Alpha-1 antitrypsin (AAT) deficiency, a genetic disorder, is a common factor in lung diseases like COPD and emphysema. Dr. Mark Brantly’s research examines how AAT interacts with environmental factors that trigger the disorders. His findings are important because many physicians remain unaware of the genetic background of the diseases they treat. Much of Brantly’s work has been funded by University of Florida royalties derived from Gatorade, the brainchild of Robert Cade.

TRANSCRIPT:

Intro: 0:01

Inventors and their inventions. Welcome to Radio Cade a podcast from the Cade Museum for Creativity and Invention in Gainesville, Florida, the museum is named after James Robert Cade, who invented Gatorade in 1965. My name is Richard Miles. We'll introduce you to inventors and the things that motivate them, we'll learn about their personal stories, how their inventions work, and how their ideas get from the laboratory to the marketplace.

Richard Miles: 0:38

Orphan diseases. What are they, why should we care? And who is out there trying to cure them? I'm your host, Richard Miles and today we'll be talking about one such disease with Dr. Mark Brantly, a professor of medicine at the University of Florida College of Medicine. Welcome to Radio Cade, Dr. Brantly.

Dr. Mark Brantly: 0:54

Thank you, Richard.

Richard Miles: 0:55

Okay if I call you Mark?

Dr. Mark Brantly: 0:56

Absolutely.

Richard Miles: 0:57

Good, okay. So your research focuses on a condition called Alpha One Antitrypsin Deficiency. Did I say that correctly?

Dr. Mark Brantly: 1:05

Absolutely.

Richard Miles: 1:05

Okay, good. So what does that mean exactly? Who gets AAT and what is actually going on inside the body?

Dr. Mark Brantly: 1:12

Well, so Alpha Antitrypsin Deficiency is a somewhat rare genetic disorder that is associated with a increased risk of developing chronic obstructive pulmonary disease or pretty bad lung disease, and also liver disease, particularly in children and as well adults, Alpha Antitrypsin Deficiency is relatively common in the Caucasian population. And in about one in hundred individuals have at least one abnormal gene, people that have two copies is about one in 3 000 people. So in the United States, there's up to one and a hundred thousand individuals that have Alpha Antitrypsin Deficiency.

Richard Miles: 1:48

So this is actually much more common than I thought. I thought this was an extremely rare condition, but it sounds like this is much more common.

Dr. Mark Brantly: 1:55

That's absolutely correct. And indeed it is the most common genetic cause of chronic obstructive pulmonary disease or emphysema in the United States.

Richard Miles: 2:03

So if I understand correctly though, by itself, is it going to necessarily cause lung cancer having the deficiency will everyone with AAT eventually get lung cancer or are there other factors involved?

Dr. Mark Brantly: 2:14

Right. So they don't get lung cancer. They actually get destructive lung disease or obstructive lung disease, but you're absolutely correct. Not everybody develops lung disease from alpha antitrypsin deficiency. And indeed there's a very strong environme