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.

Medical Training

Robert Baloh, MD, PhD received his Sc.B. with honors in Neuroscience from Brown University in 1995, and his MD/PhD from Washington University in 2001. His PhD thesis in the Neuroscience program focused on molecular characterization of GDNF family neurotrophic factors for their potential utility in treating neurodegenerative diseases. He then did his medical internship at Brigham and Women's Hospital in Boston, and his neurology residency at the Massachusetts General Hospital/Brigham and Women's Hospital combined neurology program, where he served as Chief Resident in his final year. He completed a fellowship in neuromuscular diseases at Washington University in 2006, and is focusing on both clinical and basic science research on inherited diseases of the neuromuscular system.

Selected Publications

Baloh RH, Schmidt RE, Pestronk A, Milbrandt J (2007). Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J Neurosci 27, 422-430.

Baloh RH, Salavaggione E, Milbrandt J, Pestronk A (2007) Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol. Jul;64(7):998-1000

Baloh RH, Rakowicz W, Gardner R, Pestronk A (2007) Frequent atrophic groups with mixed-type myofibers is distinctive to motor neuron syndromes. Muscle Nerve. Jul;36(1):107-10.

Wang X, Baloh RH, Milbrandt J, Garcia KC (2006). Structure of artemin complexed with its receptor GFRalpha3: convergent recognition of glial cell line-derived neurotrophic factors. Structure 14, 1083-92.

Jen J, Baloh RH, Ishiyama A, Baloh RW. (2005) Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene. J Neurol Sci. 2005 Oct 15;237(1-2):21-4.

Enomoto H, Hughes I, Golden J, Baloh RH, Yonemura S, Heuckeroth RO, Johnson EM Jr, Milbrandt J.(2005). GFRalpha1 expression in cells lacking RET is dispensable for organogenesis and nerve regeneration. Neuron. 44(4):623-36.

Baloh RH, Kim G, Jen J, Baloh RW. (2004). Chronic cough due to Thr124Met mutation in peripheral myelin protein zero (MPZ) gene. Neurology, 62(10), 1905-6

Baloh RH, Enomoto H, Johnson EM Jr, and Milbrandt J. (2000). The GDNF family ligands and receptors - implications for neural development. Curr. Opin Neurobiol. 10, 103-110

Baloh RH, Tansey MG, Johnson EM Jr., and Milbrandt J. (2000). Functional mapping of receptor specificity domains of glial cell line-derived neurotrophic factor (GDNF) family ligands and production of GFRa1/RET-specific agonists. J. Biol. Chem. 275, 3412-3420.

Baloh RH, Tansey MG, Lampe PA, Fahrner TJ, Enomoto H, Simburger K, Leitner ML, Araki T, Johnson EM Jr, and Milbrandt J. (1998). Artemin, a novel member of the GDNF ligand family supports peripheral and central neurons and signals through the GFRa3-RET receptor complex. Neuron 21, 1291-1302.