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Vincenzo A. Gennarino, Ph.D.

Vincenzo A. Gennarino, Ph.D.

A New Way of Thinking about Neurological Disorders: Protein Dosage and RNA-Binding Proteins


February 23, 2017, 1:00 p.m.


Vincenzo A. Gennarino, Ph.D.

Postdoctoral Associate, Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine


Fralin Biomedical Research Institute, R1059
2 Riverside Circle, Roanoke, VA 24016

Neurodegeneration researchers have only recently begun to appreciate that overabundant wild-type proteins can cause disease, in addition to the traditionally studied aggregating proteins. While the importance of gene dosage is well established, the idea that even relatively subtle alterations in protein levels could affect neurological function and contribute to neurodegenerative and neurodevelopmental conditions is much less accepted. A research program that explicitly examines the post-transcriptional regulation of protein levels, such as was done in Dr. Gennarino’s work on PUM1 and Spinocerebellar ataxia type 1, should go some way toward changing attitudes in the field. For example, Dr. Gennarino identified 11 individuals with copy-number variants (CNVs) spanning NUDT21. They all had symptoms reminiscent of Rett syndrome, caused by defects in MeCP2. Indeed, the phenotype of these NUDT21 patients is partially explained by misregulation of MeCP2 protein. Dr. Gennarino’s work identified a new neurodevelopmental syndrome, and possibly helped explain the 5 percent of Rett patients without an identifiable MECP2 mutation.

If the 1990s were the great decade for identifying genes underlying neurological disease, Dr. Gennarino predicts that we are entering an era when factors regulating neuronal protein levels will come to the forefront. The number and variety of dysfunctions that can afflict the brain and mind are staggering, and there is currently little to offer patients who suffer from them. Studying RNA homeostasis within the nervous system is important for unveiling new regulatory mechanisms of specific disease-driving genes and for identifying new disease genes. In his chalk talk, Dr. Gennarino will describe two projects and their ramifications: (1) understanding the role of Pum1 in mRNA metabolism, neurodevelopment, and neurodegenerative disease; (2) determining the role of the CFIm protein complex in developmental and neuropsychiatric disorders.

Additional Details

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