Genomic Medicine Meeting IX

Bedside to Bench - Mind the Gaps

On April 19-20, 2016, the National Human Genome Research Institute (NHGRI) sponsored its ninth Genomic Medicine meeting - Genomic Medicine IX: Bedside to Bench - Mind the Gaps - at the Sheraton Silver Spring Hotel in Silver Spring, Maryland.

GM9 focused on facilitating bedside back to bench research by focusing on one of the most vexing problems in clinical sequencing: characterizing and interpreting variants of uncertain significance (VUS).

Objectives included to:

Review examples of successful interactions between basic scientists and clinical genomicists and explore what made them successful;
Identify ways to enhance interactions between basic scientists and clinical genomicists (aka, the virtuous cycle of bench to bedside and back again);
Determine how better to integrate basic science research efforts with clinically important questions, to enhance the exploration of clinical implications of basic discoveries.

Topic areas covered:

How basic science lends insights into disease mechanisms to facilitate effective approaches for understanding the function of VUS and relevance to disease mechanisms.
Computational and informatics approaches to prediction and annotation of genomic variant function.
Efforts and strategies for data integration through the development and implementation of biomedical ontologies.
Facilitating bedside-back-to-bench research.

Tuesday, April 19, 2016

	Topic	Speaker
Session 1: Introduction, Background Dan Roden, Moderator
8:30 a.m.	Welcome, Introductions, and Goals of the Meeting Video (Manolio) \| Video (Bult) \| Video (Green) Video (Around the Room Introductions) \| Slides	Carol Bult Eric Green Teri Manolio
8:50 a.m.	Convincing Clinicians to Use Functionalized Genomic Information Video \| Slides	Howard Jacob
9:05 a.m.	Magnitude of the Problem - Basic Science Perspective on Need for Integration Video \| Slides	Monte Westerfield
9:30 a.m.	Magnitude of the Problem - Clinical Perspective on Need for Integration Video \| Slides	Gail Herman
9:55 a.m.	Discussion Video
10:40 a.m.	Break
Session 2: Vexing Clinical Problems Needing Basic Input Laura Rodriguez, Moderator
11:00 a.m.	Speeding Functional Assessment to Benefit Patients Video \| Slides	Stephen Kingsmore
11:20 a.m.	De Novo Variants that Inform Clinical Phenotypes Video \| Slides	Christine Seidman
11:40 a.m.	Discussion Video
12:25 p.m.	Lunch
Session 3: From Variant to Disease Mechanisms - Specific Examples of How Model Systems have used Genetic / Genomic Approaches to Lend Insight into Human Disease that had Clinical Relevance Howard Jacob, Moderator
1:30 p.m.	Integrating Model Organism Data around Clinical Genomics Video \| Slides	Calum MacRae
1:50 p.m.	Leveraging Congenital Heart Disease Mouse Model Findings to Improve Clinical Outcome Video \| Slides	Cecilia Lo
2:10 p.m.	Discussion Video
3:00 p.m.	Break
Session 4: Computational Approaches to Variant Function Prediction Methods for Predicting Functional Consequences of Variants Marc Williams, Moderator
3:20 p.m.	Leveraging Massive-Scale Databases of Human Genetic Variation Video \| Slides	Daniel MacArthur
3:40 p.m.	Empowering Variant Effect Prediction with Large Scale Mutagenesis Data Video \| Slides	Douglas Fowler
4:00 p.m.	Discussion Video
4:45 p.m.	Panel 1: Topics to be defined based on Day 1 sessions Teri Manolio, Moderator	Leslie Biesecker Gregory Cooper Cathleen Lutz Erin Ramos Liz Worthey
5:45 p.m.	First Day Summary and Discussion	Carol Bult Teri Manolio
6:00 p.m.	Adjourn

Wednesday, April 20, 2016

Time	Topic	Speaker
Session 5: Functionalizing VUS's Howard McLeod, Moderator
8:30 a.m.	Massively Parallel Functional Analysis of Missense Mutations In BRCA1 for Interpreting Variants of Uncertain Significance Video \| Slides	Lea Starita
8:50 a.m.	CRISPR-Cas9 Mediated Mouse Model Creation and Transcription Regulation Video \| Slides	Haoyi Wang
9:10 a.m.	Discussion Video
9:55 a.m.	Break
Session 6: Biomedical phenotype ontologies and data integration Carol Bult, Moderator
10:15 a.m.	Translating Human to Models and Back Again: Phenotype Ontologies for Data Integration and Discovery Video \| Slides	Melissa Haendel
10:35 a.m.	Data Integration: Genome X Transcriptome X EMR Video \| Slides	Nancy Cox
10:55 a.m.	Discussion Video
11:35 a.m.	Making Sausage Video \| Slides	Robert Nussbaum
12:00 p.m.	Working Lunch
1:00 p.m.	Panel 2: Topics to be defined based on Day 2 sessions Rex Chisholm, Moderator	Calum MacRae Jose Ordovas Peter Robinson Wendy Rubinstein Barbara Stranger
2:00 p.m.	Summary Discussion: Promoting Bedside-Back-to-Bench Research Prioritizing variants for functional/mechanistic investigation Incentivizing demonstrations of benignity Engaging industry Video \| Slides	Carol Bult Teri Manolio
3:30 p.m.	Next Steps Video	Carol Bult Teri Manolio
4:00 p.m.	Adjourn

Last updated: April 19, 2016