Speaker: Jesus Lacal, professor of genetics at the University of Salamanca, Spain (principal investigator of the Group Biomedicine of Rare Diseases); Fulbright Visiting Scholar

Title: Functional characterization of rare diseases-associated variants

Abstract: The widespread adoption of next-generation sequencing has revolutionized the discovery of genetic variants associated with rare diseases. However, the sheer number of variants of uncertain significance (VUS) identified far outpaces our ability to interpret their biological impact. 

This talk will focus on the critical post-discovery phase, the functional characterization of these variants. We will discuss a systematic pipeline for moving beyond statistical association to demonstrate causality. This includes leveraging bioinformatics tools for initial prediction, employing functional genetics and to validate pathogenic mechanisms. 

By bridging the gap between genomic data and biological function, this research aims to provide definitive diagnoses for patients and uncover novel insights into disease pathology that can inform future therapeutic strategies.

Hosts: Clyde Campbell and Raquel Espin Palazon, genetics, development and cell biology assistant professors