Clinician Investigator
Genetics Program,
Mass General Research Institute
|
Pediatrician
Pediatrics-Genetics,
Massachusetts General Hospital
|
MD Yale University School of Medicine 1978 |
MPH Harvard T.H. Chan School of Public Health 1983 |
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.