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Eleven 91探花scientists participated in the planning of a new national vision for genome research unveiled earlier this month. The National Human Genome Research Institute of the National Institutes of Health (NIH) announced publication of the plans for future genomic research at a news conference April 14 in Bethesda, Md. The announcement was made at a scientific symposium celebrating the 50th anniversary of the Watson and Crick paper describing the DNA double helix.


The three main areas covered in 鈥淎 Vision for the Future of Genomics Research鈥 are:

鈥擡lucidating the structure and function of genomes

鈥擳ranslating genome based knowledge into health benefits

鈥擯romoting the use of genomics to maximize benefits and minimize harms


Within these areas, the planners identified 15 grand challenges, including:


  • Compiling a parts list of the information contained in the human genome, including regulatory elements, recombination signals, and encoded proteins
  • Identifying and creating computer models of the networks and pathways of gene functions
  • Conducting comparative studies of genomes of other living organisms to understand the mechanisms of evolutionary variation across species
  • Designing computational tools for data management, analysis, and sharing of research findings
  • Developing strategies for identifying the genetic contribution to disease, to predict disease susceptibility, to detect illness early, and to predict drug response
  • Designing strategies to find gene variants that contribute to good health and to resistance to disease
  • Using new understanding of genes and pathways of gene function to create new therapeutic approaches to disease treatment
  • Creating genome-based tools that improve the health of all, including those living in developing nations
  • Linking research on the ethical, legal, and social implications of genome research with policy development
  • Understanding the consequences of uncovering genomic contributions to human traits and behaviors
  • Training students and professionals in a number of disciplines on aspects of genomics
  • Educating the public to be informed on genomics for effective participation in policy debates and decision-making


The 91探花scientists participating in the future of genomics planning groups were:

Dr. Melissa Austin, professor of epidemiology; Robin Bennett, genetic counselor and manager of the 91探花Medical Genetics Clinic; Dr. Wylie Burke, professor and chair of medical history and ethics; Dr. Philip Green, professor of genome sciences;

Dr. Arno Motulsky, professor of medicine and of genetics; Dr. Debbie Nickerson, associate professor of genome sciences; Dr. Maynard Olson, professor of genome sciences and of medicine in the Division of Medical Genetics; Dr. Bonnie (Roberta) Pagon, professor of pediatrics;

Dr. Scott Ramsey, associate professor of medicine in the Division of General Internal Medicine; Dr. Elizabeth Thompson, professor of statistics and biostatistics; and Dr. Robert Waterston, professor and chair of genome sciences. Burke headed the Ethical, Legal, and Social Implications policy planning group.