• Neurology

• Nerve & Muscle

The overall goal of my laboratory is to understand the molecular mechanisms of neuromuscular diseases using in vitro and animal modeling, based on insights from human genetics, to develop novel therapeutic agents. We are particularly interested in inherited neuropathy (Charcot-Marie-Tooth disease), and amyotrophic lateral sclerosis (ALS). The molecular pathways defined by genes mutated in hereditary neuromuscular diseases provide insight into molecular pathogenesis, and are potential candidates for therapeutic manipulation. To investigate mechanisms of motor neuron disease/ALS we are exploring the role of mutations in both the repeat expansion in the C9ORF72 gene, and point mutations in the TARDBP gene, using human induced pluripotent stem cell (iPSC)-derived motor neurons and mouse models. To investigate Charcot-Marie-Tooth disease we are studying (i) the mechanism of mutations in the Mitofusin 2 gene in axonal CMT, and (ii) the use of iPSC-derived Schwann cells from patients with CMT type 1A (the most common genetic form) to both model the disease in vitro, and for use in potential transplantation therapy in humans.Neurodegenerative and neuromuscular disorders, with an emphasis on (1) amyotrophic lateral sclerosis (ALS), commonly referred to as Lou Gehrig's disease, and (2) inherited neuropathy or Charcot-Marie-Tooth disease.

• Internship: Brigham and Women's Hospital, 2002
• Medical School: Washington University School of Medicine, 2005
• Residency: Brigham and Women's Hospital, 2005
• Fellowship: Washington University School of Medicine, 2006

• Charcot-Marie-Tooth / Hereditary Neuropathy Center
• Department of Neurology

• Derek Denny-Brown Neurological Scholar Award, American Neurological Association, 2016
• Prize for Research in Scientific Medicine, Cedars-Sinai, 2016
• Washington University Distinguished Investigator Award, 2011
• S. Weir Mitchell Award, American Academy of Neurology, 2007

Click here for a list of peer-reviewed publications.

• Zhou Y, Carmona S, Muhammad AKMG, Bell S, Landeros J, Vazquez M, Ho R, Franco A, Dorn II GW, Lu B, Wang S, Lutz CM, and Baloh RH. Restoring Mitofusin balance in the nervous system prevents axonal degeneration in a CMT2A mouse model. J Clin Invest. 2019 Mar 18;130. PMID: 30882371
• O’Rourke JG, Bogdanik L, Yáñez A, Lall D, Wolf AJ, Muhammad AK, Ho R, Carmona S, Vit JP, Zarrow J, Kim KJ, Bell S, Harms MB, Miller TM, Dangler CA, Underhill DM, Goodridge HS, Lutz CM, Baloh RH. C9orf72 is required for proper macrophage and microglial function in mice. Science. 2016 Mar 18;351(6279):1324-1329. PMID:26989253
• O’Rourke JG, Bogdanik L, Muhammad AKMG, Gendron TF, Kim KJ, Austin A, Cady J, Liu EY, Zarrow J, Grant S, Ho R, Bell S, Daughrity L, Carmona S, Simpkinson M, Wu K, Dickson DW, Harms MB, Petrucelli L, Lee EB, Lutz CM, Baloh RH. C9orf72 BAC transgenic mice display typical pathologic features of ALS/FTD. Neuron. 2015 Dec 2;88(5):892-901. PMID: 26637796
• Sareen D, Gire-O’Rourke J, Muhammad AK, Grant S, Simpkinson M, Bell S, Carmona S, Ornelas L, Sahabian A, Gendron T, Petrucelli L, Baughn M, Ravits J, Harms MB, Rigo F, Bennett CF, Svendsen CN, Baloh RH. Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion. Sci Transl Med. 2013 Oct 23;5(208):208ra149.

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