Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the "22q and You" Center at The Children's Hospital of Philadelphia, received the Angelo DiGeorge Medal of Honor on July 6 at the 8th Biennial International 22q11.2 DS Conference in Lake Buena Vista, Florida. Ms. McDonald-McGinn, who began her career at CHOP in 1985, is the second person to receive this highly esteemed honor.
The Angelo DiGeorge Medal recognizes outstanding contributions to understanding and/or treatment of chromosome 22q.11.2 deletion syndrome, a relatively common multisystem genetic disorder. The International 22q11.2 Deletion Syndrome Consortium established the award in 2010 to commemorate the life and work of the late Dr. DiGeorge, a Philadelphia pediatrician at St. Christopher's Hospital for Children who described aspects of the syndrome in the medical literature nearly 50 years ago.
In presenting this award to Ms. McDonald-McGinn, Dr. Peter Scambler of Great Ormond Street Hospital for Children in London praised her "singular breadth of achievement and dedication." He particularly singled out her work in recently co-authoring an important scientific article that presents best practice recommendations for patients with this syndrome.
Chromosome 22q.11.2 deletion syndrome is a congenital disorder that occurs when a portion of the DNA on chromosome 22 is missing. It occurs in about 1 into 2,000 to 1 in 4,000 births, making it nearly as common as Down syndrome. The loss of genetic material has multiple effects, which may include abnormalities in the immune system, the heart, the endocrine system, facial features and cognitive abilities.
Over the years, researchers have found that deletions on this section of chromosome 22 are an underlying cause of various clinical diagnoses, known by such names as DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome, among others.