Haplotypes: Genetics' newest chapter

The team that helped sequence the human genome is now crafting a tool to help decipher what makes individuals distinct.

By Susan J. Landers, AMNews staff. May 20, 2002.

Mapping Disease
As the results of the Human Genome Project began to shake out into clinical applications, this 2001-02 series detailed progress in the prevention and treatment of a variety of diseases and conditions -- both on the near horizon and possibilities far into the future.

Washington -- The quest for the genetic cause of all the complex yet common diseases that afflict humans could take a giant leap forward with the development of a map of the genetic variations between individuals.

Many of the scientists who directed the public effort to sequence the human genome are working to develop a haplotype map. This hap map would enable researchers to perform efficient and comprehensive genomewide scans to find variations that predict an individual's risk for a disease, susceptibility to infection or response to a drug.

An important tool, the hap map could be ready for use in two years, said Francis Collins, MD, PhD, director of the National Institute of Health's National Human Genome Research Institute, which is spearheading the effort. He described the mapping project to a large gathering of transplantation specialists meeting in Washington, D.C., on April 27.

Just over a year ago, Dr. Collins and colleagues unveiled the nearly completed draft sequence of the human genome amid predictions that many primary care physicians will begin to practice genetic medicine within a decade.

However, "If the human genome is going to be put to use to help humanity, we've got to get the tools to use it," said Ellen Wright Clayton, MD, director of Vanderbilt University's Center for Genetics and Health Policy in Nashville, Tenn. Dr. Clayton also co-chairs one of the groups overseeing the map's development.

The hap map is believed to be the tool needed to reach this lofty goal. [...]