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Genome completed: What's next?

By John Tyler

Richard Gibbs, PhD, director of Baylor's Human Genome Sequencing Center, left, and Francis Collins, MD, director of the National Human Genome Institute, National Institutes of Health, are pictured at the celebration of the completion of the human genome early this year.

The Human Genome Project to determine the “blueprint of human life” was completed in April, but what’s next?

Enter the haplotype map, or “HapMap.”

The science behind the HapMap is based on the understanding of haplotype. In the human population, 99 percent of DNA sequence is the same. The variations that exist are often the source of diseases or disorders. Often genes are grouped so closely together that they are inherited as a closely linked group. When this happens, the gene groups are considered a haplotype. If there are variations in those linked genes that cause disease, then the disease is passed along with the haplotype that is its genetic source.

In essence, the HapMap will identify sequences of the human genome that are shared by many groups of people. These sequences will become landmarks along the blueprint to which scientists can go as they search for specific genes linked to often-common diseases.

Scientists at the Human Genome Sequencing Center at Baylor College of Medicine are now using genomic methods to study the genes related to common illnesses including asthma, cancer, diabetes and heart disease.

“In 10 to 20 years when you go to the doctor, he or she is going to want to know a lot more about your family history than physicians do now,” said Richard Gibbs, PhD, director of Baylor’s Human Genome Sequencing Center. “And your physician will get that history from looking directly at your DNA.”

Gibbs and a cadre of international scientists in the field of genomics are participating in the project. Kicked off last year and expected to take about one more year to complete, the HapMap will chart genetic variation within the human genome at an unprecedented level of precision.

By comparing genetic differences among individuals, Gibbs and his colleagues from Nigeria, Japan, China and the United States hope to identify those specifically associated with a particular health condition or medical syndrome. Consortium members believe they can create a tool to help researchers detect the genetic contributions to many diseases.

"We are excited to continue Baylor's role in this next phase of the human genome project," said Gibbs. "The work of the human genome project gave us a reference sequence for an individual. The HapMap will give us a new set of tools that will ultimately allow us to understand how genetic diseases affect the human population."

Baylor’s involvement with the Human Genome Project stretches back to 1990, when the College was one of six centers designated as a human gene research center and given a five-year, $10 million grant as a prelude to launching the Human Genome Project. In 1996, the National Human Genome Research Institute designated Baylor as one of six pilot programs for the final phase of the Human Genome Project. The initial grant was $1.5 million, but funding increased to $4 million and $8 million during 1997 and 1998, respectively. In 1999, the Center received an $80 million, five-year grant as one of the three sites from the pilot program to complete the final phase.

Baylor’s Center will complete its portion of the HapMap project in collaboration with San Francisco-based ParAllele Bioscience.

ParAllele has developed the multiplexed probe technology enabling Gibbs and his research team to analyze large numbers of DNA genetic markers simultaneously to determine similarities within groups of individuals with specific diseases.

"This will allow us to ask questions such as why a certain part of the population gets heart disease at age 45, when others live disease free well into their 90s,” Gibbs said. “It will greatly affect how we understand the underlying genetic mechanisms behind many diseases."

In addition to its use in studying genetic associations with disease, the HapMap should be a powerful resource for studying the genetic factors contributing to variation in response to environmental factors and susceptibility to infection. It should also explain why some drugs or vaccines are more effective in some people than others as well as why they cause adverse responses in some patients.

All such studies will be based on the expectation that there will be higher frequencies of the contributing genetic components in a group of people with a disease or particular response to a drug, vaccine, pathogen, or environmental factor than in a group of similar people without the disease or response.

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