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