NHGRI logo

Genomic Opportunities for Studying Sickle Cell Disease

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


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
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  

To view the PDF document(s) on this page, you will need Adobe Reader. Download Adobe Reader

Last updated: June 11, 2012