Last updated: April 19, 2016
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.
- Meeting Agenda
- Background Information Packet
- Final Meeting Summary
- Executive Summary
- Tweets from the Meeting: #GenomicMed9
Tuesday, April 19, 2016
|Session 1: Introduction, Background
Dan Roden, Moderator
|8:30 a.m.||Carol Bult
|8:50 a.m.||Howard Jacob|
|9:05 a.m.||Monte Westerfield|
|9:30 a.m.||Gail Herman|
|Session 2: Vexing Clinical Problems Needing Basic Input
Laura Rodriguez, Moderator
|11:00 a.m.||Stephen Kingsmore|
|11:20 a.m.||Christine Seidman|
|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.||Calum MacRae|
|1:50 p.m.||Cecilia Lo|
|Session 4: Computational Approaches to Variant Function Prediction Methods for
Predicting Functional Consequences of Variants
Marc Williams, Moderator
|3:20 p.m.||Daniel MacArthur|
|4:45 p.m.||Panel 1: Topics to be defined based on Day 1 sessions
Teri Manolio, Moderator
|5:45 p.m.||First Day Summary and Discussion||Carol Bult
Wednesday, April 20, 2016
|Session 5: Functionalizing VUS's
Howard McLeod, Moderator
|8:30 a.m.||Lea Starita|
|8:50 a.m.||Haoyi Wang|
|Session 6: Biomedical phenotype ontologies and data integration
Carol Bult, Moderator
|10:15 a.m.||Melissa Haendel|
|10:35 a.m.||Nancy Cox|
|11:35 a.m.||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
|2:00 p.m.||Summary Discussion: Promoting Bedside-Back-to-Bench Research
|3:30 p.m.||Next Steps