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Neurogenetics

Contact number | 202-476-2120
Neurological disorders affect your child’s brain, spinal cord and muscles, making it difficult to think, learn, speak or move normally. Neurogenetic disorders are neurological conditions caused by a person’s genetics. When genetic chemicals inside the cells act abnormally, they can cause developmental delays, seizures or abnormal muscle tone or movement. Children can inherit genetic abnormalities from family, but genes can also change later in life. These changes can be associated with many disorders, including epilepsy and autism.

Why Choose Us?

The Neurogenetics Program at Children’s National Health System is part of our Division of Neurology – a national leader in neurological care for kids. Our program focuses on those whose neurological conditions involve unique inherited or genetic traits. Working across medical disciplines, the Neurogenetics team at Children’s National provides comprehensive care for a wide array of neurogenetic disorders. We’re here to help kids throughout childhood and as they transition into adulthood.

For over two decades, we have applied state-of-the-art research, technologies and skills to study, diagnose and treat rare diseases, including neurogenetic diseases and mitochondrial disorders. Our program has earned international recognition and serves as a model for others. 

Many neurogenetic conditions are rare. Our pediatric specialists have the expertise to recognize and accurately diagnose these conditions in children. We evaluate and coordinate care to ensure that your child has access to all of the necessary specialists.

We know that:

  • Families come first. These are complex conditions. On some days, kids and parents will find it hard to cope. We understand that side of your journey. Your family is part of our team. In addition to delivering the best neurogenetic care, we’ll make living with this illness a little easier. We coordinate individual and family support groups. We provide education and outreach for families, schools and health providers. We’ll listen and respond to all of your changing needs along the way.
  • Personalized science should be at your service. From eye-hand coordination to brainpower, the world of neurogenetics is as unique as a child’s fingerprint. At Children’s National, your child has access to leading experts and specialized services. Our network of specialists includes genetic counseling, geneticists focused in metabolic and biochemical conditions, neuropsychologyneuro-ophthalmology and others.
  • Neurogenetic medical breakthroughs start here. From common conditions to rare disorders, our doctors and scientists study neurogenetics to improve care while working toward a cure. We collaborate across specialties and with other leaders in the field. Our in-depth neurogenetic studies advance our understanding and provide evidence-based treatments for genetic diseases and neurodevelopmental disorders. We never stop improving the quality of life for our young patients who struggle with neurodevelopmental disabilities. 
  • Subspecialty programs should be there when you need them. Neurogenetic disorders aren’t one-size-fits-most. That’s why we continually integrate care across interdisciplinary subspecialties. When your child has a highly specific need, our highly specialized programs step in. Each is dedicated to managing very specific conditions, but all work together to care for your child. Subspecialty programs include:
    • Fragile X. Our team of experts performs advanced neurogenetic and neurodevelopmental research. This includes improved diagnosis and care for Fragile X – a condition with a gene involved in brain development.
    • Neurogenetic dyspraxia. Children’s National is one of the few children’s hospitals with expertise in evaluating speech and language disorders associated with certain neurogenetic disabilities. Our experts will develop a treatment plan customized for each child’s unique condition.
    • Adult mitochondrial program. Doctors with advanced neurology and genetics expertise provide comprehensive evaluation and treatment recommendations for adults with mitochondrial and related disorders. Our team approach includes collaboration with the internist, family medicine practitioner, adult neurologist and others.
    • Epilepsy neurogenetics. We provide a comprehensive evaluation by a team of experts, including an epileptologist – a neurologist who specializes in working with patients with epilepsy – a nurse practitioner, and a genetic counselor. Our team will discuss a treatment plan based on an individual’s unique genetic makeup.

Conditions We Treat

Neurogenetic conditions we treat at Children’s National include:

  • Angelman syndrome 
  • Neuroceroid lipofuscinosis
  • Ataxias
  • Neurogenetic disorders
  • Brain malformation disorders
  • Neurometabolic disorders
  • Familial autism 
  • Neuronal migration disorders
  • Familial epilepsy 
  • Neurotransmitter disorders
  • Fragile X syndrome 
  • Phelan McDermid syndrome
  • Hypotonia 
  • Rett syndrome
  • Intellectual disability
  • Sanfillipo syndrome
  • Migrational diseases
  • Smith Lemli Opitz syndrome
  • Mitochondrial disorders
  • Smith Magenis syndrome
  • Niemann-Pick Type C (NPC)

Multidisciplinary Team

The neurogenetics team at Children’s National includes these and many other specialists:

  • Neurodevelopmental specialists
  • Genetic counselors
  • Geneticists specializing in metabolic and biochemical conditions
  • Neuro-ophthalmologists
  • Nurse practitioners
  • Pediatric neurologists with specialization in genetics
  • Neuroradiologists
  • Clinical social workers
  • Speech pathologists

Contact Us

For more information, call us at 202-476-2120.

Neurogenetics Team