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Contact the Neurogenetics Program

  • 1-617-355-8994

Neurogenetics Program Overview

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The Neurogenetics Program at Boston Children’s Hospital is a collaboration of multiple clinics and medical professionals to provide specialty care for children with neurogenetic disorders and their families.

Pediatric neurogenetic disorders are diseases of the brain, spinal cord, nerves and muscles that are caused by changes in genes or chromosomes. There are hundreds of neurogenetic disorders that may present in very different ways. They may cause problems from birth or only become evident in later childhood. They include malformations of the brain, neurodevelopmental disorders, genetic syndromes as well as problems such as seizures, loss of muscle tone, balance and learning.

The Boston Children’s Hospital Neurogenetics Program provides:

  • Evaluation and clinical care for children with genetic conditions of the nervous system
  • State of the art diagnostic testing
  • Research into the biology, evolution, and treatments for these conditions
  • Coordination with other specialists for optimal care of each patient and family


Here at Boston Children’s Hospital, we have a number of specialty clinics within the Neurogenetics Program that are designed to provide care to patients who have a suspected or diagnosed neurogenetic disorder. These include:


These conditions are often rare, and require sophisticated diagnostic testing such as:

  • MRI
  • Genetic testing
  • Biochemical testing

The Neurogenetics Program works closely with experts across Boston Children’s, including:

  • imaging specialists
  • geneticists and genetic counselors
  • laboratory medicine specialists
  • therapists
  • other medical specialists
  • social workers
  • researchers

Specialists in the Neurogenetics Program are also conducting groundbreaking research and clinical trials in neurogenetics

The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO