Mary-Alice Abbott

Mary-Alice Abbott is an Associate Professor in the Department of Pediatrics at UMass Chan Medical School, with an affiliated position at the T.H. Chan School of Medicine. Her academic background includes a BA in Physics from Wellesley College, followed by an MD and PhD in Neuroscience from the University of Massachusetts Medical School. Dr. Abbott specializes in pediatric genetics, neonatal screening, and rare disease research with a focus on genetic syndromes, congenital anomalies, and case-based studies. Her work encompasses prenatal diagnostics, endocrine disorders, and collaborative efforts in public health initiatives like newborn screening programs for Spinal Muscular Atrophy. She has co-authored over 10 peer-reviewed articles on topics ranging from mitochondrial diseases to immunologic responses in genetic conditions.

Education:

• B.A. Physics, Wellesley College, Wellesley, MA
• M.D., University of Massachusetts Medical School, Worcester, MA
• Ph.D. Neuroscience, University of Massachusetts Medical School, Worcester, MA

Research Interests:

• Genetic syndromes and prenatal diagnosis
• Neonatal screening protocols and population health
• Pediatric endocrine disorders with genetic origins
• Rare disease terminology and patient care ethics
• Case studies of complex genetic and metabolic conditions

Publications Trends: Her articles span 2005–2023, focusing on genetic syndromes (e.g., Hartsfield, Hurler), mitochondrial disorders (MELAS, liver-intestine transplants), and neonatal screening. Recent work emphasizes prenatal genetic discoveries and public health applications.

Collaborations: Works with co-authors like Dr. Gottfried Schlaug (Neurology) and Dr. Anne Marie Comeau (Neonatal Medicine). Active in interdisciplinary networks addressing pediatric genetic challenges.

Labs/Teams: Affiliated with pediatric genetics and neonatal research teams at UMass Chan, though specific lab names are not listed in the profile.