Muscle and Nerve Disorders

Program Duration: 2-5 years

The fellowship program in muscle and nerve disorders trains pediatric and adult neurologists in inflammatory and genetic muscle and nerve diseases in preparation for an academic career. Fellows have the opportunity to study basic disease mechanisms using different model systems and develop gene and mechanism directed therapeutic approaches. Various techniques in genomic medicine and preclinical translational science can be explored (including whole exome sequencing, whole genome sequencing, RNA sequencing, gene and transcript targeting and editing, generation of inducible pluripotent stem cells and animal models). Muscle and Nerve Fellows also have the opportunity to participate in designing and conducting therapeutic clinical trials using such pharmacological and biological approaches. A number of cohorts of patients with specific muscle and nerve disorders are followed for establishing a genetic diagnosis as well as for outcome measure and interventional research. 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 muscle and nerve diseases applying next generation genomic technologies in conjunction with extended phenotyping. The first year of this fellowship can be at the Johns Hopkins University Hospital as part of a JHU/NINDS joint neuromuscular fellowship program.


  • Congenital muscular dystrophies
  • Congenital myopathies
  • Congenital myasthenic syndromes
  • Inherited myopathies
  • Muscular dystrophies
  • Inherited disorders of the peripheral nervous system and motor neuron
  • PIEZO2 deficiency syndrome
  • Early onset spastic paraplegia
  • Gene and RNA directed therapeutic approaches
  • Muscle regeneration
  • Autoimmune muscle disease, including dermatomyositis, polymyositis, and statin-triggered necrotizing myopathy.
  • Inclusion Body Myositis


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

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

Christopher Grunseich, M.D., Senior Research Physician, Hereditary Neurological Disease Section, Neurogenetics Branch, NINDS,

Andrew Mammen, M.D., Ph.D., Unit Leader, Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Regulation, NIAMS,