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, and genetic syndromes, as well as problems such as seizures, loss of muscle tone and 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:
- disorders of eye movements and cranial nerves
- epilepsy
- mitochondrial disorders
- neurometabolic disorders
- brain malformations such as agenesis of the corpus callosum and polymicrogyria
- muscular dystrophies
- congenital myopathies
- Rett syndrome
- CDKL5
- Fragile X syndrome
- chromosomal disorders
- tuberous sclerosis complex (TSC)
- Sturge-Weber Syndrome Clinic
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.
