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Neurogenetics Program


The Division of Neurogenetics coordinates diagnostic testing, treatment, and ongoing care for children and adolescents with neurogenetic conditions, and ensures your child has access to all of the necessary specialists.

We are associated with Children’s Division of Neurology, one of the largest teams in the country for comprehensive care of families and children affected by pediatric neurology conditions.

Family-Centered Care
What sets Children’s National apart is our commitment to the entire family. The Neurogenetics Program surrounds patients and families with a complete care team made up of:
• Clinical social workers
• Genetic counselors
• Geneticists focused in metabolic and biochemical conditions
• Nurse practitioners
• Neuro-opthalmologists
• Pediatric neurologists with specialization in genetics

Physicians refer patients to the Neurogenetics Program for advanced diagnostic testing and care. Many neurogenetic conditions are rare and the program’s pediatric specialists have the expertise to recognize and accurately diagnose these conditions in children.

As a way to help patients and their families cope with illness, we also coordinate individual and family support groups throughout the greater Baltimore/Washington, DC region.

Specialized Care
A neurogenetic condition is caused by incomplete or compromised genetic coding at the cellular level. It may be passed on from a parent or may occur spontaneously, meaning no family member has had the condition before.

Neurogenetic conditions can present in a variety of ways including developmental delay, seizures, abnormal muscle tone or movements, or other effects on the nervous system. Conditions commonly treated through the program include:
• Angelman Syndrome
• Ataxias
• Brain Malformation Disorders
• Cerebral folate deficiency
• Congenital Disorders of Glycosylation
• Familial Autism
• Familial Epilepsy
• Fragile X Syndrome
• Hypotonia
• Leukodystrophies
• Mental Retardation
• Migrational Diseases
• Mitochondrial Disorders
• Neurogenetic Disorders
• Neurometabolic Disorders
• Neuronal Migration Disorders
• Neurotransmitter Disorders
• Rett Syndrome

Research at Children’s National
Our desire to provide the most compassionate clinical care is complemented by our dedication to continuously improving treatments and the quality of life for patients and their families.

Children’s physicians and research fellows collaborate with related professionals, including researchers from the National Institutes of Health (NIH), on research and clinical trials.

These relationships afford patients the opportunity participate in clinical research protocols at a Children’s National Medical Center, the National Institutes of Health, and other centers.

For more information about current research and clinical trials, speak with a member of your child’s care team or a member of the program staff.

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