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Translating Genetics into Medicine

Available via

WEBINAR

Translating Genetics into Medicine

Thursday, April 25, 2019, 8:30 AM - 6:00 PM

The New York Academy of Sciences, 7 World Trade Center, 250 Greenwich St Fl 40, New York

Presented By

The Biochemical Pharmacology Discussion Group

The New York Academy of Sciences

 

The first genome-wide association studies (GWASs) began unraveling the genetic basis of complex diseases over a decade ago. In that time, the development of innovative analytical and experimental methods enabled genomic data to inform how genetics relates to human traits, health, and disease. Nevertheless, progress has stalled in translating genetic association signals to an understanding of their underlying biological mechanisms, in identifying causal links between genetic variants and phenotypes, and in developing therapies based on this knowledge — few drug targets identified through GWASs have advanced.

This symposium will highlight emerging strategies to experimentally and computationally identify and validate causal association from patient cohorts, and outline the challenges and opportunities in translating GWAS hits into successful drug discovery programs.

Registration

Member
By 03/14/2019
$90
After 03/14/2019
$130
Nonmember Academia, Faculty, etc.
By 03/14/2019
$180
After 03/14/2019
$260
Nonmember Corporate, Other
By 03/14/2019
$250
After 03/14/2019
$350
Nonmember Not for Profit
By 03/14/2019
$180
After 03/14/2019
$260
Nonmember Student, Undergrad, Grad, Fellow
By 03/14/2019
$100
After 03/14/2019
$145
Member Student, Post-Doc, Fellow
By 03/14/2019
$50
After 03/14/2019
$70
Member
$30
Nonmember Academia, Faculty, etc.
$65
Nonmember Corporate, Other
$85
Nonmember Not for Profit
$65
Nonmember Student, Undergrad, Grad, Fellow
$45
Member Student, Post-Doc, Fellow
$15
Earlybird Registration:
0
days
left
Deadline:
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days
left

Keynote Speakers

Richard Lifton
Richard P. Lifton, MD, PhD

The Rockefeller University

Robert Plenge
Robert Plenge, MD, PhD

Celgene

Speakers

Christopher Brown, PhD
Christopher Brown, PhD

University of Pennsylvania

Molly Gasparini
Molly Gasperini

University of Washington

Rajat Gupta
Rajat Gupta, MD

Broad Institute, Massachusetts General Hospital, and Harvard Medical School

Ruth Loos
Ruth Loos, PhD

Icahn School of Medicine at Mount Sinai

Matthew Nelson, PhD, MA
Matthew Nelson, PhD, MA

GlaxoSmithKline

Daniel Rader
Daniel J. Rader, MD

Perelman School of Medicine, University of Pennsylvania

Timothy Reddy
Timothy E. Reddy, PhD

Duke University

Scientific Organizing Committee

Judy Cho, MD
Judy Cho, MD

Icahn School of Medicine at Mount Sinai

Caroline Fox
Caroline Fox, MD

Merck Research Labs

Paolo Guarnieri, MD
Paolo Guarnieri, MD

Boehringer Ingelheim

Julie Hawkins, PhD
Julie Hawkins, PhD

Boehringer Ingelheim

Tuuli Lappalainen
Tuuli Lappalainen, PhD

Columbia University; The New York Genome Center

Alan Shuldiner, MD
Alan Shuldiner, MD

Regeneron Pharmaceuticals and University of Maryland

Dawn Waterworth, PhD
Dawn Waterworth, PhD

Glaxo Smith Kline

Alison Carley
Alison Carley, PhD

The New York Academy of Sciences

Sonya Dougal
Sonya Dougal, PhD

The New York Academy of Sciences





Thursday

April 25, 2019

8:30 AM

Continental Breakfast and Registration

9:00 AM

Introduction and Welcome Remarks

Speaker

Alison Carley, PhD
The New York Academy of Sciences

Session 1: Linking Disease to Genetic Variation

Session Chairperson
Dawn Waterworth, PhD, Glaxo Smith Kline
9:15 AM

Precision Medicine in Obesity — The Value of Genetic Information

Speaker

Ruth Loos, PhD
Icahn School of Medicine at Mount Sinai
9:45 AM

Title to be announced

Speaker

Christopher Brown, PhD
University of Pennsylvania
10:15 AM

Identifying Gene Regulatory Mechanisms of Disease

Speaker

Timothy E. Reddy, PhD
Duke University

Genetic variation that alters gene regulation contributes to many and diverse human diseases. In particular, there is strong evidence that nearly all common human traits and diseases are influenced to some degree by non-coding genetic variation that acts via changes in gene regulation. Even for rare diseases, there is evidence that regulatory variation can influence the severity of diseases. Nonetheless, there persist major technological challenges in our ability to empirically or computationally identify specific regulatory mechanisms contributing to those diseases. Overcoming those obstacles will greatly benefit human health by revealing new opportunities for disease diagnosis and treatment.

I will discuss recent progress in this area, focusing predominantly on the development and use of new high-throughput genome-scale technologies to quantify the effects of non-coding genetic variation on human gene regulatory element activity and the regulation of downstream target genes. I will also discuss recent progress and specific case studies that highlight the use of those techniques to map causal regulatory mechanisms of various human traits and diseases. Finally, I will discuss future directions in those techniques, with an eye towards making the identification of non-coding mechanism of human disease routine.

10:45 AM

Networking Coffee Break

Session 2: Data Blitz Presentations

Session Chairperson
Paolo Guarnieri, MD, Boehringer Ingelheim
11:15 AM

Selection from poster abstract submissions

11:20 AM

Selection from poster abstract submissions

11:25 AM

Selection from poster abstract submissions

Session 3: Keynote Address

Session Chairperson
Judy Cho, MD, Icahn School of Medicine at Mount Sinai
11:30 AM

Keynote Address ~ From Genes and Genomes to Targets and Therapies

Speaker

Richard P. Lifton, MD, PhD
The Rockefeller University
12:15 PM

Networking Lunch and Poster Session

Session 4: Characterizing Functional Relevance of Genetic Variants

Session Chairperson
Julie Hawkins, PhD, Boehringer Ingelheim
1:15 PM

Human Genetics to Identify Vascular Causes of Coronary Artery Disease and Myocardial Infarction: From Discovery to Function

Speaker

Rajat Gupta, MD
Broad Institute, Massachusetts General Hospital, and Harvard Medical School
1:45 PM

New Tools for High-throughput Functional Characterization of the Human Noncoding Genome

Speaker

Molly Gasperini
University of Washington

CRISPR/Cas9 has driven forward the validation of candidate regulatory elements by enabling high-throughput endogenous perturbation of the human noncoding genome. These advances have been enabled by Cas9’s suitability for use in pooled approaches to perturb and phenotype thousands of candidate regulatory elements in a single experiment. In my talk, I will cover two advances for pooled CRISPR/Cas9 screens of the noncoding genome. First, I'll describe a method we devised to scan thousands of kilobase-sized deletions ("ScanDel") across a desired region, programming one unique deletion per cell in a pool and phenotyping them in multiplex by pooled functional selection. In our proof-of-concept study, we used ScanDel to program 4,342 overlapping 1-and 2- kilobase (Kb) deletions that covered 206 Kb centered on HPRT1, the gene underlying Lesch-Nyhan syndrome. However, ScanDel and its contemporaries are limited to evaluating regulatory elements for their effect upon a single gene. To overcome this, we designed and implemented a second method in which large numbers of CRISPR perturbations are introduced to each cell, followed by single-cell RNA-seq to read out their effect upon any transcript. We designed CRISPR perturbations to 5,920 candidate regulatory elements in the K562 cell line, and tested for differential expression of all expressed genes within 1 megabase of each candidate enhancer. We thus effectively evaluated >70,000 potential enhancer-target gene relationships in one experiment, and associated 664 enhancer-gene pairs. Pooled perturbation methods of this scale are poised to facilitate the comprehensive elucidation of the gene-regulatory landscape of the human genome.

Coauthors: Andrew J. Hill, Greg Findlay, José L. McFaline-Figueroa, Melissa D. Zhang, Anh Leith, Cole Trapnell, and Jay Shendure, University of Washingon; Nadav Ahituv, University of California San Francisco.

2:15 PM

From Functional Genomics to Translational Therapeutics for Cardiometabolic Disease

Speaker

Daniel J. Rader, MD
Perelman School of Medicine, University of Pennsylvania
2:45 PM

Networking Coffee Break

Session 5: Emerging Opportunities in Genetics for New Therapeutics

Session Chairperson
Alan Shuldiner, MD, Regeneron Pharmaceuticals and University of Maryland
3:15 PM

Fueling a Genetics-driven R&D Organization

Speaker

Matthew Nelson, PhD, MA
GlaxoSmithKline
3:45 PM

Keynote Address ~ Making Medicines in the Future: Humans as Model Organism

Speaker

Robert Plenge, MD, PhD
Celgene
4:30 PM

Panel Discussion: The Future of Transformational Genetics

Speakers

Moderator: Alan Shuldiner, MD
Regeneron Pharmaceuticals and University of Maryland
Christopher Brown, PhD
University of Pennsylvania
Ruth Loos, PhD
Icahn School of Medicine at Mount Sinai
Matthew Nelson, PhD, MA
GlaxoSmithKline
Robert Plenge, MD, PhD
Celgene
5:00 PM

Networking Reception and Poster Session

6:00 PM

F1000 Poster Prize Presentation and Closing Remarks

6:15 PM

Adjourn