New Strategies to Discover Human Disease Genes

 LIVE Symposium

Tuesday, December 12, 2023
11:30 AM – 2:30 PM Eastern Time

Next generation sequencing-based diagnostics have helped identify the molecular causes of numerous inherited disorders. However, every individual’s 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 Scientist’s 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 Alzheimer’s 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 session
Deanna 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

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

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

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