The University of Virginia was awarded a $654,844 Project Grant from the National Institute of Neurological Disorders and Stroke (NINDS) under the Extramural Research Programs in the Neurosciences and Neurological Disorders (CFDA 93.853) federal grant program. The grant supports research to determine the causality and pathophysiological significance of novel human SEL1L and SYVN1 gene variants, and to delineate the molecular mechanisms underlying the pathogenicity associated with these variants. The research aims to advance understanding of the importance of the SEL1L-HRD1 endoplasmic reticulum-associated protein degradation (ERAD) pathway in human health and disease. This work, conducted from February 2025 through December 2029, represents the first attempt to identify and establish disease-causing mutations of SEL1L-HRD1 ERAD in humans.
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