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 Program Duration: 2–5 years

FROM LEFT TO RIGHT: Rescue of neuromuscular junctions in spinal muscular atrophy model; IGF-1 mitigates Kennedy’s disease model

The mission of the Neurogenetics Branch is to reduce the burden of disease in patients with hereditary neurological disease. Fellows have the opportunity to study basic disease mechanisms using different model systems. These include various techniques in genomics, generation of inducible pleuripotent stem cells and animal models. The Fellows also have the opportunity to participate in conducting and designing therapeutic clinical trials using pharmacological and biological approaches. The Branch follows a number of cohorts of patients with genetic illnesses. A genetic outreach program is in place to identify and characterize patients, families, and children with both new and previously known hereditary neurological diseases.

Areas of Current Research

Huntington’s disease
Kennedy’s disease
Spinocerebellar ataxia
Spinal muscular atrophy
Hereditary motor neuron disease
Early onset muscle disorders
Hereditary spastic paraplegias
Friedreich’s ataxia
Muscular dystrophies (Duchenne and LGMD)
Congenital muscular dystrophies and myopathies
• Atypical Parkinsons
• Frontotemporal Dementia
• Undiagnosed Neurogenetic Disorders


Kenneth Fischbeck, M.D., Chief, Neurogenetics Branch,

Craig Blackstone, M.D., Ph.D., Chief, Cell Biology Section,

Carsten Bönnemann, M.D., Chief, Neuromuscular and Neurogenetic Disorders of Childhood Section,

Ami Mankodi, M.D., Investigator, Hereditary Muscle Diseases Unit, Neurogenetics Branch,

Sonja Scholz, M.D., Assistant Clinical Investigator, Neurogenetics Branch,

Michael Ward, M.D., Assistant Clinical Investigator, Neurogenetics Branch,

Mary Kay Floeter, M.D., Ph.D., Chief, Motor Neuron Diseases Unit,

Bryan Traynor, M.D., Ph.D., Neuromuscular Diseases Research Unit, Laboratory of Genetics, NIA,

Reghan Foley, M.D., Staff Clinician, Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch,

Christopher Grunseich, M.D., Staff Clinician, Neurogenetics Branch,