Biology

Dr. Manish Jasiwal
Baylor College of Medicine, Houston, TX, USA

Neurons live and function throughout the life of an organism and face distinct challenges with respect to maintenance and protection against cellular insults. Elucidation of the molecular mechanisms of neuronal survival and maintenance will pave the way to a deeper understanding of numerous neurodegenerative diseases and treatment strategies. Therefore, I embarked on a systematic approach to understand mechanisms of neuronal maintenance and causes of neurodegeneration by bridging genetic studies in Drosophila with human Mendelian diseases. Through an unbiased genetic screen in Drosophila I have identified 165 genes that are
required for the development, function, and maintenance of the nervous system. We then, in collaboration with Baylor Hopkins Center for Mendelian Genomics, analyzed human homologs of these genes in human exomes from families with unsolved rare diseases. We identified disease - associated mutations in six families including the discovery of a novel disease linked gene ANKLE2. In parallel, our screen uncovered mutations in 32 genes that encode mitochondrial proteins. In my talk, I will discuss key findings of the genetic screen and elaborate on the molecular underpinnings that relate to neuronal demise due to mitochondrial impairments.