Fellowship Program Directors: A. Reghan Foley, MD and Christopher Grunseich, MD
Overview
This fellowship program trains pediatric and adult neuromuscular specialists in clinical research of genetic disorders of muscle and nerve in preparation for an academic career. A number of cohorts of patients with specific muscle and nerve disorders are evaluated for establishing a genetic diagnosis as well as for performing natural history, biomarker, and outcome measures 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. Areas of current research include:
- Muscular dystrophies
- Neuropathies
- Kennedy's disease (Spinal and Bulbar Muscular Atrophy)
- Congenital muscular dystrophies
- Congenital myopathies
- Congenital myasthenic syndromes
- Genetic/Inherited myopathies
- Hereditary motor neuron disease
Program Structure
This fellowship has two prerequisite requirements: Pediatric or Adult Neurology and Neuromuscular training. This fellowship duration is one to two years. Fellows can explore various techniques in genomic medicine including whole genome sequencing, RNA sequencing and long-read sequencing. Fellows also have the opportunity to help conduct therapeutic clinical trials using pharmacological and biological approaches.