Neurogenetics

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
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. Neurogenetics Fellows have the opportunity to study basic disease mechanisms using different model systems. These include various techniques in genomics (including whole exome sequencing, whole genome sequencing and RNA sequencing), generation of inducible pluripotent stem cells and animal models. Neurogenetics Fellows also have the opportunity to participate in designing and conducting therapeutic clinical trials using pharmacological and biological approaches. The Neurogenetics Branch follows a number of cohorts of patients with genetic illnesses. A genetic outreach program is in place to identify and characterize pediatric and adult patients and their families with both new and previously known hereditary neurological diseases.

AREAS OF CURRENT RESEARCH

  • Kennedy’s disease
  • Spinocerebellar ataxia
  • Spinal muscular atrophy
  • Hereditary motor neuron disease
  • Friedreich’s ataxia
  • Muscular dystrophies
  • Congenital muscular dystrophies
  • Congenital myopathies
  • Congenital myasthenic syndromes
  • Giant axonal neuropathy
  • Myofibrillar myopathies
  • Myotonic Dystrophy
  • Atypical Parkinson’s Disease
  • Early Onset Parkinson's Disease
  • Frontotemporal Dementia
  • Undiagnosed Neurogenetic Disorders

FACULTY AND GME PAGE

Carsten Bönnemann, M.D., habil.,  Acting Chief, Neurogenetics Branch; Chief, Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS, carsten.bonnemann@nih.gov

Michael Ward, M.D., Ph.D., Investigator, Inherited Neurodegenerative Diseases Unit, Neurogenetics Branch, NINDS, wardme@nih.gov

Derek Narendra, M.D., Ph.D., Lasker Clinical Research Scholar Investigator, Inherited Movement Disorders Unit, Neurogenetics Branch, NINDS, derek.narendra@nih.gov

Sonja Scholz, M.D., Ph.D., Lasker Clinical Research Scholar Investigator, Neurodegenerative Diseases Research Unit, Neurogenetics Branch, NINDS, sonja.scholz@nih.gov

Christopher Grunseich, M.D., Senior Research Physician, Hereditary Neurological Disease Section, Neurogenetics Branch, NINDS, christopher.grunseich@nih.gov

A. Reghan Foley, M.D., MD(Res), Senior Research Physician, Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS, reghan.foley@nih.gov

Justin Kwan, M.D., Director, Neurodegenerative Disorder Clinic, NINDS, justin.kwan@nih.gov

Bryan Traynor, M.D., Ph.D., Chief, Neuromuscular Diseases Research Section, Laboratory of Genetics, NIA, traynorb@mail.nih.gov