Beverly S. Emanuel

Beverly S. Emanuel, PhD is the Charles E.H. Upham Professor of Pediatrics in the Department of Pediatrics at the University of Pennsylvania's Perelman School of Medicine. She specializes in Human Genetics within the Division of Human Genetics at Children's Hospital of Philadelphia (CHOP), where she maintains her laboratory in the ARC Building. Dr. Emanuel has dedicated her career to understanding chromosomal abnormalities, particularly those involving chromosome 22.

Dr. Emanuel's research focuses on the genetic basis of DiGeorge Syndrome (DGS) and Velocardiofacial Syndrome (VCFS), with her laboratory having identified that most patients with these conditions carry a deletion in the same region of chromosome 22. Her team developed the standard diagnostic test used worldwide to assess 22q11.2 deletions and recurrence risks. Current research examines molecular mechanisms of deletion and translocation breakpoints, particularly the t(11;22)(q23;q11) translocation, using techniques including fluorescence in situ hybridization, PCR, Southern blot, and pulsed-field gel electrophoresis.

Her extensive publication record shows consistent productivity through 2025, with research spanning molecular genetics, clinical manifestations of 22q11.2 deletion syndrome, neurocognitive aspects, and structural genomic mechanisms. Recent work has expanded to include proteomic analyses, neuroimaging studies, and investigations of population-specific genomic architecture affecting 22q11.2 deletion mechanisms.

• Diplomate of the American Board of Medical Genetics as a Clinical Cytogeneticist (1981)
• Diplomate of the American Board of Medical Genetics as a Ph.D. Medical Geneticist (1981)
• Charles E.H. Upham Professorship in Pediatrics

Dr. Emanuel has mentored numerous students and collaborators through the Genomics and Computational Biology Graduate Group at UPenn. Her research has been supported by continuous funding from the National Institutes of Health and other organizations, enabling her laboratory to maintain cutting-edge genomic technologies. She leads collaborative studies on 22q11.2 deletion syndrome through the International 22q11.2 Brain and Behavior Consortium, facilitating large-scale international research efforts.

Her laboratory at CHOP's Joseph Stokes Jr. Research Institute serves as a hub for 22q11.2 deletion syndrome research, bringing together geneticists, clinicians, neuroscientists, and computational biologists to investigate the molecular mechanisms and clinical manifestations of this complex genomic disorder.