Study Shows Next-gen Innovation And Sequencing Are Centre Of 2023 Rare Disease Genomics Symposium

The University of Alabama at Birmingham will present the 10th annual Rare Disease Genomics Symposium on Friday, March 10, in person at the Bradley Lecture Center and 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, the Alabama Genomic Health Initiative, and the UAB Center for Clinical and Translational Science. This year’s event topics will include next generation technology, long-read genome sequencing, therapeutic sequencing, patient empowerment and health equity.

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.

Participants will hear from keynote speaker Tania Simoncelli, vice president of Science in Society, as well as presentations from experts from the UAB Marnix E. Heersink School of Medicine and School of Public Health. Additional presenters include Praduman Jain, chief executive officer of Vibrent Health; Ryan Taft, Ph.D., vice president of Scientific Research at Illumina Inc.; Gregory Cooper, Ph.D., investigator at HudsonAlpha; and Edward Neilan, M.D., Ph.D., chief medical and scientific officer at the National Organization for Rare Disorders.