2024 Variant to Function Symposium

Tuesday, March 19, 2024
9:00 am - 7:00 pm
Merkin Lobby and Auditorium

Large-scale human genetic studies have succeeded in identifying hundreds of thousands of variants associated with human diseases and traits. One of the grand challenges on the frontier of human genomics and health is to pioneer new scalable paradigms and technologies to systematically link these many variants to cellular programs and gene regulation networks driving complex disorders. This will enable a deep understanding of the genetically-anchored biological programs affected in diseases, lay the foundation for a new generation of rationally designed medicines, and benefit patients and societies across the globe. The Novo Nordisk Foundation Center for Genomic Mechanisms of Disease is thrilled to host a symposium highlighting some of the important work and progress ongoing across the vibrant Broad Institute community in this domain. Please join us for an exciting day of science and discussions around this topic.

Co-chaired by Melina Claussnitzer and Kasper Lage

Agenda
8:30 - 9:00am	Registration	Merkin Lobby
9:00am - 9:15am	Welcome Remarks Kasper Lage, Ph.D., M.B.A. Managing Director of the Novo Nordisk Foundation Center at the Broad Institute	Broad Auditorium

9:15am - 9:45am	Keynote: The future of human genetics Eric Lander, PhD, Founding Director, Core Institute Member	Broad Auditorium
9:45am - 10:45am	Session 1: Technology Development Session Chair: Fei Chen	Broad Auditorium
9:45am - 10:15am	Human brain chimeroids as avatars to study interindividual variation in response to disease risk Paola Arlotta, PhD, Institute member, Departmental Chair and Golub Family Professor of Stem Cell and Regenerative Biology at Harvard University	Broad Auditorium
10:15am - 10:45am	Decoding Cell Fates through Single Cell Genomics, Imaging, and Machine Learning Jian Shu, PhD, Assistant Professor at MGH and Harvard Medical School, Associate Member Broad Institute of MIT and Harvard	Broad Auditorium
10:45am - 11:00am	Break	Merkin Lobby
11:00 am - 12:00 pm	Session 2: Gene Regulation Session Chair: Bo Xia	Broad Auditorium
11:00am - 11:30am	Epigenomics and the regulatory controls of disease Jason Buenrostro, PhD, Assistant Professor at MGH and Harvard Medical School, Associate Member Broad Institute of MIT and Harvard	Broad Auditorium
11:30am - 12:00pm	Linking structure to function in metabolic and blood disorders using Region Capture Micro-C Viraat Goel, PhD Student, Biological Engineering at MIT, lab of Anders Sejr Hansen	Broad Auditorium
12:00pm - 1:00pm	Lunch	Merkin Lobby
1:00pm - 2:00pm	Session 3: From Disease Variants to Cell Function and Cellular Programs Session Chair: Ben Neale	Broad Auditorium
1:00pm - 1:30pm	Variant-to-Function in Obesity Research: Challenges and Opportunities Tune Pers, PhD, Novo Nordisk Foundation Center for Basic Metabolic Research Scientist, Associate Professor at the University of Copenhagen	Broad Auditorium
1:30pm - 2:00pm	Linking genetic variation to actionable therapeutic targets and cellular signatures for cardiometabolic disease Melina Claussnitzer, PhD, Institute Member, Associate Director of Scientific Strategy for the Novo Nordisk Foundation Center, Associate Professor at MGH and Harvard Medical School	Broad Auditorium
2:00pm - 2:15pm	Afternoon Coffee Break	Merkin Lobby
2:15pm - 2:45pm	Defining disease variant function with single cell multimodal sequencing and gene editing Soumya Raychaudhuri, MD, PhD, Institute Member, Director for the Center for Data Sciences at Brigham and Women’s Hospital and Harvard Medical School	Broad Auditorium
2:45pm - 3:15pm	Neuronal modeling and therapeutic profiling of alterations to genome structure and function Michael Talkowski, PhD, Institute Member, Broad Institute; Director, Center for Genomic Medicine, MGH	Broad Auditorium
3:15pm - 4:15pm	Break Live stream concludes at 3:15pm	Merkin Lobby

4:15pm - 5:00pm	Rapid Fire Presentations Session Chair: Annika Weimer	Broad Auditorium
5:00pm - 7:00pm	Poster Session and Reception	Merkin Lobby