Dr. Beverly Emanuel

Biography

Beverly S. Emanuel is a human geneticist specializing in the investigation of diseases caused by abnormalities in human chromosomes, particularly focusing on chromosome 22. Her research has been instrumental in identifying the genetic basis of disorders such as DiGeorge Syndrome (DGS) and Velocardiofacial Syndrome (VCFS), where she and her colleagues discovered that a majority of patients carry a deletion in a specific region of chromosome 22. She developed a standard diagnostic test that is widely used in laboratories across the globe to assess the presence of these deletions and their likelihood of recurrence. Emanuel's lab conducts molecular analyses of deletion and translocation breakpoint regions and has made significant contributions to understanding chromosomal disorders such as the Supernumerary der(22) Syndrome. Her work involves various techniques including fluorescence in situ hybridization, PCR, and Southern blotting to study the etiology of chromosomal disorders. Additionally, Emanuel has been actively researching uncommon DNA structures at translocation breakpoints, and has been looking into the physical arrangements of chromosomes during meiosis.

Research Interests

Experience