Overview

Dr Pober is a medical geneticist who provides care for persons of all ages with Williams syndrome.  She also performs clinical research on issues that impact their medical health, such as diabetes, obesity and bone health. Dr Pober directs the Williams syndrome Registry (www.williams-syndrome.org/registry-families) to promote research  and further the understanding of the natural history of the disorder. 

Departments

Genetics

Pediatrics

Centers & Specialties

MassGeneral Hospital for Children

Clinical Interests
  • Williams syndrome
  • Diaphragmatic hernia
  • Birth defects
  • Hereditary malformations
  • Genetics
  • Genetic testing
Medical Education
  • MD, Yale University School of Medicine
  • Residency, Tufts Medical Center
  • Fellowship, Massachusetts General Hospital
Board Certifications
  • Clinical Cytogenetic
  • Clinical Genetics (M.D.)
  • Pediatrics
Locations
  • Boston: Massachusetts General Hospital
Existing Patients
Patient Gateway
Insurances Accepted
  • Aetna Health Inc.
  • AllWays Health (NHP) - ACD
  • AllWays Health (NHP) - PBO
  • Beech Street
  • Blue Cross Blue Shield - Blue Care 65
  • Blue Cross Blue Shield - Indemnity
  • Blue Cross Blue Shield - Managed Care
  • Blue Cross Blue Shield - Partners Plus
  • BMC HealthNet Mass Health MCO/ACO
  • Cigna (PAL #'s)
  • Commonwealth Care Alliance
  • Fallon Community HealthCare
  • Great-West Healthcare (formally One Health Plan)
  • Harvard Pilgrim Health Plan - PBO
  • Health Care Value Management (HCVM)
  • Humana/Choice Care PPO
  • MassHealth
  • Medicare
  • Medicare - ACD
  • OSW - Connecticut
  • OSW - Maine
  • OSW - New Hampshire
  • OSW - New York
  • OSW - Rhode Island
  • OSW - Vermont
  • Private Health Care Systems (PHCS)
  • Senior Whole Health
  • TriCare
  • Tufts Health Plan
  • Unicare
  • United Healthcare (non-HMO) - ACD
  • United Healthcare (non-HMO) - PBO
  • Well Sense Pediatrics

Note: This provider may accept more insurance plans than shown; please call the practice to find out if your plan is accepted.

Patient Age Group
Pediatric and Adult
Provider Gender
Female

Biography

Dr Pober received her BA from Yale University with a major in Psychology. She then completed her MD at the Yale School of Medicine and did Pediatrics Residency at Tufts-New England Medical Center in Boston, MA. Subsequently, she obtained an MPH  from the Harvard School of Public Health which sparked her interest in the epidemiology of birth defects. Soon thereafter she did a fellowship, focusing on birth defects epidemiology, with Dr Lewis B Holmes at MGH.  Thus began her training as a medical geneticist. She encountered several patients with Williams syndrome early after fellowship and found it so compelling to work with these individuals and their families that she started one of the 1st multidisciplinary clinics for Williams syndrome in 1987. She has been involved with the Williams syndrome community, providing care and performing clinical research, ever since. 

Research & Publications

Research Summary

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. 

Publications

Select Publications on Williams Syndrome since 2014

  • A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe emphysema.  Wojcik MH, Carmichael N, Biebrt FR, Weiner DC, Madan DC, Pober BR, Raby BA. Am J Med Genet A. 2017 173:1159-1171.
  • Altered body composition, lipedema and decreased bone density in individuals with Williams syndrome: A preliminary report.  Waxler JL, Guardino C, Feinn RS, Lee H, Pober BR, Stanley TL. Eur J Med Genet. 2017 60:250256.
  • Hypercalcemia in Patients with Williams syndrome. Sindhar S, Lugo M, Levin MD, Danback JR, Brink BD, Yu E, Dietzen DJ, Clark AL, Purgert CA, Waxler JL, Elder RW, Pober BR, Kozel BA. J Pediatr. 2016 178:254-260.
  • Attention Bias to Emotional Faces Varies by IQ and Anxiety in Williams syndrome. McGrath LM, Oates JM, Dai YG, Dodd HF, Waxler J, Clements CC, Weil S, Hoffnagle A, Anderson E, MacRae R, Mullett J, McDougle CJ, Pober BR, Smoller JW. J Autism Dev Disord. 2016 46:2174-85.
  • Skin Findings in Williams syndrome. Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, Pober BR. Am J Med Genet A. 2014 164A:2217-25.

News & Events

Contact

Genetics
175 Cambridge St
5th floor
Boston, MA 02114-2696
Phone: 617-726-1561
Fax: 617-726-1566