World Rare Disease Day is observed annually on the last day of February. 2014 will mark the sixth time the event has been held in the United States, where a rare disease is defined as affecting fewer than 200,000 people. In the United States, there are nearly 7,000 rare diseases that affect nearly 30 million Americans. Two-thirds of those affected are children. The goal of Rare Disease Day is to raise awareness of the challenges faced by those living with rare diseases.
The symposium, presented by the UAB Department of Genetics, will run from 8 a.m. to 3 p.m. at Children’s Harbor, 1600 Sixth Ave. South, Room 200. The cost is $15, which includes a light breakfast, lunch and continuing medical education credits. Register online.
The symposium, which will focus on genome sequencing in clinical diagnosis, will feature breakout sessions in two tracks — one for lay members of the community and one for medical professionals. The community track includes an advocacy panel discussion and presentations from Bruce Korf, M.D., Ph.D., professor and chair of the UAB Department of Genetics, Maria Descartes, M.D., professor of genetics, and Emily Giles Wakefield, a UAB generic counseling student.
Korf and Descartes will also address the professional track, along with Greg Barsh, M.D., Ph.D., with HudsonAlpha Institute for Biotechnology in Huntsville; Leslie Biesecker, M.D., Ph.D., molecular geneticist with the National Human Genome Research Institute, National Institutes of Health; Wayne Grody, M.D., Ph.D., director of the Molecular Diagnostic Laboratories and the Clinical Genomics Center within the UCLA Medical Center; and Meagan Cochran, M.S., CGC, a clinical genetic counselor at UAB.