M.D.C.M. (Doctor of Medicine, Master of Surgery)
Ph.D. (Doctor of Philosophy)
Research and teaching
- Multiple Sclerosis
- Spinal Cord / Nerve Injury & Pain
Dr. Pfeffer’s research program investigates genetic causes of hereditary neuromuscular disorders, principally adult-onset conditions including myopathy, neuropathy, and ALS. Our current studies apply next-generation sequencing to families with undiagnosed conditions and in carefully phenotyped clinical cohorts. Our lab also performs mechanistic studies using human cellular models to understand how gene mutations cause disease. A current area of particular interest is disorders with mixed phenotypes due to coexisting mutations in two or more Mendelian disease genes. In collaboration with colleagues from other subdisciplines of neurology, we are carrying out studies to identify RNA-based biomarkers for neurogenetic disorders.