About the Speaker
Juan Botas, PhD
Professor, Molecular and Human Genetics
Professor, Molecular & Cellular Biology
Baylor College of Medicine
Over the past several decades, many genes triggering neurological diseases have been identified. Some of these diseases are caused by gain of function mutations and/or impaired proteolysis of the respective proteins. Among these proteins are huntingtin (Huntington disease, HD), alpha-synuclein (Parkinson's disease, PD) and the tau and amyloid precursor proteins (in Alzheimer's disease, AD). On the other hand, diseases like Rett Syndrome are caused by loss of function mechanisms. Despite many significant advances, we still have a poor understanding of what happens between the triggering of the disease by the faulty protein and the ultimate death of the neuron. What are the molecular mechanisms and gene networks driving pathogenesis? What mechanisms are deployed by neuron and glia to compensate CNS dysfunction? Can we identify therapeutic targets common to more than one disease?
To address these questions, Dr. Botas integrates computational and wet-lab approaches using a combination of experimental model systems including Drosophila (fruit fly) and mice, as well as neuronal primary cultures and iPSC-derived human neurons. He has generated Drosophila models for many neurological and neuromuscular disorders that recapitulate key neuropathological phenotypes observed in patients. Drosophila models for the neurodegenerative diseases spinocerebellar ataxia type 1 (SCA1), Huntington’s, Parkinson’s, and Alzheimer’s show late onset, progressive neuronal degeneration and disease-specific neuropathology. He uses these Drosophila models as a discovery tool: together with state-of-the-art robotic instrumentation, they allow him to carry out high-throughput, genome-wide genetic screens to identify genetic modifiers and therapeutic targets.
