Baylor Human Genome Sequence Center key player in mapping human genetic variation

A comprehensive map of human genetic variation, published today in the journal Nature, is not only a major achievement by the International HapMap Consortium, but it also opens the door to future efforts that could pinpoint the changes that actually alter the way genes work, said the Baylor College of Medicine researcher who led the local HapMap effort.

The HapMap itself, now in Phase I, will accelerate the search for genes that contribute to common diseases such as asthma, diabetes, cancer and heart disease. "This effort epitomizes the maturation of genomics back into genetics," said Dr. Richard Gibbs, director of the Baylor Human Genome Sequencing Center. "Researchers everywhere can carry out genetic studies, based on the HapMap data and disease gene discoveries will emerge from this work."

Gibbs also describes a natural next stepping stone to understanding human gene variation and its relationship to disease in a commentary in the same issue of Nature. Together with the results from HapMap, the project, this effort puts the focus back on gene changes that directly affect humans.

Data from the HapMap, which took three years and $138 million to produce, was made available on the Web as it was generated, resulting in findings that have already been published in a variety of journals and presented at scientific meetings. The map also provides information that could lead to explanations about variations in response to drugs, chemicals and factors in the environment.

More than 200 researchers from Canada, China, Japan, Nigeria, the United Kingdom and the United States forged a public-private partnership to determine the patterns of genetic variation common in the world's populations. Gibbs and the Baylor sequencing center participated in genotyping in collaboration with a California company called ParAllele that had developed new technology in the area.

"We worked closely with Paul Hardenbol and Tom Willis at ParAllele Biosciences, to

Contact: Ross Tomlin
Baylor College of Medicine

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