Neurodegenerative diseases of the peripheral nervous system

Dr. Baloh’s research focuses on the molecular mechanisms of hereditary motor and sensory neuropathies (also known as Charcot-Marie-Tooth disease). These diseases are characterized by progressive weakness and numbness usually starting in the feet, due to degeneration of the sensory and motor axons of the peripheral nervous system. These axons degenerate either secondary to a genetic defect in the Schwann cell (the supporting cells which myelinate peripheral axons) or from defects in the axons themselves. A better understanding of the mechanisms of these rare neurodegenerative diseases will hopefully lead to treatments for both these and other more common diseases, such as diabetic neuropathy.

A second major focus of Dr. Baloh’s research is developing improved diagnostic strategies for making exact genetic diagnoses in patients with neuromuscular diseases, particularly hereditary neuropathies and muscular dystrophies. This allows for improved patient care, a better understanding of genotype-phenotype correlation, and the identification of novel mutations/disease genes that will further advance our insight into neuromuscular disease pathogenesis and eventually lead to new treatment methodologies.