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This meeting took place in 2020



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Beyond a Million Genomes: From Discovery to Precision Health (A4)


Organizer(s) Alan R. Shuldiner, Dan M. Roden and Elaine R. Mardis
January 21—25, 2020
Beaver Run Resort • Breckenridge, CO USA
Discounted Abstract Deadline: Oct 10, 2019
Abstract Deadline: Oct 22, 2019
Scholarship Deadline: Oct 10, 2019
Discounted Registration Deadline: Nov 21, 2019

Sponsored by Editas Medicine and Novo Nordisk A/S

Summary of Meeting:
With advances and decreasing costs of high-throughput genotyping and DNA sequencing technologies, we now know more about the human genome than that of any other species. Sequence variation, both common and rare, contribute to great inter-individual phenotypic variation within it. A deeper understanding of the genetic basis of human health and disease has provided insights into biology and huge opportunities for the development and implementation of more targeted therapies and preventive strategies, which is the goal of precision health. This Keystone Symposium will focus on rapidly advancing and emerging areas of precision health with each session emphasizing the path from discovery to clinical implementation. The Symposium will begin with the state of our current knowledge of the allelic architecture of human disease and how these understandings are being translated into clinical practice. Sessions will cover discovery and translational advances from Mendelian diseases and rare human gene knock-outs to common multifactorial diseases in large genomic databases linked to electronic health record data, and the challenges and opportunities of big data analysis and integration. Other topics will include translating cancer genomics to clinical practice, workshops on clinical interpretation of germline and somatic mutations, pharmacogenomics, and the role of human genomics for novel therapeutic development. Finally, a session will look beyond human sequence variation to consider the role of epigenomics, the microbiome, and environment and lifestyle in precision health. While broad-based, a unifying theme of this Symposium is to bridge basic human genomic discovery to clinical implementation with the intention of attracting and engaging a multidisciplinary audience for thoughtful and open discussion to impact Precision Health.

View Scholarships/Awards
No registration fees are used to fund entertainment or alcohol at this conference

Conference Program    Print  |   View meeting in 12 hr (am/pm) time


The meeting will begin on Tuesday, January 21 with registration from 16:00 to 20:00 and a welcome mixer from 18:00 to 20:00. Conference events conclude on Saturday, January 25 with a closing plenary session from 17:00 to 19:00, followed by a social hour. We recommend return travel on Sunday, January 26 in order to fully experience the meeting.

TUESDAY, JANUARY 21

16:00—20:00
Arrival and Registration

Colorado Ballroom Foyer
18:00—20:00
Welcome Mixer
No registration fees are used to fund alcohol served at this function.

Colorado Ballroom Foyer

WEDNESDAY, JANUARY 22

07:00—08:00
Breakfast

Summit Gallery
08:00—09:00
Welcome and Keynote Address

Peaks 4 & 5
* Alan R. Shuldiner, Regeneron Pharmaceuticals, Inc, USA

Peter Donnelly, University of Oxford and Genomics plc, UK
Using Genomics to Understand an Individual's Risk for Common Diseases

09:00—11:30
Undiagnosed and Underdiagnosed Mendelian Diseases

Peaks 4 & 5
* Eimear E. Kenny, Icahn School of Medicine at Mount Sinai, USA

Wendy K. Chung, Columbia University, USA
Horses Morphing into Zebras: Hundreds of Rare Monogenic Diseases Masquerading As Common Diseases

Coffee Break

Lisa Bastarache, Vanderbilt University Medical Center, USA
EHR Phenomics and Undiagnosed Mendelian Diseases

Kevin A. Strauss, Clinic for Special Children, USA
Plain People and Precision Medicine

Bryce A. Schuler, Vanderbilt University Medical Center, USA
Short Talk: Identifying Undiagnosed Alpha-1 Antitrypsin Deficiency and Environmental Disease Modifiers via Phenotype Risk Score

Margot A. Cousin, Mayo Clinic, USA
Short Talk: Patient-Specific Antisense Oligonucleotide Therapeutic Development for a Girl with Mucolipidosis

11:30—17:00
On Own for Lunch

11:30—13:00
Poster Setup

Peaks 1-3
13:00—22:00
Poster Viewing

Peaks 1-3
14:30—16:30
Career Roundtable
Interested participants must sign up at the registration desk on a first-come, first-serve basis. Maximum attendance: 60.

Peaks 6-8
Dan M. Roden, Vanderbilt University Medical Center, USA

Elaine R. Mardis, Nationwide Children's Hospital, USA

Kevin A. Strauss, Clinic for Special Children, USA

Olga Kamneva, Roche Sequencing Solutions, USA

Paola Giusti-RodrĂ­guez, University of North Carolina at Chapel Hill, USA

Ben Johnson, Nature Research, UK

Aaron Pawlyk, Eunice Kennedy Shriver National Institute of Child Health and Human Development, USA

16:30—17:00
Coffee Available

Colorado Ballroom Foyer
17:00—19:00
Genetic Variation to Mechanisms of Human Disease

Peaks 4 & 5
* Wendy K. Chung, Columbia University, USA

Eimear E. Kenny, Icahn School of Medicine at Mount Sinai, USA
Using Cryptic Relatedness for Gene Discovery

Douglas M. Fowler, University of Washington, USA
Multiplex Experimental Approaches to Understanding Genetic Variation

Monkol Lek, Yale School of Medicine, USA
Genetic Diagnosis to Custom Genetic Therapy

Andrew M. Glazer, Vanderbilt University Medical Center, USA
Short Talk: High-Throughput Functional Studies of SCN5A Variants

Amrita Basu, University of California, San Francisco, USA
Short Talk: Discovering Biomarkers of Extreme Resistance in High-Risk Breast Cancer

19:00—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Peaks 1-3
19:30—22:00
Poster Session 1

Peaks 1-3

THURSDAY, JANUARY 23

07:00—08:00
Breakfast

Summit Gallery
08:00—11:00
Genome and EHR-Derived Phenomes in Large Patient Populations: Discovery and Implementation of Precision Health

Peaks 4 & 5
* Dan M. Roden, Vanderbilt University Medical Center, USA

Kathleen Barnes, University of Colorado Denver, USA
Implementing Personalized Medicine in the Academic Medical Setting: The Colorado Center for Personalized Medicine Experience

Stephanie Devaney, National Institutes of Health, USA
All of Us

Coffee Break

Lili Milani, University of Tartu, Estonia
Personalized Medicine Based on Common and Rare Genetic Variants in Estonia

David H. Ledbetter, Geisinger Health, USA
Geisinger's Genomics and Precision Health Imperative

Manuel A. Rivas, Stanford University, USA
Short Talk: Global Meta-Analysis of UK Biobank, Million Veterans Program, and Biobank Japan

Todd Edwards, Vanderbilt University Medical Center, USA
Short Talk: Leveraging T2D GWAS with 1.3M Subjects and Large EHR Resources to Identify and Evaluate Drugs for Repurposing

11:00—17:00
On Own for Lunch

11:00—13:00
Poster Setup

Peaks 1-3
13:00—22:00
Poster Viewing

Peaks 1-3
14:30—16:30
Panel: Equity in Health and Healthcare: Considerations of Race/Ethnicity in Precision Medicine
This workshop will include discussions on the current and historical implementation of precision medicine (pharmacogenomics, genomics, and environmental/behavioral factors), ethical and policy considerations in utilizing race/ethnicity in clinical care, future direction in precision medicine. The outcome from this workshop is expected to be the development of recommendations and a vision of how precision medicine can be implemented in diverse populations. This workshop is supported in part by the Burroughs Wellcome Fund.

Peaks 4 & 5
* Nishadi Rajapakse, National Institutes of Health, USA

Stephanie Devaney, National Institutes of Health, USA

Michael P. Snyder, Stanford University School of Medicine, USA

Melinda C. Aldrich, Vanderbilt University Medical Center, USA

Digna R. Velez Edwards, Vanderbilt University Medical Center, USA

16:30—17:00
Coffee Available

Colorado Ballroom Foyer
17:00—19:00
Challenges of Big Data Integration in Genomics and Precision Medicine

Peaks 4 & 5
* Philip F. Smith, NIDDK, National Institutes of Health, USA

David Glazer, Verily Life Sciences, USA
Talk Title to be Announced

Garry P. Nolan, Stanford University, USA
Pathology from the Molecular Scale on Up

Josh Bonkowsky, University of Utah, USA
Short Talk: Pediatric Personalized Population Health: Integrating Genomic Testing and Data with Longitudinal Pediatric Clinical Outcomes and Treatments in a Free-Standing Children’s Hospital

Alex Forrest-Hay, Metabolon Inc., USA
Short Talk: Use of Untargeted Metabolomics to Categorize Disease Risk in Human Health Studies Accelerates Precision Medicine and Drug Development

19:00—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Peaks 1-3
19:30—22:00
Poster Session 2

Peaks 1-3

FRIDAY, JANUARY 24

07:00—08:00
Breakfast

Summit Gallery
08:00—11:00
Translating Cancer Genomics to Clinical Practice

Peaks 4 & 5
* Martin G. Reese, Fabric Genomics, USA

Elaine R. Mardis, Nationwide Children's Hospital, USA
Integrating Genomics into Precision Cancer Medicine

Dejan Juric, Massachusetts General Hospital, USA
Talk Title to be Announced

Coffee Break

Katherine Janeway, Dana-Farber Cancer Institute, USA
Defining the Clinical Impact of Bringing Genomics to the Pediatric Oncology Clinic

Gerald P. Linette, University of Pennsylvania, USA
Personalized Cancer Vaccines

Xiaoyan Jia, University of Michigan, USA
Short Talk: Comprehensive Functional Classification of Lynch Syndrome Missense Variants

11:00—17:00
On Own for Lunch

11:00—13:00
Poster Setup

Peaks 1-3
13:00—22:00
Poster Viewing

Peaks 1-3
16:30—17:00
Coffee Available

Colorado Ballroom Foyer
17:00—18:15
Round Table Discussion: Academia - Industry Collaboration to Enable Genomic Discovery and Implementation of Precision Medicine

Peaks 4 & 5
* Alan R. Shuldiner, Regeneron Pharmaceuticals, Inc, USA

Martin G. Reese, Fabric Genomics, USA

Pakito Martinez, Metabolon, USA

Patrick Kleyn, Rhythm Pharmaceuticals, USA

18:15—19:00
Keynote Address

Peaks 4 & 5
* Elaine R. Mardis, Nationwide Children's Hospital, USA

Michael P. Snyder, Stanford University School of Medicine, USA
Big Data and Health

19:00—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Peaks 1-3
19:30—22:00
Poster Session 3

Peaks 1-3

SATURDAY, JANUARY 25

07:00—08:00
Breakfast

Summit Gallery
08:00—11:00
Pharmacogenomics: Beyond Single Large Effect Size Variants and Implementation

Peaks 4 & 5
* Aaron Pawlyk, Eunice Kennedy Shriver National Institute of Child Health and Human Development, USA

Dan M. Roden, Vanderbilt University Medical Center, USA
Challenges and Opportunities in Implementing Pharmacogenomics

Wasun Chantratita, Mahidol University, Thailand
National Program to Eradicate Stevens Johnson Syndrome from Thailand to Asian Countries

Coffee Break

Esteban E. Burchard, University of California, San Francisco, USA
Making Precision Medicine Socially Precise

Katelyn Neely, Vanderbilt University, USA
Short Talk: CYP2C19 Phenotype and Adverse Events During Sertraline Treatment in Children and Adolescents

11:00—17:00
On Own for Lunch

15:00—16:30
Workshop

Peaks 4 & 5
* Katelyn Neely, Vanderbilt University, USA

Andrew R. Marderstein, Weill Cornell Medicine, USA
Leveraging Phenotypic Variability to Identify Genetic Interactions and Improve Prediction of Complex Traits

Angela Mo, Georgia Institute of Technology, USA
African Ancestry Proportion Influences Ileal Gene Expression in Inflammatory Bowel Disease

Arbel Harpak, Columbia University, USA
Variable Prediction Accuracy of Polygenic Scores within an Ancestry Group

Jacob M. Keaton, Vanderbilt University Medical Center, USA
Phenome-Wide Association Study of Biogeographic Ancestries Builds an Atlas of Racial Health Disparities

Ayesha Muhammad, Vanderbilt University, USA
A High-Throughput Cell-Surface Trafficking Assay of KCNE1 Can Identify Functionally Deleterious Variants

Megan Lynch, University of Maryland, Baltimore, USA
Assessing the Burden of Pathogenic Variants in ACMG Clinically Actionable Genes in the Amish

16:30—17:00
Coffee Available

Colorado Ballroom Foyer
17:00—18:45
Beyond Human Sequence Variation

Peaks 4 & 5
* Christa L. Martin, Geisinger Health, USA

Beth Drolet, University of Wisconsin, USA
Organ With A View; Birthmarks as a Model of Mosaicism

Alan R. Shuldiner, Regeneron Pharmaceuticals, Inc, USA
Beyond Identification of Human Sequence Variation: Genome-Informed Therapeutic Development and the Implementation of Population Precision Health

Digna R. Velez Edwards, Vanderbilt University Medical Center, USA
Short Talk: Association of Genetically-Predicted Placental Gene Expression with Adult Obesity and Blood Pressure Traits

Wen Gu, University of Texas Southwestern Medical Center, USA
Short Talk: Investigating the Mechanism and Consequences of 2-Hydroxyglutarate Accumulation in Patients with Neurological Abnormalities

18:45—19:00
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)

Peaks 4 & 5
19:00—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Peaks 1-3

SUNDAY, JANUARY 26

 
Departure


*Session Chair †Invited, not yet responded.



Keystone Symposia thanks our Sponsors(s) for generously supporting this meeting:

Editas Medicine Novo Nordisk A/S

We gratefully acknowledge the generous grant for this conference provided by:


National Institutes of Health

Grant No. 1R13HG010827-01

Funding for this conference was made possible (in part) by 1R13HG010827-01 from the National Institutes of Health. The views expressed in written conference materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention of trade names, commercial practices, or organizations imply endorsement by the U.S. Government.


We gratefully acknowledge additional in-kind support for this conference from those foregoing speaker expense reimbursements:



Fabric Genomics


Verily


We appreciate the organizations that provide Keystone Symposia with additional support, such as marketing and advertising:


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Special thanks to the following for their support of Keystone Symposia initiatives to increase participation at this meeting by scientists from underrepresented backgrounds:


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If your organization is interested in joining these entities in support of Keystone Symposia, please contact: Sarah Lavicka, Director of Corporate Relations, Email: sarahl@keystonesymposia.org,
Phone:+1 970-262-2690

Click here for more information on Industry Support and Recognition Opportunities.

If you are interested in becoming an advertising/marketing in-kind partner, please contact:
Nick Dua, Senior Director, Communications, Email: nickd@keystonesymposia.org,
Phone:+1 970-262-1179