify meaningful outcomes, improves the design of clinical trials, and ensures that future treatments focus on what truly matters to families.
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Proceedings of the National Academy of Sciences of the United States of America on October 21, 2025, titled "Therapeutic IgG- and IgM-specific proteases disarm the acetylcholine receptor autoantibodies that drive myasthenia gravis pathology."
Read the paper here.
Learn more about MGNet.
Transcript:
New research from the Myasthenia Gravis Rare Disease Network (MGNet), a research group of the Rare Diseases Clinical Research Network.
Evaluating the Therapeutic Potential of Immunoglobin G- and Immunoglobin M-Specific Proteases in Acetylcholine Receptor-Positive Myasthenia Gravis.
This summary is based on a paper published in the journal Proceedings of the National Academy of Sciences of the United States of America on October 21, 2025.
Myasthenia gravis (MG) is an autoimmune neuromuscular disorder in which antibodies targeting the acetylcholine receptor (AChR) cause muscle weakness. Current therapies help many patients, but some remain refractory, underscoring the need for more personalized approaches.
In this study, researchers evaluated the therapeutic potential of S-1117, a pan-IgG–specific protease engineered to selectively cleave the Fcγ region of pathogenic AChR-IgG. Using live cell-based assays with monoclonal autoantibodies and patient serum, the team showed that S-1117 effectively impaired IgG-mediated complement activation on AChR-expressing cells.
Importantly, the work uncovered a previously unrecognized MG subset driven by pathogenic AChR-IgM, which either amplified IgG-mediated injury or served as the primary source of complement activation. An IgM-specific protease fully suppressed IgM-driven pathogenicity, and combining IgG- and IgM-targeted enzymes achieved broader inhibition.
These findings reveal critical disease heterogeneity in MG and highlight Ig-specific proteases as a promising precision-medicine strategy to improve treatment for patients with antibody-mediated weakness.
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Human Gene Therapy on September 12, 2025, titled "Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Discovering a New Pathogenic Variant in Canavan Disease.
This summary is based on a paper published in the journal Human Gene Therapy on September 12, 2025.
Canavan disease is a progressive type of leukodystrophy caused by variants in the ASPA gene. In patients with Canavan disease, increased levels of N-acetylaspartic acid lead to symptoms including developmental delay, abnormal muscle tone, and macrocephaly (larger than typical head size). In order for patients to receive a complete diagnosis, all pathogenic variants in the ASPA gene must be identified.
In this study, researchers discovered a new pathogenic variant in Canavan disease. First, the team identified five patients with a clinical and biochemical diagnosis of Canavan disease, but no second pathogenic variant. Next, they used the gene editing tool CRISPR-Cas9 and long-read sequencing technique to analyze the gene structure of ASPA in these patients.
Results revealed a previously unidentified variant of the ASPA gene involving the insertion of an SVA_E retrotransposon into intron 4 of the ASPA gene. Authors note that these findings can improve genetic counseling for families and increase access to gene therapy trials.
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Annals of Neurology on September 6, 2025, titled "A Distinct Immunological Signature in Late-Onset Myasthenia Gravis: Insights from an Exploratory Proteomics Study."
Read the paper here.
Learn more about MGNet.
Transcript:
New research from the Myasthenia Gravis Rare Disease Network (MGNet), a research group of the Rare Diseases Clinical Research Network.
Comparing Differences in Proteins Among Patients with Early-Onset and Late-Onset Myasthenia Gravis.
This summary is based on a paper published in the journal Annals of Neurology on September 6, 2025.
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors in muscles, causing disabling weakness. Patients with early-onset MG develop symptoms before age 50, while patients with late-onset MG develop symptoms after age 50. Not much is known about how early-onset and late-onset MG affect the body differently.
Utilizing sera (the liquid part of blood that remains after coagulation) from the NIH-sponsored BeatMG clinical trial and MGNet, researchers performed proteomics analysis of 768 inflammatory proteins and uncovered a distinct immunological signature that differentiates late-onset from early-onset myasthenia gravis.
Pathways linked to leukocyte differentiation and myeloid cell migration were enriched in late-onset disease. Seven proteins were further replicated in the UK Biobank, and IL18R1, CXCL17, and CCL11 were validated in an independent cohort that were specific to late-onset MG. Investigators note that further studies are needed to confirm the use of these proteins as biomarkers of late-onset MG, as well as their use for improving therapeutic precision and patient outcomes.
New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Biochemistry and Biophysics Reports on August 2, 2025, titled "Common and distinct circulating microRNAs in four neurovascular disorders."
Read the paper here.
Learn more about BVMC.
Transcript:
New research from the Brain Vascular Malformation Consortium (BVMC), a research group of the Rare Diseases Clinical Research Network.
Comparing Circulating microRNAs in Neurovascular Disorders.
This summary is based on a paper published in the journal Biochemistry and Biophysics Reports on August 2, 2025.
Familial cerebral cavernous malformations (FCCM), Sturge-Weber syndrome (SWS), and hereditary hemorrhagic telangiectasia (HHT) are neurovascular disorders caused by genetic mutations that can lead to brain bleeding. Cerebral microbleeds (CMBs) are another type of neurovascular disorder that causes brain bleeding. However, CMBs are more often associated with the aging process than genetic factors.
In this study, researchers compared circulating microRNAs in these four neurovascular disorders. First, the team identified differentially expressed plasma microRNAs from patients with FCCM, SWS, HHT, and CMB. Next, they used analysis techniques to identify gene targets of the differentially expressed microRNAs and their associated pathways.
Results revealed both similarities and differences in microRNAs. Among all four disorders, dysregulated microRNAs targeted the PI3K-Akt and ROBO SLIT signaling pathways. Authors note that these findings reveal shared mechanistic pathways underlying vascular dysmorphism and bleeding, highlighting their potential use for disease monitoring and therapeutic intervention.
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Nature Immunology on June 26, 2025, titled "Mutations in the human CSF1R gene impact microglia’s maintenance of brain white matter integrity."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Examining the Molecular Mechanisms of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.
This summary is based on a paper published in the journal Nature Immunology on June 26, 2025.
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurodegenerative disorder that affects the white matter of the brain. ALSP is caused by mutations in the CSF1R gene, which provides instructions for making a protein called the colony-stimulating factor 1 receptor (CSF1R). This protein plays a crucial role in the growth and survival of immune cells in the brain called microglia.
In this study, researchers examined the molecular mechanisms of ALSP. The team performed single-nucleus RNA sequencing on brain specimens with and without ALSP.
Results revealed distinctive characteristics of ALSP brains, including significantly lower amounts of microglia and impaired maintenance of brain white matter. Authors note that these findings highlight potential therapeutic strategies for ALSP and other genetically caused microgliopathies.
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Frontiers in Immunology on June 17, 2025, titled "Subtype-specific atypical B cell profiles in myasthenia gravis reveal distinct immunopathological pathways."
Read the paper here.
Learn more about MGNet.
Transcript:
New research from the Myasthenia Gravis Rare Disease Network (MGNet), a research group of the Rare Diseases Clinical Research Network.
Exploring the Effect of Atypical B Cells on Immune Response in Myasthenia Gravis.
This summary is based on a paper published in the journal Frontiers in Immunology on June 17, 2025.
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors (AChR) in muscles, causing disabling weakness. Subtypes of MG—AChR-positive MG and muscle-specific kinase (MuSK)-positive MG—have different immune responses that may be caused by atypical B cells, an emerging subset of immune cells implicated in autoimmunity.
In this study, researchers explored the effect of atypical B cells on immune response in MG. The team used spectral flow cytometry to analyze atypical B cells in individuals with AChR-MG and MuSK-MG as well as healthy controls.
Results revealed that MG subtypes show distinct atypical B cell profiles that are linked to immunopathology and disease onset. Authors note that these findings highlight the potential for atypical B cells as therapeutic targets in both immunoglobin G1-3- and immunoglobin G4-mediated autoimmunity.
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Neurology Neuroimmunology & Neuroinflammation on July 18, 2025, titled "AChR Autoantibody Pathogenic Properties Are Heterogeneously Distributed and Undergo Temporal Changes Among Patients With Myasthenia Gravis."
Read the paper here.
Learn more about MGNet.
Transcript:
New research from the Myasthenia Gravis Rare Disease Network (MGNet), a research group of the Rare Diseases Clinical Research Network.
Investigating Pathogenic Properties of Acetylcholine Receptor Autoantibodies in Myasthenia Gravis.
This summary is based on a paper published in the journal Neurology Neuroimmunology & Neuroinflammation on July 18, 2025.
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which blocks or damages the neuromuscular junction in muscles, causing disabling weakness with characteristic fluctuation in severity over time. The most common form of MG is caused by acetylcholine receptor (AChR) autoantibodies, which either block the AChR, increase their removal from the muscle surface, or block complement.
In this study, researchers investigated the pathogenic properties of AChR autoantibodies in MG and whether they varied over time in relationship to severity of disease. The team analyzed serum specimens from 50 patients with MG collected every six months for two years. Next, they used live cell-based assays to measure AChR autoantibody isotypes, immunoglobulin G subclasses, and the nature of the pathogenic mechanisms.
Results showed that the pathogenic mechanisms of the antibodies fluctuated over time and were generally not associated with disease severity. Authors concluded that additional studies of autoantibody pathogenicity should be incorporated into MG clinical trials to assess differential treatment responses.
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Families, Systems, and Health on July 10, 2025, titled "Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers."
Read the paper here.
Learn more about BBDC.
Transcript:
New research from the Brittle Bone Disorders Consortium (BBDC), a research group of the Rare Diseases Clinical Research Network.
Exploring Caregiver Experiences, Social Support, and Impact on Family Life in Osteogenesis Imperfecta.
This summary is based on a paper published in the journal Families, Systems, and Health on July 10, 2025.
Osteogenesis imperfecta (OI) is a group of inherited connective tissue disorders associated with a wide range of symptoms, including fragile bones that break easily. Not much is known about the psychosocial impact of OI during childhood on caregivers and families.
In this study, researchers explored caregiver experiences, existing social support provided for families affected by OI, and the impact of OI on family life. The team analyzed survey responses from 13 caregivers of individuals with OI to develop themes on the psychosocial impact of OI on the family unit.
Results revealed four themes, including encountering difficult experiences during diagnosis of OI, caregiver well-being and coping, broad family impact, and the existence and further need for social support. Authors note that these findings have implications for child and caregiver well-being and health care professionals during diagnosis, as well as emphasize the need for social support for families affected by OI.
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Clinical Chemistry on April 25, 2025, titled "Congenital Disorder of Glycosylation in a 40-Year-Old Male with Hypogammaglobulinemia."
Read the paper here.
Learn more about FCDGC.
Transcript:
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC), a research group of the Rare Diseases Clinical Research Network.
Diagnosing a New Case of Mannosyl-Oligosaccharide Glucosidase-Congenital Disorder of Glycosylation.
This summary is based on a paper published in the journal Clinical Chemistry on April 25, 2025.
Congenital disorders of glycosylation (CDG) are a large group of rare, inherited disorders that affect a complex process in the body called glycosylation. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG is a very rare type of CDG caused by mutations in the MOGS gene.
In this journal article, researchers describe the diagnosis of a new case of MOGS-CDG. The 40-year-old male patient presented with symptoms including pan-hypogammaglobulinemia (low immunoglobulin levels). Researchers performed several tests, including an immune genetic disease gene panel and N-glycan analysis. Results confirmed a diagnosis of MOGS-CDG.
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Brain on June 9, 2025, titled "Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22variants."
Read the paper here.
Learn more about INC.
Transcript:
New research from the Inherited Neuropathy Consortium (INC), a research group of the Rare Diseases Clinical Research Network.
Investigating the Correlation Between Disease Severity and Genetic Variants in Charcot-Marie-Tooth Disease Type 1E.
This summary is based on a paper published in the journal Brain on June 9, 2025. Charcot-Marie-Tooth disease type 1E (CMT1E) is a neuromuscular disorder that affects the peripheral nerves of the feet and hands, leading to neuropathy. Since CMT1E is caused by different kinds of variants in the PMP22 gene, patients can experience a spectrum of mild to severe symptoms. Not much is known about the natural history and symptom progression among these individuals.
In this study, researchers investigated the correlation between disease severity and genetic variants in CMT1E. First, the team evaluated patients with CMT1E during initial and follow-up visits at sites within the Inherited Neuropathy Consortium, documenting clinical characteristics and evaluating changes over time. Next, researchers correlated PMP22 variants with disease severity.Results revealed 24 likely disease-causing PMP22 variants among 50 individuals.
The team found that reduced expression of PMP22 at the cell surface—and the location of missense variants within the transmembrane domain—correlated with disease severity. In addition, pathogenic PMP22 variants located within the transmembrane regions were often found to cause moderate to severe disease beginning in early childhood, impairing trafficking to the plasma membrane.
New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the journal Pediatric Neurology on June 16, 2025, titled "Impact of CLN3 Disease on Child Quality of Life and Family Function."
Read the paper here.
Learn more about LDN.
Transcript:
New research from the Lysosomal Disease Network (LDN), a research group of the Rare Diseases Clinical Research Network.
Evaluating Health-Related Quality of Life and Family Function in CLN3 Disease.
This summary is based on a paper published in the journal Pediatric Neurology on June 16, 2025.
CLN3 disease, also known as Batten disease, is an inherited neurodegenerative disorder that typically starts in childhood. Because CLN3 disease is progressive and fatal, it is likely to affect the health-related quality of life (HRQOL) of both the child and the family.
In this study, researchers evaluated the HRQOL and family function in individuals with CLN3 disease and their families. The team analyzed data from 71 participants who completed assessments on the child HRQOL and family impact. In 21 of these participants, the team also analyzed Unified Batten Disease Rating Scale responses.
Results showed an association between worse child HRQOL and more severe disease symptoms, including physical impairment and functional capability. However, family impact severity was not associated with CLN3 disease symptom severities. While child HRQOL worsened over time, family impact did not significantly change over time. Authors note that these findings may provide important information for clinical care and trial design in CLN3 disease.
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the European Journal of Neurology on June 25, 2025, titled "Validation of the 'Patient-Acceptable Symptom State' Question as Outcome Measure in AChR Myasthenia Gravis: A Multicentre, Prospective Study."
Read the paper here.
Learn more about MGNet.
Transcript:
New research from the Myasthenia Gravis Rare Disease Network (MGNet), a research group of the Rare Diseases Clinical Research Network. Validating the Patient-Acceptable Symptom State (PASS) Question in Acetylcholine Receptor Myasthenia Gravis.
This summary is based on a paper published in the European Journal of Neurology on June 25, 2025.
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors in muscles, causing disabling weakness. New treatments have recently emerged for acetylcholine receptor (AChR) antibody-positive MG (AChR-MG). However, not all patients experience significant improvement, highlighting the importance of including the patient perspective in outcome evaluations.
In this study, researchers validated the Patient-Acceptable Symptom State (PASS) question as an outcome measure in AChR-MG. The team analyzed PASS responses among 173 patients with AChR-MG.
Results confirmed the PASS question as an effective, concise tool to assess AChR-MG patients' satisfaction with their disease control. Authors note that these findings also highlight the relevance of ocular complaints in patients' perception of MG burden.
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on June 18, 2025, titled "Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing."
Read the paper here.
Learn more about DC.
Transcript:
New research from the Dystonia Coalition (DC), a research group of the Rare Diseases Clinical Research Network.
Exploring Genetic Diversity and Phenotypes in Dystonia.
This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on June 18, 2025.
Dystonia is one of the most prevalent movement disorders, characterized by involuntary muscle contractions leading to abnormal postures and repetitive movements. Due to the broad spectrum of clinical manifestations and the increasing number of dystonia-linked genes, not much is known about the correlations between clinical manifestations and genetic variants.
In this study, researchers explored genetic diversity and phenotypes in dystonia. The team used exome sequencing among 1,924 genetically unsolved, mainly late-onset isolated dystonia patients to examine and analyze rare variants in genes previously linked to dystonia.
Results revealed 137 pathogenic or likely pathogenic variants across 51 genes in 163 patients. Authors note that the findings provide crucial insights into the relevance of genetic forms of dystonia and their corresponding phenotypes, aiding future variant interpretation and clinical diagnostics.
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal npj Genomic Medicine on May 20, 2025, titled "Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants."
Read the paper here.
Learn more about DSC.
Transcript:
New research from the Developmental Synaptopathies Consortium (DSC), a research group of the Rare Diseases Clinical Research Network.
Exploring the Relationship Between Genomic Diversity and Neurodevelopmental Versus Cancer Risks in Individuals with PTEN Hamartoma Tumor Syndrome.
This summary is based on a paper published in the journal npj Genomic Medicine on May 20, 2025.
PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders caused by mutations in the PTEN gene, which typically suppresses formation of tumors. Individuals with PHTS have increased risks of cancer and neurodevelopmental disorders, including autism spectrum disorder (ASD). Not much is known about why patients with PHTS are at increased risk for these seemingly unrelated outcomes.
In this study, researchers explored the relationship between genomic diversity and neurodevelopmental versus cancer risks in individuals with PHTS. The team analyzed the genotypes of 376 individuals with PHTS and grouped them according to clinical phenotypes of neurodevelopmental disorders (including ASD) and non-neurodevelopmental disorders (including cancer).
In the neurodevelopmental disorders group, results revealed an increased accumulation of homozygous common variants in genes involved in inflammatory processes. In the ASD group, researchers also found an increased accumulation of homozygous common variants in genes involved in differentiation and chromatin structure regulation. However, in the cancer group, the team found an increased accumulation of homozygous ultra-rare variants in genes modulating cell death.
Authors note that these findings suggest a new concept of genomic diversity as a modifier of neurodevelopmental and malignant phenotypes in those with PHTS. Results also demonstrate potential clinical utility—especially for neurodevelopmental phenotypes—for better PHTS patient management.
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the American Journal of Medical Genetics on June 16, 2025, titled "Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome."
Read the paper here.
Learn more about DSC.
Transcript:
New research from the Developmental Synaptopathies Consortium (DSC), a research group of the Rare Diseases Clinical Research Network.
Using Genome Sequencing to Identify Additional Molecular Diagnoses in Phelan-McDermid Syndrome.
This summary is based on a paper published in the American Journal of Medical Genetics on June 16, 2025.
Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder that results from the loss of a small piece of chromosome 22 or variants in the SHANK3 gene. Symptoms of PMS include intellectual disability, autism spectrum disorder, low muscle tone, and absent speech. However, these symptoms can vary widely from person to person, even among those with the same molecular cause.
In this study, researchers used genome sequencing to identify additional molecular diagnoses that may contribute to symptom variability in PMS. The team analyzed genome sequencing and chromosomal microarray in 20 individuals with PMS.
Results revealed a second molecular finding associated with a neurological condition in three participants. Five additional new molecular diagnoses were associated with a clinically actionable secondary or incidental finding. Authors note that this study provides early evidence for the potential use of expanded sequencing among individuals with PMS, even for those without symptoms outside of the expected range.
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Cells on April 25, 2025, titled "Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13."
Read the paper here.
Learn more about FCDGC.
Transcript:
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC), a research group of the Rare Diseases Clinical Research Network.
Examining Metabolomic Changes in a Patient with PGM1-Congenital Disorder of Glycosylation and Leigh Syndrome.
This summary is based on a paper published in the journal Cells on April 25, 2025.
Inherited metabolic disorders (IMDs) are a large group of genetically inherited disorders that affect the metabolism. Although there are currently about 1,450 different types of IMDs, they are individually rare, and even more rare for one individual to have two IMDs.
In this study, researchers examined metabolism changes in a patient with pathogenic variants in the PGM1 and NDUFA13genes. The team evaluated fibroblasts from the patient, who had presented with characteristics of both PGM1-congenital disorder of glycosylation (CDG) and Leigh syndrome (mitochondrial disease) to better understand the cause of these characteristics.
Results showed a depletion of the UDP-hexose enzyme as well as impairment of complex I enzyme activity and mitochondrial function. Based on these findings, the patient was diagnosed with the first-known case of both PGM1-CDG and Leigh syndrome. Authors note that this study underlines the importance of considering the effects of multiple disease-causing variants in patients with complex clinical presentation.
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on June 2, 2025, titled "Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Characterizing Diagnostic Delays in Metachromatic Leukodystrophy.
This summary is based on a paper published in the Journal of Inherited Metabolic Disease on June 2, 2025.
Metachromatic leukodystrophy (MLD) is a rare inherited disorder that causes progressive damage to the nervous system. The subtypes of MLD are defined by the onset of neurodegeneration, but less is known about the earliest features of this inborn error in metabolism.
In this study, researchers found that many children experience subtle early features in the months to years prior to diagnosis. The early medical journeys of children were mapped using two independent payor-system databases. Every medical encounter prior to diagnosis was captured. Across these cohorts, they found that children frequently presented within the medical system with signs and symptoms of disease, including early developmental delay, feeding issues, gallbladder problems, and abnormal eye movements. This work was complemented by similar findings from an MLD natural history study, which is supported through the GLIA-CTN.
Authors note that this study highlights early features of MLD and defines barriers to diagnosis, further supporting the need for early screening. By better understanding the barriers to diagnosis and characterizing how MLD begins, we can better define clinical monitoring guidelines in presymptomatic children and define ideal windows for intervention to improve outcomes. This work underscores the critical need for newborn screening to definitively diagnose children prior to disease onset.
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Muscle & Nerve on April 2, 2025, titled "Concordance between radioimmunoassay and fixed cell-based assay in subjects without myasthenia gravis: optimizing the diagnostic approach."
Read the paper here.
Learn more about MGNet.
Transcript:
New research from the Myasthenia Gravis Rare Disease Network (MGNet), a research group of the Rare Diseases Clinical Research Network.
Developing an Artificial Intelligence-Based Assessment of Telehealth Examinations in Myasthenia Gravis.
This summary is based on a paper published in the journal Muscle & Nerve on April 2, 2025.
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors in muscles, causing disabling weakness. Although telemedicine is considered a positive tool for both MG patients and physicians, not much is known about its strengths and limitations for MG examinations.
In this study, researchers developed an artificial intelligence-based assessment of telehealth examinations in MG. The team studied video recordings of 51 patients with MG who completed two telemedicine-based examinations with neuromuscular experts. Researchers applied artificial intelligence algorithms including computer vision, speech analysis, and natural language processing to assess the reproducibility and reliability of the examinations.
Results showed that overall MG core examination scores were consistent across examiners. However, individual metrics showed up to 25% variability due to differences in examiner instructions, video recording limitations, and patient disease severity. Authors note that further refinement of this technology could enhance examiner training and reduce variability in clinical trial outcome measures.
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on April 16, 2025, titled "Handling rescue therapy in myasthenia gravis clinical trials: why it matters and why you should care."
Read the paper here.
Learn more about MGNet.
Transcript:
New research from the Myasthenia Gravis Rare Disease Network (MGNet), a research group of the Rare Diseases Clinical Research Network.
Discussing the Impact of Rescue Therapy in Clinical Trials for Myasthenia Gravis.
This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on April 16, 2025.
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors in muscles, causing disabling weakness. Clinical trials for MG aim to evaluate whether a new therapy can improve patients’ symptoms. However, if a study participant experiences worsening symptoms, they typically receive existing therapies to improve their condition. This type of intervention, called “rescue therapy,” could lead to inaccurate information if not appropriately addressed.
In this review, researchers discuss the impact of rescue therapy in MG clinical trials. The team reviews strategies for incorporating rescue therapy in the design and statistical analysis of MG trials, shows how each strategy affects the interpretation of trial results, and suggests circumstances when each strategy may or may not be applicable to patients or physicians.
Authors note that rescue therapy should be considered during the planning phase of clinical trials before designing the statistical analysis, which can improve the robustness of the study and alignment with regulatory recommendations.
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the Clinical Kidney Journal on May 13, 2025, titled "Elevated exposure to air pollutants accelerates primary glomerular disease progression."
Read the paper here.
Learn more about NEPTUNE.
Transcript:
New research from the Nephrotic Syndrome Study Network (NEPTUNE), a research group of the Rare Diseases Clinical Research Network.
Exploring the Relationship Between Air Pollution and Primary Glomerular Diseases.
This summary is based on a paper published in the Clinical Kidney Journal on May 13, 2025. Primary glomerular diseases are a group of conditions that affect kidney function by attacking the glomeruli, which are kidney structures responsible for filtering the blood and removing waste in urine. Recent studies suggest that air pollution contributes to the onset and progression of chronic kidney disease and, specifically, glomerular disease.
In this review, researchers summarize the major sources and components of air pollution, the relationship between air pollution exposure and chronic kidney disease, and the impact of air pollution on the progression of primary glomerular diseases. The team highlights important gaps in knowledge and the need for future collaborative work involving environmental scientists, epidemiologists, and nephrologists.
Authors note that air pollution exposure represents a potentially modifiable risk factor for chronic kidney disease progression that can be addressed by regulatory action, personal behaviors, and intervention to prevent or limit exposure.
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology in Practice in December 2024 titled "Nonepithelial Gene Expression Correlates With Symptom Severity in Adults With Eosinophilic Esophagitis."
Read the paper here: https://www.jaci-inpractice.org/article/S2213-2198(24)00529-4/abstract
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Autism Research on December 6, 2024, titled "Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/aur.3290
Learn more about DSC: https://dsc.rarediseasesnetwork.org
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the Journal of the Peripheral Nervous System on October 10, 2024, titled "Patient-reported disease burden in the Accelerate Clinical Trials in Charcot–Marie–Tooth Disease Study."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/jns.12662
Learn more about INC: https://inc.rarediseasesnetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the European Journal of Neurology on August 8, 2024, titled "Concordance between radioimmunoassay and fixed cell-based assay in subjects without myasthenia gravis: optimizing the diagnostic approach."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/ene.16435
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on November 24, 2024, titled "The clinical utility in hospital-wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA-related disorders."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12821
Learn more about NAMDC: https://namdc.rarediseasesnetwork.org
New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the Orphanet Journal of Rare Diseases on November 9, 2024, titled "Brain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia."
Read the paper here: https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03402-8
Learn more about BVMC: https://bvmc.rarediseasesnetwork.org
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology in November 2024, titled "Long-term durability between parent and child patient-reported outcomes in eosinophilic esophagitis."
Read the paper here: https://www.jacionline.org/article/S0091-6749(24)00740-1/abstract
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Genetics in Medicine on August 9, 2024, titled "Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing."
Read the paper here: https://www.gimopen.org/article/S2949-7744(24)01032-X/fulltext
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Journal of Child Neurology on October 8, 2024, titled "Determination of Health Concepts in β-Propeller Protein–Associated Neurodegeneration."
Read the paper here: https://journals.sagepub.com/doi/10.1177/08830738241283932
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Bioengineering on September 20, 2024, titled "AI-Powered Telemedicine for Automatic Scoring of Neuromuscular Examinations."
Read the paper here: https://www.mdpi.com/2306-5354/11/9/942
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the Porphyrias Consortium (PC). This summary is based on a paper published in the International Journal of Dermatology in November 2024 titled "Observational pilot study of multi-wavelength wearable light dosimetry for erythropoietic protoporphyria."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/ijd.17166
Learn more about PC: https://pc.rarediseasesnetwork.org
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Annals of Neurology on September 25, 2024, titled "Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ana.27045
Learn more about DSC: https://dsc.rarediseasesnetwork.org
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the American Journal of Medical Genetics on September 11, 2024, titled "Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63872
Learn more about DSC: https://dsc.rarediseasesnetwork.org
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Biological Chemistry on July 24, 2024, titled "O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome."
Read the paper here: https://www.jbc.org/article/S0021-9258(24)02100-8/fulltext
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the American Journal of Medical Genetics on October 4, 2024, titled "Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63880
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Annals of Neurology on September 4, 2024, titled "Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ana.27071
Learn more about NAMDC: https://namdc.rarediseasesnetwork.org
New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Mitochondrion on October 15, 2024, titled "An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1567724924001314?dgcid=author
Learn more about NAMDC: https://namdc.rarediseasesnetwork.org
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journal Bone on July 4, 2024, titled "Clinical and molecular correlates of the Index of Severity for Eosinophilic Esophagitis."
Read the paper here: https://www.jacionline.org/article/S0091-6749(24)00465-2/abstract
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology in August 2024 titled "Estimates of primary ciliary dyskinesia prevalence: a scoping review."
Read the paper here: https://publications.ersnet.org/content/erjor/10/4/00989-2023
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) and the Lysosomal Disease Network (LDN). This summary is based on a paper published in the journal Molecular Genetics and Metabolism in August 2024 titled "Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1096719224004050?via%3Dihub
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
Learn more about LDN: https://ldn.rarediseasesnetwork.org
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Developmental Medicine and Child Neurology on September 9, 2024, titled "Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16083
Learn more about INC: https://inc.rarediseasesnetwork.org
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Brain on September 3, 2024, titled "Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease."
Read the paper here: https://academic.oup.com/brain/article/147/9/3144/7628356?login=false
Learn more about INC: https://inc.rarediseasesnetwork.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Kidney International Reports in August 2024 titled "Elevated Exposure to Air Pollutants Accelerates Primary Glomerular Disease Progression."
Read the paper here: https://www.kireports.org/article/S2468-0249(24)01736-4/fulltext
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium. This summary is based on a paper published in the American Journal of Medical Genetics on September 17, 2024, titled "Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.32110
Learn more about PHEFREE: https://phefree.rarediseasesnetwork.org
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Pediatric Neurology in October 2024 titled "Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises."
Read the paper here: https://www.pedneur.com/article/S0887-8994(24)00238-8/abstract
Learn more about UCDC: https://ucdc.rarediseasesnetwork.org
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Bone on July 4, 2024, titled "Cross-sectional and longitudinal analysis of bone age maturation during peri-pubertal growth in children with type I, III and IV osteogenesis imperfecta."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S8756328224001819?via%3Dihub
Learn more about BBDC: https://bbd.rarediseasesnetwork.org
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the Journal of Autism and Developmental Disorders on May 24, 2023, titled "Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex."
Read the paper here: https://link.springer.com/article/10.1007/s10803-023-06004-8
Learn more about DSC: https://dsc.rarediseasesnetwork.org
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Movement Disorders Clinical Practice on August 2, 2024, titled "Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant."
Read the paper here: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.14178
Learn more about INC: https://inc.rarediseasesnetwork.org
New research from the Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium. This summary is based on a paper published in the journal Molecular Genetics and Metabolism on July 22, 2024, titled "Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1096719224004256?dgcid=coauthor
Learn more about PHEFREE: https://phefree.rarediseasesnetwork.org
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Molecular Genetics and Metabolism on June 6, 2024, titled "Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort."
Read the paper here: https://www.sciencedirect.com/science/article/pii/S1096719224003937
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the American Journal of Respiratory and Critical Care Medicine on July 1, 2024, titled "Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis."
Read the paper here: https://www.atsjournals.org/doi/10.1164/rccm.202308-1370OC
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Pediatric Anesthesia on May 31, 2024, titled "A retrospective observational cohort study of the anesthetic management and outcomes of pediatric patients with Alexander disease undergoing lumbar puncture or magnetic resonance imaging."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/pan.14937
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the American Journal of Medical Genetics on July 19, 2024, titled "Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63817
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the Journal of the Peripheral Nervous System on April 5, 2024, titled "A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/jns.12621
Learn more about INC: https://inc.rarediseasesnetwork.org
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Brain on March 25, 2024, titled "RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity."
Read the paper here: https://academic.oup.com/brain/article/147/7/2334/7634823?login=false
Learn more about INC: https://inc.rarediseasesnetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Annals of Neurology on July 15, 2024, titled "Cancer Frequency in MuSK Myasthenia Gravis and Histological Evidence of Paraneoplastic Etiology."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ana.27033
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the Journal of Clinical Investigation on May 16, 2024, titled "Unveiling the proteome-wide autoreactome enables enhanced evaluation of emerging CAR T cell therapies in autoimmunity."
Read the paper here: https://www.jci.org/articles/view/180012
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal npj Digital Medicine on June 20, 2024, titled "PatchSorter: a high throughput deep learning digital pathology tool for object labeling."
Read the paper here: https://www.nature.com/articles/s41746-024-01150-4
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Child’s Nervous System on March 22, 2024, titled "Brain AVM compactness score in children with hereditary hemorrhagic telangiectasia."
Read the paper here: https://link.springer.com/article/10.1007/s00381-024-06366-z
Learn more about BVMC: https://bvmc.rarediseasesnetwork.org
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Movement Disorders Clinical Practice on May 22, 2024, titled "Sex Differences in Dystonia."
Read the paper here: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.14059
Learn more about DC: https://dc.rarediseasesnetwork.org
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Annals of Neurology on April 5, 2024, titled "Blood-Based Proteomics for Adult-Onset Focal Dystonias."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ana.26929
Learn more about DC: https://dc.rarediseasesnetwork.org
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the Journal of Neurodevelopmental Disorders on May 23, 2024, titled "Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit."
Read the paper here: https://jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-024-09543-y
Learn more about DSC: https://dsc.rarediseasesnetwork.org
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal Pediatrics on May 2, 2024, titled "Primary Ciliary Dyskinesia."
Read the paper here: https://publications.aap.org/pediatrics/article-abstract/153/6/e2023063064/197224/Primary-Ciliary-Dyskinesia?redirectedFrom=fulltext?autologincheck=redirected
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on May 25, 2024, titled "International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12753
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Pediatric Neurology on March 22, 2024, titled "De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia."
Read the paper here: https://www.pedneur.com/article/S0887-8994(24)00088-2/abstract
Learn more about BVMC: https://bvmc.rarediseasesnetwork.org
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the CHEST Journal on December 9, 2023, titled "Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia."
Read the paper here: https://journal.chestnet.org/article/S0012-3692(23)05841-5/abstract
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Orphanet Journal of Rare Diseases on February 20, 2024, titled "The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects."
Read the paper here: https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03083-3
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Molecular Genetics and Metabolism on March 18, 2024, titled "Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1096719224002683?via%3Dihub
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Molecular Genetics and Genomic Medicine on April 17, 2024, titled "Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2443
Learn more about UCDC: https://ucdc.rarediseasesnetwork.org
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Current Osteoporosis Reports on April 11, 2024, titled "Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know."
Read the paper here: https://link.springer.com/article/10.1007/s11914-024-00870-6
Learn more about BBDC: https://bbd.rarediseasesnetwork.org
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on April 10, 2024, titled "Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12739
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Neurological Sciences on April 1, 2024, titled "Plasma concentrations of glial fibrillary acidic protein, neurofilament light, and tau in Alexander disease."
Read the paper here: https://link.springer.com/article/10.1007/s10072-024-07495-8
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the journal Frontiers in Immunology on March 8, 2024, titled "An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation."
Read the paper here: https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2024.1360369/full
Learn more about LDN: https://ldn.rarediseasesnetwork.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Neurological Sciences on April 1, 2024, titled "Association of Fibroblast Growth Factor 23 with Blood Pressure in Primary Proteinuric Glomerulopathies."
Read the paper here: https://karger.com/ajn/article-abstract/55/2/187/886423/Association-of-Fibroblast-Growth-Factor-23-with?redirectedFrom=fulltext
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the journal Clinical Immunology on February 15, 2024, titled "Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1521661624000536?via%3Dihub
Learn more about PIDTC: https://pidtc.rarediseasesnetwork.org
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Calcified Tissue Internationalon March 12, 2024, titled "Current and Developing Pharmacologic Agents for Improving Skeletal Health in Adults with Osteogenesis Imperfecta."
Read the paper here: https://link.springer.com/article/10.1007/s00223-024-01188-2
Learn more about BBDC: https://bbd.rarediseasesnetwork.org
New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Quantitative Imaging in Medicine and Surgery on January 23, 2024, titled "Quantification of enlarged deep medullary vein volumes in Sturge-Weber syndrome."
Read the paper here: https://qims.amegroups.org/article/view/121041/html
Learn more about BVMC: https://bvmc.rarediseasesnetwork.org
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Proteomics on March 12, 2024, titled "Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts."
Read the paper here: https://analyticalsciencejournals.onlinelibrary.wiley.com/doi/10.1002/pmic.202400012
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Cell Reports on March 1, 2024, titled "Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models."
Read the paper here: https://www.cell.com/cell-reports/fulltext/S2211-1247(24)00211-0?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2211124724002110%3Fshowall%3Dtrue
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the European Journal of Neurology on February 26, 2024, titled "Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type 1A."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/ene.16199
Learn more about INC: https://inc.rarediseasesnetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in The Journal of Immunology on March 1, 2024, titled "A Noncanonical CD56dimCD16dim/− NK Cell Subset Indicative of Prior Cytotoxic Activity Is Elevated in Patients with Autoantibody-Mediated Neurologic Diseases."
Read the paper here: https://journals.aai.org/jimmunol/article-abstract/212/5/785/266624/A-Noncanonical-CD56dimCD16dim-NK-Cell-Subset?redirectedFrom=fulltext
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology on January 28, 2024, titled "Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium study."
Read the paper here: https://www.jacionline.org/article/S0091-6749(24)00081-2/abstract
Learn more about PIDTC: https://pidtc.rarediseasesnetwork.org
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Genetics in Medicine on December 3, 2023, titled "Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders."
Read the paper here: https://www.gimjournal.org/article/S1098-3600(23)01055-9/fulltext
Learn more about UCDC: https://ucdc.rarediseasesnetwork.org
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Molecular Genetics and Metabolism on December 10, 2023, titled "Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders."
Read the paper here: https://www.sciencedirect.com/science/article/pii/S1096719223007424?via%3Dihub
Learn more about UCDC: https://ucdc.rarediseasesnetwork.org
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the Journal of Clinical Psychology in Medical Settings on January 28, 2024, titled "Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study."
Read the paper here: https://link.springer.com/article/10.1007/s10880-023-09991-z
Learn more about BBDC: https://bbd.rarediseasesnetwork.org
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journal Clinical and Translational Gastroenterology on February 6, 2024, titled "A Multicenter Long-Term Cohort Study of Eosinophilic Esophagitis Variants and Their Progression to EoE Over Time."
Read the paper here: https://journals.lww.com/ctg/abstract/9900/a_multicenter_long_term_cohort_study_of.233.aspx
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
New research from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. This summary is based on a paper published in the Journal of Neurology, Neurosurgery, & Psychiatry on October 12, 2023, titled "Temporal course of cognitive and behavioural changes in motor neuron diseases."
Read the paper here: https://jnnp.bmj.com/content/95/4/316
Learn more about CReATe: https://create.rarediseasesnetwork.org
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Movement Disorders on February 3, 2024, titled "An Exploratory, Randomized, Double-Blind Clinical Trial of Dipraglurant for Blepharospasm."
Read the paper here: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29734
Learn more about DC: https://dc.rarediseasesnetwork.org
New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the Journal of Neurodevelopmental Disorders on January 6, 2024, titled "Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN)."
Read the paper here: https://jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-023-09515-8
Learn more about LDN: https://ldn.rarediseasesnetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Nature Reviews Neurology on January 8, 2024, titled "Myasthenia gravis: the changing treatment landscape in the era of molecular therapies."
Read the paper here: https://www.nature.com/articles/s41582-023-00916-w
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Kidney International in February 2024 titled "Rationale and design of the Nephrotic Syndrome Study Network (NEPTUNE) Match in glomerular diseases: designing the right trial for the right patient, today."
Read the paper here: https://www.kidney-international.org/article/S0085-2538(23)00847-5/fulltext
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Pediatric Nephrology on January 18, 2024, titled "Pediatric contributions and lessons learned from the NEPTUNE cohort study."
Read the paper here: https://link.springer.com/article/10.1007/s00467-023-06256-7
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium. This summary is based on a paper published in the Journal of Inherited Metabolic Diseaseon July 4, 2023, titled "State-of-the-art 2023 on gene therapy for phenylketonuria."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12651
Learn more about PHEFREE: https://phefree.rarediseasesnetwork.org
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the journal Blood on December 14, 2023, titled "Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD."
Read the paper here: https://ashpublications.org/blood/article-abstract/142/24/2105/497415/Genotype-oxidase-status-and-preceding-infection-or?redirectedFrom=fulltext
Learn more about PIDTC: https://pidtc.rarediseasesnetwork.org
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in The Journal of Allergy and Clinical Immunologyon September 1, 2023, titled "Breakthroughs in understanding and treating eosinophilic gastrointestinal diseases presented at the CEGIR/TIGERs Symposium at the 2022 American Academy of Allergy, Asthma & Immunology Meeting."
Read the paper here: https://www.jacionline.org/article/S0091-6749(23)01103-X/fulltext
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Nature Communications on November 30, 2023, titled "Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease."
Read the paper here: https://www.nature.com/articles/s41467-023-43020-9
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journal Clinical Gastroenterology and Hepatology on March 24, 2023, titled "Esophageal Epithelium and Lamina Propria Are Unevenly Involved in Eosinophilic Esophagitis."
Read the paper here: https://www.cghjournal.org/article/S1542-3565(23)00222-7/fulltext
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Dystonia on June 8, 2023, titled "Anatomical categorization of isolated non-focal dystonia: novel and existing patterns using a data-driven approach."
Read the paper here: https://www.frontierspartnerships.org/articles/10.3389/dyst.2023.11305/full
Learn more about DC: https://dc.rarediseasesnetwork.org
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal International Forum of Allergy and Rhinology on November 23, 2023, titled "Histologic characterization of primary ciliary dyskinesia chronic rhinosinusitis."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/alr.23303
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Journal of Clinical Endocrinology and Metabolism on May 23, 2023, titled "Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy."
Read the paper here: https://academic.oup.com/jcem/article/108/11/e1306/7176140?login=false
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Movement Disorders Clinical Practice on June 28, 2023, titled "Assessing the Severity of Cervical Dystonia: Ask the Doctor or Ask the Patient?"
Read the paper here: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.13827
Learn more about DC: https://dc.rarediseasesnetwork.org
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the Journal of Neurology on October 15, 2023, titled "Longitudinal predictors of health-related quality of life in isolated dystonia."
Read the paper here: https://link.springer.com/article/10.1007/s00415-023-12022-4
Learn more about DC: https://dc.rarediseasesnetwork.org
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Pediatric Neurology on July 7, 2023, titled "Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ)."
Read the paper here: https://www.pedneur.com/article/S0887-8994(23)00209-6/fulltext
Learn more about DSC: https://dsc.rarediseasesnetwork.org
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Briefings in Bioinformatics on August 14, 2023, titled "Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis."
Read the paper here: https://academic.oup.com/bib/article/24/5/bbad284/7242261?login=false
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Journal of Medical Genetics on May 16, 2023, titled "Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C."
Read the paper here: https://jmg.bmj.com/content/60/10/1026
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Brain on June 20, 2023, titled "Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1."
Read the paper here: https://academic.oup.com/brain/article/146/10/4025/7202422?login=false
Learn more about INC: https://inc.rarediseasesnetwork.org
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the European Journal of Neurology on September 29, 2023, titled "Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/ene.16063
Learn more about INC: https://inc.rarediseasesnetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on September 19, 2023, titled "Remission of severe myasthenia gravis after autologous stem cell transplantation."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/acn3.51898
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal PLOS One on October 10, 2023, titled "Serum metabolomics of treatment response in myasthenia gravis."
Read the paper here: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0287654
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Sensors on September 7, 2023, titled "Eye Segmentation Method for Telehealth: Application to the Myasthenia Gravis Physical Examination."
Read the paper here: https://www.mdpi.com/1424-8220/23/18/7744
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the Clinical Journal of the American Society of Nephrology on September 21, 2023, titled "The Significance of Hematuria in Podocytopathies."
Read the paper here: https://journals.lww.com/cjasn/abstract/9900/the_significance_of_hematuria_in_podocytopathies.251.aspx
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Molecular Genetics and Metabolism on September 8, 2023, titled "Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1096719223003268?via%3Dihub
Learn more about UCDC: https://ucdc.rarediseasesnetwork.org
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the American Journal of Medical Genetics on June 15, 2023, titled "A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63323
Learn more about BBDC: https://bbd.rarediseasesnetwork.org
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Genes on August 4, 2023, titled "Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG."
Read the paper here: https://www.mdpi.com/2073-4425/14/8/1585
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on August 4, 2023, titled "Beyond genetics: Deciphering the impact of missense variants in CAD deficiency."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12667
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal International Forum of Allergy and Rhinology on August 11, 2023, titled "Primary ciliary dyskinesia: An update on contemporary diagnosis."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/alr.23254
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Neurology on June 28, 2023, titled "Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease."
Read the paper here: https://n.neurology.org/content/101/7/e717
Learn more about INC: https://inc.rarediseasesnetwork.org
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Brain on March 22, 2023, titled "Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history."
Read the paper here: https://academic.oup.com/brain/article-abstract/146/9/3826/7083729?redirectedFrom=fulltext&login=false
Learn more about INC: https://inc.rarediseasesnetwork.org
New research from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. This summary is based on a paper published in the journal
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration on May 15, 2023, titled "The amyotrophic lateral sclerosis-health index (ALS-HI): development and evaluation of a novel outcome measure."
Read the paper here: https://www.tandfonline.com/doi/abs/10.1080/21678421.2023.2204871?journalCode=iafd20
Learn more about CReATe: https://create.rarediseasesnetwork.org
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journal Therapeutic Advances in Rare Disease on August 14, 2023, titled "Enhancing diversity, equity, inclusion, and accessibility in eosinophilic gastrointestinal disease research: the consortium for eosinophilic gastrointestinal disease researchers’ journey."
Read the paper here: https://journals.sagepub.com/doi/10.1177/26330040231180895
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Journal of Child Neurology on July 27, 2023, titled "Exploration of Gross Motor Function in Aicardi-Goutières Syndrome."
Read the paper here: https://journals.sagepub.com/doi/10.1177/08830738231188753
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Nature on July 19, 2023, titled "An atlas of healthy and injured cell states and niches in the human kidney."
Read the paper here: https://www.nature.com/articles/s41586-023-05769-3
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Nature Communications on August 14, 2023, titled "An integrated organoid omics map extends modeling potential of kidney disease."
Read the paper here: https://www.nature.com/articles/s41467-023-39740-7
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Nature Genetics on June 29, 2023, titled "Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells."
Read the paper here: https://www.nature.com/articles/s41588-023-01433-8
Learn more about NAMDC: https://namdc.rarediseasesnetwork.org
New research from the Porphyrias Consortium (PC). This summary is based on a paper published in the journal Hepatology on July 27, 2023, titled "Evidence based consensus guidelines for diagnosis and management of Protoporphyria-Related liver dysfunction in erythropoietic protoporphyria and X-Linked protoporphyria."
Read the paper here: https://journals.lww.com/hep/Citation/9900/Evidence_based_consensus_guidelines_for_diagnosis.518.aspx
Learn more about PC: https://pc.rarediseasesnetwork.org
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the American Journal of Medical Genetics on July 1, 2023, titled "Updated consensus guidelines on the management of Phelan–McDermid syndrome."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63312
Learn more about DSC: https://dsc.rarediseasesnetwork.org
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on May 22, 2023, titled "Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/acn3.51796
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on March 6, 2023, titled "Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12598
Learn more about LDN: https://ldn.rarediseasesnetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal JMIR Neurotechnology on April 19, 2023, titled "A Digital Telehealth System to Compute Myasthenia Gravis Core Examination Metrics: Exploratory Cohort Study."
Read the paper here: https://neuro.jmir.org/2023/1/e43387
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Acta Neuropathologica on June 21, 2023, titled "Individual myasthenia gravis autoantibody clones can efficiently mediate multiple mechanisms of pathology."
Read the paper here: https://link.springer.com/article/10.1007/s00401-023-02603-y
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in The Lancet on June 20, 2023, titled "Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium."
Read the paper here: https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(23)00731-6/fulltext
Learn more about PIDTC: https://pidtc.rarediseasesnetwork.org
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the Journal of Clinical Endocrinology & Metabolism on January 20, 2023, titled "Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta."
Read the paper here: https://academic.oup.com/jcem/advance-article-abstract/doi/10.1210/clinem/dgad035/6993462?redirectedFrom=fulltext&login=false
Learn more about BBDC: https://bbd.rarediseasesnetwork.org
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal Annals of the American Thoracic Society in January 2023 titled "HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians."
Read the paper here: https://www.atsjournals.org/doi/10.1513/AnnalsATS.202203-253RL
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Brain on January 30, 2023, titled "SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia."
Read the paper here: https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awac460/7010590?login=false
Learn more about GLIA-CTN: https://theglia.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Biomolecules on December 31, 2022, titled "Assessment of Fibrinogen-like 2 (FGL2) in Human Chronic Kidney Disease through Transcriptomics Data Analysis."
Read the paper here: https://www.mdpi.com/2218-273X/13/1/89
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Pediatric Neurology on November 25, 2022, titled "Deep Venous Remodeling in Unilateral Sturge-Weber Syndrome: Robust Hemispheric Differences and Clinical Correlates."
Read the paper here: https://www.pedneur.com/article/S0887-8994(22)00243-0/fulltext
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. This summary is based on a paper published in the International Journal of Molecular Sciences on November 3, 2022, titled "Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4."
Read the paper here: https://www.mdpi.com/1422-0067/23/21/13466
Learn more about CReATe: https://www1.rarediseasesnetwork.org/cms/create/
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the Journal of Neurodevelopmental Disorders on January 14, 2023, titled "Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change."
Read the paper here: https://jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-022-09468-4
Learn more about DSC: https://www1.rarediseasesnetwork.org/cms/dsc
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal Annals of the American Thoracic Society in January 2023 titled "Airway Inflammation in Children with Primary Ciliary Dyskinesia."
Read the paper here: https://www.atsjournals.org/doi/10.1513/AnnalsATS.202204-314OC
Learn more about GDMCC: https://www1.rarediseasesnetwork.org/cms/gdmcc
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the New England Journal of Medicine on December 22, 2022, titled "Lentiviral Gene Therapy for Artemis-Deficient SCID."
Read the paper here: https://www.nejm.org/doi/10.1056/NEJMoa2206575
Learn more about PIDTC: https://pidtc.rarediseasesnetwork.org
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the American Journal of Gastroenterology on December 1, 2022, titled "Provider Beliefs, Practices, and Perceived Barriers to Dietary Elimination Therapy in Eosinophilic Esophagitis."
Read the paper here: https://journals.lww.com/ajg/Abstract/2022/12000/Provider_Beliefs,_Practices,_and_Perceived.31.aspx
Learn more about CEGIR: https://www1.rarediseasesnetwork.org/cms/cegir
New research from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. This summary is based on a paper published in the journal Brain on October 31, 2022, titled "Neurofilament light chain in drug development for amyotrophic lateral sclerosis: a critical appraisal."
Read the paper here: https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awac394/6780887?login=false
Learn more about CReATe: https://www1.rarediseasesnetwork.org/cms/create/
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the Journal of the American Society of Nephrology in December 2022 titled "Activation of Stimulator of IFN Genes (STING) Causes Proteinuria and Contributes to Glomerular Diseases."
Read the paper here: https://journals.lww.com/jasn/Abstract/2022/12000/Activation_of_Stimulator_of_IFN_Genes__STING_.7.aspx
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology on November 28, 2022, titled "The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions."
Read the paper here: https://www.jacionline.org/article/S0091-6749(22)01479-8/fulltext
Learn more about PIDTC: https://pidtc.rarediseasesnetwork.org
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology on November 28, 2022, titled "The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions."
Read the paper here: https://www.jacionline.org/article/S0091-6749(22)01478-6/fulltext
Learn more about PIDTC: https://pidtc.rarediseasesnetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Muscle & Nerve on November 2, 2022, titled "The best and worst of times in therapy development for myasthenia gravis."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/mus.27742
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the American Journal of Medical Genetics on October 22, 2022, titled "A multicenter study to evaluate pain characteristics in osteogenesis imperfecta."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63009
Learn more about BBDC: https://www1.rarediseasesnetwork.org/cms/bbd
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Medical Genetics on November 10, 2022, titled "Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement."
Read the paper here: https://jmg.bmj.com/content/early/2022/11/10/jmg-2022-108821
Learn more about FCDGC: https://www.rarediseasesnetwork.org/fcdgc
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Acta Neuropathologica Communications on October 28, 2022, titled "Reemergence of pathogenic, autoantibody-producing B cell clones in myasthenia gravis following B cell depletion therapy."
Read the paper here: https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-022-01454-0
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Molecular Genetics and Metabolism on July 6, 2022, titled "Mitochondrial DNA maintenance defects: potential therapeutic strategies."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1096719222003638?via%3Dihub
Learn more about NAMDC: https://www1.rarediseasesnetwork.org/cms/namdc
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal Annals of the American Thoracic Society in November 2022 titled "Association of Neonatal Hospital Length of Stay with Lung Function in Primary Ciliary Dyskinesia."
Read the paper here: https://www.atsjournals.org/doi/abs/10.1513/AnnalsATS.202202-116OC?role=tab
Learn more about GDMCC: https://www1.rarediseasesnetwork.org/cms/gdmcc
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Proceedings of the National Academy of Sciences of the United States of America on October 25, 2022, titled "ADAR regulates APOL1 via A-to-I RNA editing by inhibition of MDA5 activation in a paradoxical biological circuit."
Read the paper here: https://www.pnas.org/doi/10.1073/pnas.2210150119
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Genes on September 21, 2022, titled "Review of Applications of Near-Infrared Spectroscopy in Two Rare Disorders with Executive and Neurological Dysfunction: UCD and PKU."
Read the paper here: https://www.mdpi.com/2073-4425/13/10/1690
Learn more about UCDC: https://www1.rarediseasesnetwork.org/cms/ucdc
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Human Molecular Genetics on October 15, 2022, titled "A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome."
Read the paper here: https://academic.oup.com/hmg/article/31/20/3393/6589680
Learn more about FCDGC: https://www.rarediseasesnetwork.org/fcdgc
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on September 14, 2022, titled "N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12557
Learn more about FCDGC: https://www.rarediseasesnetwork.org/fcdgc
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on October 10, 2022, titled "DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12565
Learn more about FCDGC: https://www.rarediseasesnetwork.org/fcdgc
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the Journal of the Peripheral Nervous System on September 30, 2022, titled "Severe distinct dysautonomia in RFC1-related disease associated with Parkinsonism."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/jns.12515
Learn more about INC: https://www1.rarediseasesnetwork.org/cms/inc
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the Orphanet Journal of Rare Diseases on October 14, 2022, titled "HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling."
Read the paper here: https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02541-0
Learn more about INC: https://www1.rarediseasesnetwork.org/cms/inc
New research from the Porphyrias Consortium (PC). This summary is based on a paper published in the Journal of the American Academy of Dermatology on August 27, 2022, titled "Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria."
Read the paper here: https://www.jaad.org/article/S0190-9622(22)02611-1/pdf
Learn more about PC: https://www1.rarediseasesnetwork.org/cms/porphyrias
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on October 10, 2022, titled "Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/acn3.51668
Learn more about UCDC: https://www1.rarediseasesnetwork.org/cms/ucdc
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Cell Biology on September 2, 2022, titled "Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions."
Read the paper here: https://rupress.org/jcb/article-abstract/221/10/e202205038/213437/Origin-of-cytoplasmic-GDP-fucose-determines-its?redirectedFrom=fulltext
Learn more about FCDGC: https://www.rarediseasesnetwork.org/fcdgc
New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the International Journal of Molecular Sciences on August 16, 2022, titled "Biological Variation in Peripheral Inflammation and Oxidative Stress Biomarkers in Individuals with Gaucher Disease."
Read the paper here: https://www.mdpi.com/1422-0067/23/16/9189
Learn more about LDN: https://lysosomaldiseasenetwork.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Nephron on September 16, 2022, titled "Targeting Endoplasmic Reticulum for Novel Therapeutics and Monitoring in Acute Kidney Injury."
Read the paper here: https://www.karger.com/Article/FullText/526050
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Pediatric Nephrology on August 9, 2022, titled "T-cell receptor diversity in minimal change disease in the NEPTUNE study."
Read the paper here: https://link.springer.com/article/10.1007/s00467-022-05696-x
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the Journal of Clinical Immunology on April 21, 2022, titled "Granulocyte Transfusions in Patients with Chronic Granulomatous Disease Undergoing Hematopoietic Cell Transplantation or Gene Therapy."
Read the paper here: https://link.springer.com/article/10.1007/s10875-022-01261-1
Learn more about PIDTC: https://www1.rarediseasesnetwork.org/cms/pidtc
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the Journal of the Neurological Sciences on August 15, 2022, titled "Diagnosis and classification of blepharospasm: Recommendations based on empirical evidence."
Read the paper here: https://www.jns-journal.com/article/S0022-510X(22)00181-2/fulltext
Learn more about DC: https://www1.rarediseasesnetwork.org/cms/dystonia/
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the European Journal of Allergy and Clinical Immunology on February 17, 2022, titled "Characterization of eosinophilic esophagitis variants by clinical, histological, and molecular analyses: A cross-sectional multi-center study."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/all.15233
Learn more about CEGIR: https://www1.rarediseasesnetwork.org/cms/cegir
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology on June 1, 2022, titled "Risk factors for SARS-CoV-2 infection and transmission in households with children with asthma and allergy: A prospective surveillance study."
Read the paper here: https://www.jacionline.org/article/S0091-6749(22)00752-7/fulltext
Learn more about CEGIR: https://www1.rarediseasesnetwork.org/cms/cegir
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology on May 29, 2022, titled "Eosinophilic gastrointestinal diseases make a name for themselves: A new consensus statement with updated nomenclature."
Read the paper here: https://www.jacionline.org/article/S0091-6749(22)00709-6/fulltext
Learn more about CEGIR: https://www1.rarediseasesnetwork.org/cms/cegir
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Current Opinion in Neurology on July 5, 2022, titled "The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes."
Read the paper here: https://journals.lww.com/co-neurology/Abstract/2022/08000/The_apparent_paradox_of_phenotypic_diversity_and.10.aspx
Learn more about DC: https://www1.rarediseasesnetwork.org/cms/dystonia/
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Current Opinion in Neurology on August 5, 2022, titled "Novel pathophysiological insights in autoimmune myasthenia gravis."
Read the paper here: https://journals.lww.com/co-neurology/Citation/2022/10000/Novel_pathophysiological_insights_in_autoimmune.7.aspx
Learn more about MGNet: https://www.rarediseasesnetwork.org/mgnet
New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the Journal of Chemical Information and Modeling on July 7, 2022, titled "Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function."
Read the paper here: https://pubs.acs.org/doi/10.1021/acs.jcim.2c00630
Learn more about NAMDC: https://www1.rarediseasesnetwork.org/cms/namdc
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the journal Blood Advances on June 28, 2022, titled "HSCT using carrier donors for CD40L deficiency results in excellent immune function and higher CD40L expression in cTfh."
Read the paper here: https://ashpublications.org/bloodadvances/article/6/12/3751/485000/HSCT-using-carrier-donors-for-CD40L-deficiency
Learn more about PIDTC: https://www1.rarediseasesnetwork.org/cms/pidtc
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journal Gastroenterology on May 20, 2022, titled "A Clinical Severity Index for Eosinophilic Esophagitis: Development, Consensus, and Future Directions."
Read the paper here: https://www.gastrojournal.org/article/S0016-5085(22)00287-6/fulltext?referrer=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F
Learn more about CEGIR: https://www1.rarediseasesnetwork.org/cms/cegir/
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on June 18, 2022, titled "ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12527
Learn more about FCDGC: https://www.rarediseasesnetwork.org/fcdgc
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Molecular Genetics and Metabolism on June 16, 2022, titled "Hematologic abnormalities in Aicardi Goutières Syndrome."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1096719222003390?via%3Dihub
Learn more about GLIA-CTN: https://theglia.org
New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the journal Kidney International on April 25, 2022, titled "A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease."
Read the paper here: https://www.kidney-international.org/article/S0085-2538(22)00341-6/fulltext
Learn more about LDN: https://lysosomaldiseasenetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Neuroimmunology & Neuroinflammation on April 26, 2022, titled "Heterogeneity of Acetylcholine Receptor Autoantibody–Mediated Complement Activity in Patients With Myasthenia Gravis."
Read the paper here: https://nn.neurology.org/content/9/4/e1169
Learn more about MGNet: https://www.rarediseasesnetwork.org/mgnet
New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Molecular Genetics and Metabolism on May 13, 2022, titled "Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1096719222003201?via%3Dihub
Learn more about NAMDC: https://www1.rarediseasesnetwork.org/cms/namdc
New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the Journal of Clinical Investigation on May 26, 2022, titled "RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis."
Read the paper here: https://www.jci.org/articles/view/145660
Learn more about NAMDC: https://www1.rarediseasesnetwork.org/cms/namdc
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the Journal of the American Society of Nephrology on June 30, 2022, titled "Kidney Biopsy Features Most Predictive of Clinical Outcomes in the Spectrum of Minimal Change Disease and Focal Segmental Glomerulosclerosis."
Read the paper here: https://jasn.asnjournals.org/content/33/7/1411
Learn more about NEPTUNE: https://www.neptune-study.org