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New Directions for Sickle Cell Therapy in the Genome Era

Conference Summary

National Institutes of Health
November 19-21, 2003

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The conference, "New Directions for Sickle Cell Therapy in the Genome Era" was held at the Natcher Conference Center of the National Institutes of Health in Bethesda, MD on November 19-21, 2003. The conference was organized and supported by the National Human Genome Research Institute, the National Heart, Lung, and Blood Institute, the National Institute of Diabetes and Digestive and Kidney Diseases, the Office of Rare Diseases, the Fogarty International Center, and the Foundation for the National Institutes of Health. Over 120 individuals from the United States and abroad attended this invitation-only meeting.

Sickle cell disease was the first disease whose genetic etiology was defined. That occurred more than half-a-century ago, and since then many excellent researchers have given the disorder much attention. This has produced major gains in both understanding the biology of the disorder, such as the pathophysiological importance of polymerization, and in developing better therapies, such as hydroxyurea. Despite such advances, however, sickle cell disease continues to be a significant cause of mortality, morbidity, and health disparities, both in the United States and globally.

The goal of this conference was to consider how the new tools and techniques of genomics might be applied both to understand more fully the biology of sickle cell disease and to develop more effective therapeutic and preventive strategies for the disease. The ambition of the conference was great - not merely to refine present approaches to sickle cell disease, but to outline bold new approaches likely to produce significant therapeutic advances. Seeking to move the field of sickle cell disease research and care dramatically forward, and mindful that the history of sickle cell disease research is particularly informative about the social and cultural contexts and consequences of health research and health care delivery, the conference featured consideration of such issues.

The conference organizing committee is pleased to present this summary of the conference proceedings. The committee wishes to thank all of the conference speakers, workshop leaders, and participants for their active participation and for their thoughtful contributions that form the basis for this summary.

The conference opened with welcoming remarks from Dr. Elias Zerhouni, Director of the National Institutes of Health (NIH), Dr. Francis Collins, Conference Co-Chair and Director of the National Human Genome Research Instiute (NHGRI), Dr. Barbara Alving, Acting Director of the National Heart, Lung, and Blood Institute (NHLBI), and Prof. Sir David Weatherall, Oxford University, Conference Co-Chair.

A series of seven plenary talks was then presented, with highly interactive discussion periods following each talk. The body of this report summarizes each session and concludes with recommendations from the meeting.

Included also are:

Anyone wishing to comment or inquire about this report is invited to contact:

Alan Guttmacher, M.D.
Deputy Director
National Human Genome Research Institute
E-mail: guttmach@mail.nih.gov

Greg Evans, Ph.D.
Leader, Hemoglobinopathy and Genetics Scientific Research Group, Blood Diseases Program
National Heart, Lung, and Blood Institute
E-mail: evansg@.nih.gov

Last updated: November 22, 2013