UAB and Children’s of Alabama hosted the 4th annual Rare Disease Genomics Symposium on Friday, March 3, 2017. It was a huge success with our most attendees yet – over 100! The symposium focused on integrating genetics and genomics in day to day medical practice. We included sessions to discuss indications for referrals, diagnostic approaches, outcomes, and follow-up. The keynote address, “Genotype Does Not Always Explain Phenotype for Skeletal Disorders,” was given by Debbie Krakow, MD, David Geffen School of Medicine at UCLA. The patient/parent panel was very well-received. The passionate and inspirational speakers were Morgan Cheek, Swapna Kakani, and newly named director of UAB Hugh Kaul Personalized Medicine Institute Matt Might. Attendees walked away with awareness, resources, and new knowledge.

In addition to the symposium and in recognition of Rare Disease Day and Rare Disease Week, Children’s hosted an art exhibit the Thursday night before on March 2 in the Bradley Lecture Center. The Art Exhibit featured traveling pieces of art, each focusing on a rare disease patient. The purpose of the exhibit, presented by the Rare Disease United Foundation, is to encourage a look “beyond the diagnosis” to the patient. The art exhibit was displayed throughout Children’s of Alabama from February 20 through March 17, 2017.

Click here to view photos from the event.