SCD Workshop Agenda

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Genomic Opportunities for Studying Sickle Cell Disease

Manchester Grand Hyatt, America's Cup Room A-B
San Diego, California
December 8-9, 2011

Agenda

Thursday, December 8, 5:00 - 9:30 p.m., 2011
Time Topic Presentation Slides
5:00 p.m. Welcome
Video Remarks
Susan Shurin, M.D.
Eric Green, M.D., Ph.D.
5:30 p.m. State of the Science of Sickle Cell Disease
Moderator: Richard Gibbs, Ph.D.
  • Phenotypic Variation
  • Molecular Basis of the Disease
Michael DeBaun, M.D., M.P.H. PDF file
Stuart Orkin, M.D. PDF file
6:20 p.m. Working Dinner  
7:20 p.m. Vision for the Future of Sickle Cell Disease Research David Nathan, M.D. PDF file
8:15 p.m. Strategic Approaches
Moderator: Moderator: Russell Ware, M.D., Ph.D.
  • What Can Sequencing and Genomics do for Sickle Cell Disease?
  • Lessons learned from Sequencing and Genomics
James Lupski, M.D., Ph.D. PDF file

Richard Gibbs, Ph.D. PDF file
9:05 p.m. Discussion  
9:30 p.m. Adjourn  


Friday, December 9, 2011, 8:00 a.m. - 4:30 p.m.
Time Topic Presentation Slides
8:15 a.m. Opening Remarks
Comments
Griffin Rodgers, M.D. PDF file

Susan Shurin, M.D. PDF file
8:30 a.m. Challenges of Assembling Cohorts Stephen Rich, Ph.D. PDF file
8:55 a.m. Ethics & Societal Implications
Moderator: Julie Makani, Ph.D.,
  • U.S. Perspective
  • International Perspective
Charmaine Royal, Ph.D.

Aceme Nyika, Ph.D., M.P.H. PDF file
9:45 a.m. Discussion  
10:15 a.m. Break  
10:30 a.m. Samples & Informed Consent
Moderator: Terry Bishop, Ph.D.
  • Opportunities in the U.S.
  • Opportunities in Africa and Other Countries
  • State of the Art of Sample Collection
Harvey Luksenburg, M.D. PDF file

Julie Makani, Ph.D. PDF file

Martin Steinberg, M.D. PDF file
11:30 a.m. Phenotyping
Moderator: Terry Bishop, Ph.D.
James Casella, M.D. PDF file

Elliott Vichinsky, M.D.PDF file
12:20 p.m. Discussion & Working Lunch  
1:00 p.m. Genomic Approaches
Moderator: Stacey Gabriel, Ph.D.
Richard Wilson, Ph.D. PDF file
1:30 p.m. Bioinformatics & Analysis
Moderator: Richard Wilson, Ph.D.
Eric Boerwinkle, Ph.D.

Jeffrey Barrett, Ph.D. PDF file
2:20 p.m. Break  
2:45 p.m. Functional Analysis & Gene Regulation
Moderator: Swee Lay Thein, M.D., D.Sc.
Tim Townes, Ph.D. PDF file
3:15 p.m. Therapeutics
Moderator: Martin Steinberg, M.D.
Russell Ware, M.D., Ph.D.PDF file
3:45 p.m. Discussion  
4:15 p.m. Next Steps and Concluding Remarks Michael DeBaun, M.D., M.P.H.
Richard Gibbs, Ph.D.
Julie Makani, Ph.D.
4:30 p.m. Adjourn  

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Last Updated: June 11, 2012