On this week’s The Sci-Files, your hosts Chelsie and Danny interview Alex J. Roy. Alex is a dual-enrolled BS/MS student in Lyman Briggs and the Department of Microbiology & Molecular Genetics. He works in the Neubig Lab in the Department of Pharmacology & Toxicology.
Alex studies the mechanisms of an ultra-rare genetic disorder called GNAO1 Encephalopathy. Patients, of which there about 200 known, begin showing combinations of developmental delay, movement disorders, and epilepsy in early childhood. They have mutations in the gene GNAO1, which codes for a subunit of the G-protein Go. It is the most expressed membrane protein in the central nervous system.
The problem is that Go is barely understood compared to other G-proteins like Gs and Gi. At the same time, it is known to affect neurotransmission in many ways: development, excitability, and neurotransmitter release. Thus, untangling why certain patient mutations lead only to movement disorders or epilepsy while others cause both is very difficult.
The Neubig lab has pioneered the development of mouse models of GNAO1 disorders, invaluable tools for solving this puzzle. Alex is probing their neuroanatomy to look for defects that might help explain– or even suggest a cure for–  these burdensome disorders.
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