SEMINAR:Multi-omic Approaches to Nervous System Disorders

Guest: Kaya Bilgüvar, Acibadem University

Title: Multi-omic Approaches to Nervous System Disorders (BIO)

Date/Time: December 11, 2024, 13:40

Location: FENS G035

Abstract: The traditional medical approach has been to categorize human disorders into common and rare forms. However, recent knowledge, fueled mainly by advances in high-throughput omics applications, demonstrated that the actual separation is determined by the rarity or commonality - that is the population allele frequency - of the genetic variants underlying susceptibility to or causality of the disease occurrence. As such, we have been investigating the genetic variants causing vascular, developmental, degenerative, and oncological diseases of the nervous system over the last two decades. In this talk, I will be mentioning our approach to gene identification followed by functional characterization of such variants utilizing multi-omics applications, model organisms, and more recently, patient derived in vitro and ex vivo 2- and 3 dimensional cellular systems.

Bio: Dr. Kaya Bilguvar has been working in the field of human genetics for over 20 years. In the summer of 2021, he returned to Turkey and started working at Acibadem Mehmet Ali Aydinlar University School of Medicine, Department of Medical Genetics, along with Health Sciences Institute, Departments of Genome Studies and Translational Medicine, and ACURARE. In addition, he holds an adjunct professor position at Yale University School of Medicine, Departments of Neurosurgery and Genetics where he has been conducting research studies since 2005. His major research interests include the identification of genetic bases of human diseases affecting the structure and function of the nervous system, and elucidation of underlying disrupted biological processes using patient-derived 2D and 3D induced neuronal systems. His latest efforts are concentrated on the studies of cortical malformations, schizophrenia, early-onset neurodegenerative syndromes and migraine. From 2013 to 2021, he also served, first as associate director then as the director of the Yale Center for Genome Analysis where he contributed to many large-scale human genetics efforts along with the development of diagnostic applications utilizing next-generation omics technologies.