Neurogenetics Program

Who we are

The Boston Children’s Hospital Neurogenetics Program aims to provide:

• specialist clinical care for children with genetic conditions of the nervous system
• optimal diagnostic testing
• research into the biology, evolution and treatments for these conditions

Pediatric neurogenetic disorders are diseases of the brain, spinal cord, nerves and muscle that are caused by changes in genes or chromosomes. They may cause problems from birth or only become evident in later childhood. They include malformations of the brain, neurodevelopmental disorders such as Rett syndrome as well as problems such as seizures, muscle tone, balance and learning.

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

• MRI
• DNA or chromosome 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
• medical specialists such as neurosurgeons, gastroenterologists and orthopedic surgeons
• social workers
• researchers

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