Alpha-1 Antitrypsin Deficiency

DNA Strands on blue backgroundUniversity of Florida Health researchers explore the relationship between AATD and how it causes disease

Approximately one in 2,500 individuals carry a genetic mutation known as Alpha-1 Antitrypsin Deficiency, or AATD. Categorized as a conformational disease, like sickle cell anemia and cystic fibrosis, AATD occurs when a protein is misfolded, and oftentimes contributes to liver and lung disease.

At University of Florida Health, our teams of experts are exploring the relationship between AATD and how it causes disease.

Mark Brantly, MD, a physician-scientist at UF Health, the vice chair of research for the UF College of Medicine’s Department of Medicine, and an Alpha-1 Foundation research professor, supervises the UF College of Medicine’s AATD research lab, one of the largest clinical sites in the world for treating and researching AATD.

As a former researcher at the National Institute of Health, Brantly was part of the research team that developed the first specific therapy for AATD which focused on replacing the missing protein. At UF Health, Brantly and his team will be participating in a study that focuses on refolding proteins through a pill-based therapy.

“We feel privileged to take care of patients,” Brantly said. “They [patients] say, “doctor, how can I help?” I always receive emails asking if there’s another research protocol our patients can be involved in. Oftentimes, these are genetic diseases where the community with this disease wants to find a cure so they participate.”

Ali Ataya, MD, an assistant professor and physician-scientist at UF Health, works alongside Brantly to discover new therapies for patients with AATD. Together, Ataya and Brantly take care of over 150 AATD individuals.

In addition, both physicians and a nurse practitioner also operate the only rare lung disease clinic in Florida for conditions such as pulmonary alveolar proteinosis, pulmonary Langerhans cell histiocytosis, and lymphangioleiomyomatosis, also known as LAM.

“We have a whole team who work together to take care of people at all stages of their lung disease,” Brantly said. “For patients early on in their diagnosis we use novel therapies. However, we still have a lot of lung diseases that we don’t have therapies for, so as we go forward we continue to define them.”

One way of doing this includes access to DNA sequencing to better understand the genetic makeup of a rare diseases.

As part of an academic health center, UF’s division of pulmonary medicine has more than 40 active clinical trials. Each research breakthrough give Brantly and Ataya the opportunity to design specific treatment plans for their patients.