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, PhD |
 | Jacques Simard, PhD |
 | Ruben Martinez Barricarte, PhD |
 | Kathleen Freson, PhD |