Hospitality Desk

Breakfast

AGBT Women’s Networking Breakfast (RSVP Required)
Join us for the inaugural Women’s Networking Event at Precision Health – an empowering breakfast gathering dedicated to celebrating and connecting women in science and precision health. This event offers a welcoming space for conversation, mentorship, and shared experiences.  

New Perspectives in Precision Health

​This session explores the role of environment, nutrition, and early-life exposures in shaping precision health strategies.

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Session Co-Chairs:

Stephen Montgomery, Stanford University 

Gail Jarvik, University of Washington

Neil Hanchard, Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health 

Advancing Precision Health in the Pediatric Complex Disease Space ​

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Meghan Azad, Pediatrics and Child Health, University of Manitoba

Human Milk for Precision Health

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Leanne Redman, Louisiana State University

Can we Personalize Nutrition? The Who, What, Where and When of the NIH Nutrition for Precision Health Research Consortium 

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Craig Smail, Children's Mercy Hospital (Abstract Selected Talk) 
Mapping Parent of Origin Methylation by Long-Read Sequencing Reveals Novel Imprinting and Insight into Pediatric Disease 

Shira Rockowitz, Boston Children's Hospital (Abstract Selected Talk) 
Diagnostic Benefits of Oxford Nanopore Long-Read Sequencing for Short-Read Negative CRDC Rare Disease Cases

Rebecca Reimers, Rady Children’s Institute for Genomic Medicine (Abstract Selected Talk) 
BeginNGS: Innovating on interpretation, enrollment, and results return in an ongoing single arm prospective newborn sequencing by genome sequencing trial 

Coffee Break

Transformative Advances in Rare Disease Genomics

This session highlights recent breakthroughs in identifying, characterizing, and treating rare genetic diseases, including insights from clinical trials, functional genomics, and emerging therapies. 

Session Co-Chairs:  

Heidi Rehm, Harvard, Broad Institute 

Wendy Chung, Boston Children’s Hospital 

Heidi Rehm, Harvard, Broad Institute

Global Strategies to Solve Rare Disease

Patricia Dickson, Washington University School of Medicine and Inez Oh, PhD, Senior Scientist, Institute for Informatics, Data Science, and Biostatistics, Washington University School of Medicine

Computational and AI Approaches to Clinical Trial Data Harmonization for Rare Disease    

Jonathan Sebat, UCSD 

Linking genotype to phenotype in rare disease requires integrative analysis of pathway, cell-type and spatial gene expression  

AGBT Lunch & Workshop

Multiomics Analysis Approaches and Harmonization with Publicly Available Data for Precision Health 

Speakers:  

Jon LoTempio, University of California, Irvine 

Danny Miller, University of Washington 

Anne-O'Donnell-Luria, The Broad Institute 

Malene Lindholm, Stanford University 

David Amar, Tel Aviv University 

Moderators:  

Matthew Wheeler, Stanford University and Vijay Ganesh, Broad Institute  

Workshop Description:   

The workshop will highlight data and approaches to facilitate multiomic analysis through initiatives including GREGoR Consortium and MoTrPAC that leverage multiomic data. Included will be discussion of harmonization across datasets, analysis approaches for outlier and integrative discovery, and ongoing challenges.

Variants to Function and Precision Medicines in Rare Disease 

Discover the latest work translating genetic variants into actionable insights and precision therapies for rare diseases, spanning functional studies, target discovery, and individualized treatment. 

Session Co-Chairs:

Penelope Bonnen, Baylor College of Medicine

Len Pennacchio, Lawrence Berkeley National Labs

Stephen Montgomery, Stanford University

Multiomics Strategies for Diagnosis of Rare Diseases 

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Heather Mefford, St. Jude Children's Research Hospital 

Precision diagnosis to targeted therapy in pediatric epilepsies

Tim Yu, Boston Children's Hospital and Harvard Medical School

Towards Interventional Genetics 

Jacob Kitzman, University of Michigan (Abstract Selected Talk) 

Systematic resolution of clinical variants in hereditary cancer syndromes using pathway-scale functional assays 

Johnny Yu, Tahoe Therapeutics (Abstract Selected Talk) 

Tahoe-100M: A Giga-Scale Single-Cell Perturbation Atlas for Context-Dependent Gene Function and Cellular Modeling 

Closing Reflections 

Meeting Co-Chairs:  

Wendy Chung, Boston Children’s Hospital 

Eric Green, Former Director of NHGRI 

Mike Talkowski, Broad Institute of MIT and Harvard 

Sips & Science: A Sunset Cruise with AGBT & GREGoR, Sponsored by Nabsys
A unique, crossover networking event bringing together attendees from both AGBT PH and the GREGoR Consortium for an evening of relaxed yet meaningful connection across institutions and specialties. This 3-hour private yacht cruise includes dinner, drinks, and coastal sunset views while allowing attendees to reflect on the shared mission of advancing precision health and rare disease research.  

RSVP Required, space is limited.

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