DiGeorge Medal Honors Genetics Expert for Longstanding Work on Chromosome Deletion Syndrome

Posted: August 3, 2012 at 2:13 am

--Genetics Expert Is Program Director of 22q and You Center at The Childrens Hospital of Philadelphia--

Newswise Philadelphia, Aug. 2, 2012 --Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the 22q and You Center at The Childrens 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. Christophers 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.

The Childrens Hospital of Philadelphia has a long history of studying chromosome 22q11.2 deletion syndrome. Elaine Zackai, M.D., 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, Ph.D., now the Hospitals chief of Human Genetics, discovered the actual deletion in chromosome 22, and ultimately developed a diagnostic test.

Shortly after Childrens Hospital developed this laboratory test in 1992, Ms. McDonald-McGinn was instrumental in launching the Hospitals 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.

Dr. Zackai added that Donna 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 togetherShe is innovative, ambitious, never stops until the job is done, and then goes the extra mile looking toward the future.

About The Childrens Hospital of Philadelphia: The Childrens Hospital of Philadelphia was founded in 1855 as the nations first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Childrens Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 516-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu.

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DiGeorge Medal Honors Genetics Expert for Longstanding Work on Chromosome Deletion Syndrome

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