New Strategies to Discover Human Disease Genes – The Scientist

LIVE Symposium

Tuesday, December 12, 202311:30 AM - 2:30 PM Eastern Time

Next generation sequencing-based diagnostics have helped identify the molecular causes of numerous inherited disorders. However, every individuals genome contains at least four million differences from the reference genome, so scientists must use rigorous filtering methods to identify variants of concern and test these candidates consequences on gene function in appropriate models.

In this symposium brought to you by The Scientists Creative Services Team, researchers will highlight how they combine various model systems with state-of-the-art technologies to identify disease-causing genomic variants in coding and noncoding genomic regions.

Symposium program

11:30 AM Introduction

11:40 AM Functional characterization of Alzheimers disease genetic variants in microglia

Yun Li, PhD

12:15 PM Exome sequencing identifies novel breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

Jacques Simard, PhD

12:50 PM Monogenic inborn errors of immunity unravel the complexities of human immune responses

Ruben Martinez Barricarte, PhD

1:25 PM Multigene panel test for the diagnosis of bleeding, thrombotic and platelet disorders

Kathleen Freson, PhD

2:00 PM - Open panel Q&A sessionDeanna MacNeil from The Scientist's Creative Services Team will be joined by the entire panel in an open question and answer session where presenters will address questions posed by the audience.

Yun Li, PhD Professor, Genetics and Biostatistics Director, Data Science Core, Intellectual and Developmental Disabilities Research Center University of North Carolina at Chapel Hill

Jacques Simard, PhD Vice-Dean Research and Innovation Department of Molecular Medicine Faculty of Medicine, Laval University Genomics Center, Laval University Research Center (Quebec CHU)

Ruben Martinez Barricarte, PhD Assistant Professor Vanderbilt University Medical Center Division of Genetic Medicine, Department of Medicine Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology Vanderbilt Center for Immunobiology Vanderbilt Institute for Infection, Immunology and Inflammation Vanderbilt Genetic Institute Vanderbilt-Ingram Cancer Center

Kathleen Freson, PhD Professor, Cardiovascular Sciences Head of the Center for Molecular and Vascular Biology KU Leuven

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New Strategies to Discover Human Disease Genes - The Scientist