22q...What’s It To You?


Donna McDonald-McGinn, MS, LCGC
Children’s Hospital of Philadelphia
Learning Outcomes:

  • Recognize the importance of several developmental genes located within the 22q11.2 deletion and the role of 22q11.2 deletions in unmasking several rare autosomal recessive conditions.

  • Define the current status on prenatal ascertainment and newborn screening for 22q11.2 deletion syndrome.

  • Identify the need for multidisciplinary centers and collaborative research studies, in particular those related to behavioral health for children and adults with 22q11.2 deletion syndrome.

  • Donna M. McDonald-McGinn, MS, LCGC is recognized as an international leader in conditions associated with copy number variants of chromosome 22q11.2 following longstanding investigations of patients with 22q11.2 deletion syndrome that began in 1992. She received her Bachelor of Arts Degree in Biology and Sociology from Rosemont College in 1981, and her Masters of Science Degree in Human Genetics from Sarah Lawrence College in 1985. Professor McDonald-McGinn currently serves as the director of a multidisciplinary care clinic, the 22q and You Center, at the Children’s Hospital of Philadelphia. She presented the keynote address at the inaugural International 22q11.2 Deletion Meeting in Strasbourg, France in 1998; joined parent activists in establishing the International 22q11.2 Foundation in 2003; became a founding member of the International 22q11.2DS Modifier Gene Consortium in 2006; received the Dean’s Award for Excellence in Medical Student Teaching from the University of PA in 2007; and conceived and launched 22q at the Zoo – Worldwide Awareness Day in 2011. In addition, she led the establishment of Practical Guidelines for Managing patients with 22q11.2 Deletion Syndrome; acted as Secretary General for the 8th Biennial International 22q11.2DS Meeting in Orlando, Florida in 2012; was named a Joseph Stokes Research Investigator at CHOP in 2012; and received the Angelo DiGeorge Memorial Medal of Honor in 2012. In 2012, Professor McDonald-McGinn was named Co-Director of the International 22q11.2DS Brain-Behavior Consortium and in 2013 was appointed a Clinical Professor of Pediatrics at the Perelman School of Medicine of the University of Pennsylvania, as well as becoming a founding Member and Secretary of the 22q1.2 Society. She was named Inaugural Chief of the Section of Genetic Counseling at CHOP in 2014; and Program Chair for the 10th Biennial International 22q11.2 Conference in Sirmione, Italy in 2016 and the 11th Biennial Meeting to be held in Whistler, Canada in 2018. Finally, over her 32 year career, Professor McDonald-McGinn has been a staunch advocate for Genetic Counselors in supporting career trajectories, research initiatives, and publications for individuals across multiple training programs and the CHOP-Penn enterprise.