CHOP Genetics Expert Lauded for 22q Research
Published on in CHOP News
August 8, 2012 — Donna McDonald-McGinn, MS, 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, FL. 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 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.
About chromosome 22q.11.2 deletion
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.
CHOP has long history of studying and treating 22q.11.2 deletion syndrome
The Children’s Hospital of Philadelphia has a long history of studying chromosome 22q11.2 deletion syndrome. Elaine Zackai, MD, the medical director of the “22q and You” Center, recalls that she saw a child with DiGeorge syndrome in 1982, and realizing that the patient had more than the usual findings, suggested doing a chromosomal analysis. Her colleague, Beverly Emanuel, PhD, now the Hospital’s chief of Human Genetics, discovered the actual deletion in chromosome 22, and ultimately developed a diagnostic test.
McDonald-McGinn and launch of CHOP's 22q and You Center
Shortly after Children’s Hospital developed this laboratory test in 1992, McDonald-McGinn was instrumental in launching the Hospital’s “22q and You Center,” which draws patients from throughout the world. She has published more than 80 articles on this deletion syndrome, has served as a tireless advocate for children and families, and has spent countless hours working on support and educational events related to this condition.
Zackai added that McDonald-McGinn “has unique qualities: being very smart and savvy, having the ability to bring the right people together, and being the glue that holds them together … She is innovative, ambitious, never stops until the job is done, and then goes the extra mile looking toward the future.”
John Ascenzi, Children's Hospital of Philadelphia, 267-426-6055 or firstname.lastname@example.org