2021 Videos
Opening Remarks
Welcome Introductions and Opening Remarks
- Mary Leonard, MD MSCE, Stanford University
- Maria Grazia Roncarolo, MD, Stanford University
Keynote Presentation
22q11.2DS: Some Stops on a Journey
- Peter Scambler, MD, University College London
Session 1: Genetics
Human and mouse genetic approaches to identify modifiers of congenital heart disease in 22q11.2DS
- Bernice Morrow, PhD, Albert Einstein College of Medicine
NRXN1 Mutations: Deconstructing the Molecular Mechanisms of a Neurodevelopmental Disorder
- Thomas Sudhof, MD, Stanford University
Deep brain behavior phenotyping in genomic studies
- Raquel Gur, MD PhD, University of Pennsylvania
Session 2: Genomics
Getting to the Heart of Complex Disease
- Casey Gifford, PhD, Stanford University
Mapping and sequencing the 22q11.2 low copy repeat rearrangements
- Joris Vermeesch, PhD, KU Leuven
Investigating human cellular phenotypes associated with the 22q11.2 deletion
- Ralda Nehme, PhD, Broad Institute
Session 3: Development
Deconstructing thymus development to reconstruct immune education from human pluripotent stem cells
- Rene Maehr, PhD, University of Massachusetts Medical School
Exploring TBX1 function in the second heart field and cardiopharyngeal mesoderm
- Robert Kelly, PhD, AixMarseilles University
Tripping over multiple steps: How 22q11 deletion disrupts neural circuit development
- Anthony-Samuel Lamantia, PhD, VirginiaTech