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Telehealth and therapeutic advances are focus of 2022 Rare Disease Genomics Symposium

  • February 18, 2022
The ninth annual Rare Disease Genomics Symposium will take place virtually March 4 from 12-4:30 p.m.

Rare Disease StreamThe University of Alabama at Birmingham will present the ninth annual Rare Disease Genomics Symposium on March 4 virtually. The symposium is held every year in conjunction with World Rare Disease Day and is hosted by UAB, Children’s of Alabama, Alabama Rare and the Alabama Genomic Health Initiative, and the UAB Center for Clinical and Translational Science. This year’s event will focus on science- and research-related telehealth and therapeutic advances. Participants will hear from experts in the fields of genetics, telemedicine, precision medicine and more.

According to the National Institutes of Health, any disease that affects fewer than 200,000 people in the United States is considered rare. There are 7,000 rare diseases, and 25 million to 30 million Americans are estimated to live with a rare disease. People living with rare diseases frequently face challenges finding diagnosis and quality clinical care. Additionally, more than 90 percent of rare diseases lack a treatment approved by the Food and Drug Administration. 

In 2021, UAB was recognized as a Center of Excellence in Rett Syndrome as well as a National Organization of Rare Disorders Center of Excellence alongside Children’s. The designations recognize the dedication of UAB and Children’s to provide cutting-edge care and research for rare diseases in the Southeast.

The coronavirus pandemic brought new challenges to UAB genomic providers and researchers, such as providing quality rare disease care through telemedicine.

“The COVID-19 pandemic brought us one step closer to allowing for patients with rare diseases to access national experts in their specific diseases,” said Eric Wallace, M.D., UAB’s medical director of Telehealth. “Challenges still remain, including the lack of universal permanent insurance coverage of telehealth and medical licensure requirements, which reside at the state level. However, advances in the adoption of technology-based solutions to improve care will continue to re-shape health care, changing the paradigm for patients with rare diseases.”

Participants will hear more from Wallace on the new age of telemedicine, along with presentations and panels from experts from the UAB Marnix E. Heersink School of Medicine and Hugh Kaul Precision Medicine Institute. Natasha Shur, M.D., a geneticist with Children’s National Health System in Washington, D.C., and Frank Bennett, Ph.D., executive vice president and chief scientific officer at Ionis Pharmaceuticals, will be the keynote speakers.

The virtual event is free and will take place from 12-4:30 p.m. To register, visit the Rare Disease Genomics Symposium website.