The University of Alabama at Birmingham will present the sixth annual Rare Disease Genomics Symposium on March 1-2. The event is held in conjunction with World Rare Disease Day each year and is hosted by the UAB School of Medicine, Children’s of Alabama, Alabama Rare, the UAB Center for Clinical and Translation Science, Rarediseaseday.org, the UAB Hugh Kaul Precision Medicine Institute, and the UAB-HudsonAlpha Center for Genomic Medicine.
The two-day symposium will focus on population genomics for medical professionals Friday and how to demystify rare diseases for affected individuals and families Saturday. Sessions on Friday include the use of genome sequencing in individuals affected with rare diseases, how to use genomic sequencing as a diagnostic tool for pediatric congenital disease, and the potential and challenges of genomic diagnostics.
On Saturday, experts will discuss what is involved in pursuing approved and trial treatments and how to help caregivers and patients understand how to live with a rare disorder and talk about it with family, friends and loved ones.
“UAB has placed a major emphasis on precision medicine in order to make the most effective and cutting-edge medical management available to our patients and providers. We recognize the importance of helping providers understand the role played by genetics and genomics in disease prevention, diagnosis and treatment,” said Bruce R. Korf, M.D., Ph.D., chief genomics officer at UAB Medicine. “This symposium offers the opportunity to share genomic approaches to medicine and the power of its benefits with health care providers and professionals.”
David Goldstein, Ph.D., the director of the Institute for Genomic Medicine at Columbia University, will be the keynote speaker and will speak Friday.
The symposium is open to the public and will be held at the Bradley Lecture Center at Children’s of Alabama. The cost to attend Friday’s session is $35. Saturday’s event is free. The symposium will be held from 8 a.m.-3:45 p.m. Friday and 8 a.m.-1 p.m. Saturday. Child care will be provided Saturday. To register, visit the Rare Disease Genomics Symposium website.