The 22q11.2 Society

Promoting research, diagnosis, prognosis, and management of 22q11.2DS & related disorders

Donna McDonald-McGinn


Donna McDonald-McGinn received a Bachelor of Arts in Biology and Sociology from Rosemont College. Thereafter she studied the effects of tobacco exposure and hyperbaric oxygen on brain and lung function at the Medical College of Pennsylvania. Combining longstanding interests in basic and social sciences, she went on to receive a Master's of Science in Human Genetics from Sarah Lawrence College, concurrently working at the Children's Hospital of Philadelphia (CHOP).

Upon graduation, Donna accepted a position as a genetic counselor at CHOP, beginning her lifelong career there.

Later named associate director of Clinical Genetics, with the advent of FISH studies she established a multidisciplinary clinic for 22q11.2 deletion syndrome.

Subsequently named Director of the 22q and You Center, Donna presented the keynote address at the inaugural International 22q11.2DS Meeting in Strasbourg, France and has since served in numerous leadership roles including meetings chair.

She joined parent activists in establishing the International 22q11.2 Foundation and other professionals in establishing the 22q11.2 Society, the International 22q11.2DS Modifier Gene Consortium, and the International 22q11.2 Brain and Behavior Consortium.

As a teacher and researcher, she received the Dean's Award for Excellence in Medical Student Teaching from the University of Pennsylvania; was named a Stokes Investigator at CHOP; received the Angelo DiGeorge Memorial Medal of Honor; and was appointed Clinical Professor of Pediatrics at the Perelman School of Medicine of the University of Pennsylvania.

Professor McDonald-McGinn has authored or co-authored more than 200 peer reviewed original articles, over 300 abstracts, 12 book chapters, an annual Newsletter for families, and a Handbook for families and professionals on 22q11.2DS. She serves as a reviewer for more than 10 journals, has sat on more than 25 academic committees, and has presented as an invited speaker at more than 60 scientific/family meetings including multiple Grand Rounds presentations.

Finally, she has partnered with family organizations in numerous ways to improve detection, awareness, care, and quality of life including: establishing pediatric and adult healthcare guidelines for patients with 22q11.2DS; petitioning governments towards initiating newborn screening for 22q11.2DS; organizing events such as 22k for 22q; 22q and Boo; and conceiving, organizing and overseeing a now annual event: 22q at the Zoo - Worldwide Awareness Day.

Editor's note: Prof. McDonald-McGinn was part of the group that received the inaugural Special Service Award in 2018.


The 22q11.2 Society Registered Charity No. 1165896