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Mfon Umoh

Current Status: GRAD

Graduate Department: Neuroscience

Other Degrees: B.A.S Bioengineering, University of Pennsylvania;  

Advisor(s): Jonathan Glass, MD;

Hometown: Providence, RI; Port Harcourt-Nigeria

Hobbies

I like to read, work out/run, shop/find super amazing sales, and eat (tons of great restaurants here!). I also like to cook/bake, play basketball, attend dance classes and listen to live music.

Research

Autophagy and Neurodegeneration in C9ORF72-related ALS

My lab focuses on understanding the pathogenesis and progression of Amyotrophic lateral sclerosis (ALS). To do this we use post mortem tissue samples (brain and spinal cord) from patients with ALS, mouse models, and cell culture models(motor neurons and dorsal root ganglion cells). I am interested in the recently identified expansion mutation in the C9ORF72 gene, which is to date the most common genetic alteration identified in patients with familial ALS. I am interested in exploring the mechanisms underlying the pathogenicity of the C9ORF72 expansion, specifically I am interested in exploring the role of autophagy in disease pathogenesis. I use primary motor neuron cultures to explore the effect of the expansion mutation on autophagy, a cellular degradation pathway that has been implicated in ALS and other neurodegenerative diseases. In pathological workup of expansion carrier patient brains our lab and others found abundant p62 positive, pTDP-43 negative neuronal intra-nuclear inclusions in hippocampal and cerebellar regions of the brain and spinal cord. The C9ORF72 protein is not well characterized, but recent work showed that it shares full length secondary structure and primary sequence with a group of proteins that regulate membrane trafficking and it has been shown that knockdown of C9ORF72 leads to reduced endocytosis and dysregulated autophagy in neuroblastoma cells. Autophagy is a critical system in cells and its dysregulation has been linked to many neurodegenerative diseases. My project explores the role of autophagy in neurodegeneration mediated by C9ORF72 expansion. This work is fundamental to identifying therapeutic targets for patients with this devastating disease.

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