Dr. Emanuel’s lab made the initial connection between 22q abnormalities and DiGeorge syndrome (DGS), subsequently discovering that microdeletions of the region are responsible for the phenotypes of DGS and velocardiofacial syndrome (VCFS). As director of the Genome Center for Human Chromosome 22, Dr. Emanuel created detailed maps of the region of 22q deleted, and elucidated the DNA sequence of the deleted region. Her group identified many of the genes on 22q11.2, including TBX1, described the low copy repeats (LCRs) responsible for the deletion, and studied meiotic mechanisms of chromosome 22q11.2 rearrangements leading to the deletions. Currently, Dr. Emanuel uses novel optical mapping technologies to refine the detailed structure of the LCRs.

Dr. Emanuel’s continued analysis of constitutional t(11;22) revealed a mechanism for chromosomal rearrangement mediated by the genomic instability of palindromic AT-rich repeats. This led to the discovery of other palindrome-mediated, recurrent, constitutional rearrangements, including the t(8;22), t(17;22) and t(3;8), involved in renal cell carcinoma. The observation that many of these constitutional rearrangements are detected in normal sperm opened a novel line of investigation into meiotic mechanisms of palindrome-mediated rearrangements.

Her efforts to identify modifiers of the phenotype of individuals carrying the same genetic lesion are ongoing. Many of her studies have focused on uncovering genetic disease mechanisms, such as unmasking a mutation on the remaining allele in the subjects with the deletion or looking for genomic variants that can explain phenotypic differences amongst patients with the same genetic lesion.

Dr. Emanuel’s notable accomplishments include:

• Finding the syndrome resulting from the meiotic malsegregation of t(11;22), named Emanuel syndrome
• Describing palindromic AT-rich repeats leading to recurrent constitutional translocations
• Identifying 22q11.2 deletion as causative DGS and VCFS
• Describing genetic differences between subjects with a heart defect and 22q11.2 deletion syndrome
• Detailing the highly variable structure of the LCRs responsible for the 22q11.2 deletion syndrome

BA, University of Pennsylvania (Biology), 1962

PhD, University of Pennsylvania (Microbiology), 1972

Investigator

Charles E.H. Upham Endowed Chair in Pediatric Medicine

Professor of Genetics

American Society of Human Genetics, 1980-

American College of Medical Genetics, 1990-

American Association for the Advancement of Science, 2001-

Distinguished Visiting Professor, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, 1997

Distinguished Lecturer for Distinguished Contributions in Molecular Genetics, Department of Biochemical and Molecular Biology, University of Oklahoma, 1997

The Benjamin Franklin Founders Award, 2001

The Herbert and Esther Bennett Brandwein Award in Genetic Research, University of Connecticut, Department of Genetics & Developmental Biology, 2007