Donna McDonald-McGinn


Donna McDonald-McGinn
Donna McDonald-McGinn
Prof. Donna McDonald-McGinn is Director of the 22q and You Center, Chief of the Section of Genetic Counseling, and Associate Director of the Clinical Genetics Center at the Children's Hospital of Philadelphia and Clinical Professor of Pediatrics at the Perelman School of Medicine of the University of Pennsylvania.

Prof. McDonald-McGinn was born and raised in Philadelphia. She obtained her Bachelor of Arts Degrees in Biology and Sociology from Rosemont College, in Rosemont, PA and Master of Science in Human Genetics from Sarah Lawrence College, in Bronxville, NY. She arrived at the Children's Hospital of Philadelphia as a Genetic Counseling student in 1983 hoping to shadow renowned dysmorphologist Elaine Zackai, MD, and never left - officially joining the Division of Human Genetics in 1985. She began working on the chromosome 22q11.2 deletion syndrome following the development of a 22q11.2 specific FISH probe in the laboratory of Beverly Emanuel, PhD, in 1992. Shortly thereafter, she founded the 22q and You Center, a pioneering holistic care program for individuals and families affected by chromosome 22q11.2 differences, a program that remains to this day a trailblazer in the field.

Prof. McDonald-McGinn has spent much of her professional career striving to support education, multidisciplinary care, and collaborative outcomes research involving the relationship of 22q11.2 deletion syndrome with associated birth defects, medical problems, cognitive deficits, and behavioral health. Within this area, she has published more than 300 manuscripts, chapters and reviews and led global cooperative initiatives including establishing chromosome 22q11.2 deletion syndrome specific pediatric and adult clinical practice guidelines. She is a regularly invited lecturer at national and international scientific and family meetings and academic institutes, as well as a much sought after webinar presenter. She is a perennial thesis advisor, teacher, and student mentor, endeavoring to inspire the next generation of chromosome 22q11.2 experts. She acts as principle investigator for several United States National Institute of Health research studies and privately funded programs.

Prof. McDonald-McGinn's initiation into the international 22q11.2 community began when serving as the invited keynote speaker at the 1st International 22q11.2 Conference in Strasbourg, France in 1998, solidifying her now career-long commitment to the patients she serves and her new found colleagues and friends. In 2012, she received the Angelo DiGeorge Memorial Medal of Honor, an international award recognizing her contributions to the "global understanding of the 22q11.2 deletion syndrome."

Prof. McDonald-McGinn led the establishment of the 22q11.2 Society, established in 2013, as a Founding Member, Trustee, and Secretary. She was named Chair of the 22q11.2 Society in 2019, affording her the opportunity to strengthen her close national and international ties with healthcare providers, junior investigators, and basic scientists across numerous disciplines. In 2018, she and her 22q and You Center team at the Children's Hospital of Philadelphia received the 22q11.2 Society's Inaugural Special Service Award for their "outstanding, longstanding, exemplary and unwavering commitment and contributions to the chromosome 22q11.2 community." During her career, she has served/is currently serving as a member of the International 22q11.2 Modifier Gene Consortium, Program Lead for the International 22q11.2 Biennial Conferences, and Principle Investigator for the International 22q11.2 Brain and Behavior Consortium (IBBC) and Genes to Mental Health Network (G2MH).

As a current and Founding Board Member of the family support organization, the International 22q11.2 Foundation, established in 2003, Prof. McDonald-McGinn remains a tireless advocate for family support, spearheading the annual advocacy event, 22q at the Zoo - Worldwide Awareness Day, held in more than 125 locations globally, as well as, various additional rhyming events including 22q and Boo, 22k for 22q and 2.2 for 22q.