Rare Disease Report: Recent Episodes
Rare Disease Report
Hosted by HCPLive, the monthly series tackles the intricate details of the 6,000-plus known rare diseases, featuring an expert guest, one disease at a time.
The FDA is expected to announce the final decision for the dual therapy AT-GAA, which uses miglustat in combination with cipaglucosidase alfa for treating Pompe disease, an inherited and often times fatal disorder. Expert Barry Byrne discusses the characteristics of the condition and what this FDA decision will mean for treatment.
In the wake of Newborn Screening Awareness Month, this episode dives into a novel diagnostic precision medicine guidance tool called BeginNGS. Catherine Nester, RN, and Dr. Stephen Kingsmore, discuss the pivotal role of newborn screening in diagnosing rare diseases. As representatives from collaborating partners Inozyme Pharma and Rady Children's Institute that created this tool, they explain the impact that BeginNGS can have on the future of rare disease medicine.
The second episode of the 2-part Rare Disease Report shifts to a clinical perspective with the expertise of Dr. Pestana, a pediatric epileptologist at the Epilepsy Center, Cleveland Clinic Neurological Institute who treats patients with CDKL5 deficiency disorder (CDD).
In the first episode of a 2-part Rare Disease Report, Whitney Mitchell, mother and caregiver to her 6 year old daughter Havilah, shared her experience leading up to, and now living with, Havilah’s CDKL5 deficiency disorder (CDD) diagnosis.
Mikkael Sekeres, MD, is no stranger to rare disease. In his own words, there are rare diseases and then there are very rare diseases. Sickle cell is a rare condition with an incidence rate of just over 100 per 100,000 people. Sekeres focuses much of his treatment on patients with bone marrow disorders like myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). These conditions have an incidence rate of approximately 5 per 100,000. In this episode he shares insight on treatment practices, clinical trial procedures and hurdles, as well as the importance of finding reliable sources for information.
In this hallmark episode, we discuss a condition that has only been documented in 70 cases worldwide. Dr. Amelle Shilligton is a clinical geneticist at Cincinnati Children's Hospital Medical Center. In this conversation, Ashley and Jacob Wiley share the story of how they rushed their 15 month old daughter Aislynn to that hospital, and Dr. Shillington explains how she eventually solved the mystery of Aislynn's diagnosis of TANGO2-related metabolic encephalopathy and arrhythmias. The rare genetic disorder is caused by variants in the TANGO2 gene and those with it can experience episodes of acute illness called metabolic crises.
For Autoimmune Disease Awareness Month, Joe Ahearn, MD, discusses relapsing polychondritis from a clinical perspective with Michael Linn, an advocate and the Vice Chair of the Relapsing Polychondritis Foundation. The team shares an exciting announcement about the partnership they've formed.
Our first episode back features Karen Kozarsky, PhD, an expert on gene therapy and adrenomyeloneuropathy (AMN). She has an in-depth discussion with our new host Giuliana Grossi about what the future might hold for AMN treatment.
Sharon Hrynkow, PhD, joins the Rare Disease Report to discuss the ultra rare and heterogenous lysosomal storage disorder.
Florian Thomas, MD, and Adrian Hepner, MD, cover the basics of the degenerative nerve disorder.
Stephen Russell, MD, talks about promising new data that has the potential to provide a breakthrough for treating the most common mutation of the rare genetic eye disease.
Ennis James, MD, discusses the challenges and lingering questions associated with the treatment of sarcoidosis
Eric Wallace, MD, discusses Anderson-Fabry disease and the difficulties associated with screening, testing, and treatment.
Kim Smith-Whitley, MD, discusses the history, presentations, and research status of sickle cell disease.