22q and You Member Receives Prestigious Young Investigator Award

Daniel E. McGinn, a member of the 22q and You Center at Children's Hospital of Philadelphia (CHOP), recently received the Junior Investigator Award for Best Oral Presentation at the Heart and Soul Workshop, held by the National Institute of Health on April 2-3, 2019, in Bethesda, MD. The meeting was designed to bring together participants with different areas of expertise to discuss dosage effects of copy number variants on brain, behavior. and the cardiovascular system in 7q11.23 deletion syndrome (Williams syndrome) and 22q11.2 deletion syndrome. Additionally, several other members of the 22q and You Center joined the panel of internationally renowned speakers at the event.

McGinn, a genetic counseling assistant in the Division of Human Genetics and clinical coordinator of the 22q and You Center, received the award for his report on 22q11.2 deletion syndrome where he described the association of lower IQ scores in the offspring of parents with the chromosome 22q11.2 deletion, with a particularly significant difference if the deletion was inherited from the mother rather than the father.

McGinn, who noted that these findings have important implications for clinical management and genetic counseling, is preparing this work for submission to a scientific journal.