Physician Investigator (Cl) Genetics Program, Mass General Research Institute

Pediatrician Pediatrics-Genetics, Massachusetts General Hospital

MD Yale University School of Medicine 1978

abnormalities, multiple; chromosome deletion; diaphragm; hernia, diaphragmatic; ldl-receptor related protein 2; low density lipoprotein receptor-related protein-2; nadph oxidase; williams syndrome Dr Pober's research focuses on the natural history of Williams syndrome. She particularly seeks to understand why some, but not all, persons with Williams syndrome become overweight and why a subset develop the distinct phenotype  referred to as lipedema. Likewise, she studies why only some individuals with Williams syndrome develop decreased bone density or diabetes.  A variety of approaches including detailed clinical characterization and examination of genetic variation are underway.