The third annual Rare Disease Genomics Symposium will be held on Friday, Feb. 26, 2016 from 8 a.m. - 3:30 p.m. It is located in the Bradley Lecture Center on the 4th floor of the Children's Harbor Building located at Children's of Alabama. The cost to attend is $15. To register, visit ChildrensAL.org/genetics. Please contact Shaila Handattu at hande@uab.edu with any questions. To view the informational flyer, click here.
undiagnosed diseases 2Stephanie and Christopher Smith have been on a long, difficult and often frustrating journey to find answers for the mysterious health issues of their children. It started 24 years ago when their third child, Gage, was born. Gage, his younger brother Aiden and then sister Mandalynn, now 13, all developed mysterious symptoms that mystified doctors. All had severe inflammation of their joints, and delayed intellectual development. But no one knew why.

“We went to numerous physicians in Florida, South Carolina, Washington, D.C., and never got answers,” said Stephanie Smith. “They wrote “unknown bone disease” in the charts. We knew there was something dreadfully wrong with three of our five children, and no one could tell us what it was.”

The University of Alabama at Birmingham’s Undiagnosed Diseases Program will expand its services with a new genomics clinic located at Children’s of Alabama. The program, powered by UAB, Children’s of Alabama and the HudsonAlpha Institute for Biotechnology, uses sophisticated DNA sequencing and a multidisciplinary medical team to search for a diagnosis for patients with rare or unusual conditions that have defied diagnosis for years. The program was launched in October 2013.

Some of these conditions may be so rare that only a handful of people in the world have them. Others may be more common, but have symptoms that present in an unusual way, making diagnosis difficult. It is possible the UAB Medicine program will discover genetic conditions that have never been described.

mix double helix fThe UAB-HudsonAlpha Center for Genomic Medicine has bestowed its first research grants as part of the collaboration between the University of Alabama at Birmingham and HudsonAlpha Institute for Biotechnology. The three pilot grants, each of $100,000 for up to two years, have been given to collaborative teams of one researcher from UAB and one from HudsonAlpha to pursue research projects in cancer and cardiac disease.

Dr. Korf presented the State of the Department address on September 18, 2015 . Listen to the recording below.