Medical Professionals Invited to Participate in Rare Disease Genomics Symposium held at Children's of Alabama

BIRMINGHAM – Children’s of Alabama, the University of Alabama at Birmingham (UAB) Department of Genetics and the UAB-HudsonAlpha Center for Genomic Medicine, will host the 5th annual Rare Disease Symposium on Friday, March 2, at 8 a.m. in the Bradley Lecture Center (4th Floor, Children’s Harbor Building, 1600 6th Ave. S., Birmingham, 35233). The day-long conference is open to the public and will commemorate Rare Disease Day, which is an international event created to raise awareness around uncommon conditions affecting children and adults worldwide.

Registration is now open and the cost to attend is $35. Complimentary continental breakfast, lunch and parking are included with registration. Online registration is available at www.childrensal.org/genetics. 

“The Rare Disease Genomics Symposium this year will focus on treatment plans, transitioning from pediatric to adult care, and coordinating care for patients with rare diseases and their families.  We will speak on the guidelines for improving outcomes for patients with rare diseases.” said Dr. Bruce Korf, M.D., Ph.D., Chief Genomics Officer of UAB Medicine.  “It is specifically targeted towards healthcare professionals who are not experts in genetics and genomics.  We will also have a panel of parents who will share insight on taking care of a child with a rare disease.  This year, we also have the privilege of hosting an art exhibit ‘Beyond the Diagnosis,’ which will be on display at Children’s of Alabama.”

The keynote speaker is Hudson Freeze, Ph.D., an internationally recognized expert on human genetic disorders. For 35 years, Dr. Freeze has worked on rare diseases, specializing in the discovery of Congenital Disorders of Glycosylation (CDG) and their treatments. He is the Professor of Glycobiology as well as the Director of the Human Genetics Program at the Sanford Burnham Prebys (SBP) Medical Research Institute. His interests are in defining new types of CDG, and in NGLY1, the first Congenital Disorder of Deglycosylation. He is the President of Science Policy at FASEB, a 125,000 member alliance of biomedical researchers. Dr. Freeze was awarded the 2013 Golden Goose Award for isolating the first extreme thermophile.

Children’s of Alabama designates this live activity for a maximum of 5.75 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Children’s of Alabama is accredited by the Medical Association of the State of Alabama to provide continuing medical education for physicians.

In addition, the Rare Disease United Foundation will present the Beyond the Diagnosis Art Exhibit at Children’s of Alabama. The art exhibit focuses on the rare disease patient, encouraging the medical community to look “beyond the diagnosis” to the patient. Selected pieces from the collection will be on display in the hospital’s Russell and McWane lobbies beginning Feb. 16 through March 16.

For more information, please contact Shaila Handattu at shandattu@uabmc.edu. 

Since 1911, Children’s of Alabama has provided specialized medical care for ill and injured children, offering inpatient and outpatient services throughout central Alabama. Ranked among the best pediatric medical centers in the nation by U.S. News & World Report, Children’s provided care for youngsters from every county in Alabama, 45 other states and six foreign countries last year, representing more than 677,000 outpatient visits and more than 15,000 inpatient admissions. With more than 2 million square feet, Children’s is the third largest pediatric medical facility in the U.S. More information is available at childrensal.org.