Photo By Lillian Furlong
A four-year, $4.8 million contract to coordinate activities for several whole-genome studies of human disease has been awarded to the Hutchinson Center and University of Washington by the National Human Genome Research Institute of the National Institutes of Health.
The new coordinating center will provide statistical and data-management advice and services to a number of specific disease studies across the United States. The studies will compare the genetic profiles of individuals with a certain disease to the profiles of healthy people to determine the location of the genes that contribute to the disease. The disease studies include:
- International Consortium to Identify Genes and Interactions Controlling Oral Clefts (Johns Hopkins University)
- Study of Addiction: Genetics and Environment (Washington University School of Medicine)
- Genomewide Association for Gene-environment Interaction Effects Influencing Coronary Heart Disease (University of Texas Health Science Center)
- A Genomewide Association in a Population-based Lung Cancer Study (National Cancer Institute)
- Genes and Environment Initiatives in Type 2 Diabetes (Harvard University)
- Genomewide Association Mapping: Maternal Metabolism-birth Weight Interactions (Northwestern University)
- Dental Caries (tooth decay): Whole Genome Association and Gene x Environment Studies (University of Pittsburgh)
- Genomewide Association Studies of Prematurity and Its Complications (University of Iowa)
"While there have been numerous individual studies at the UW and the Hutchinson Center, this is the first time we've coordinated multiple whole-genome association studies across the country at one time," said Dr. Bruce Weir of the Public Health Sciences Division and chair of the UW Department of Biostatistics.
Weir, who has experience in developing statistical methodology for genetic data, is one of three principal investigators who will be leading the new coordinating center. Joining him are Dr. Lon Cardon, of the Human Biology Division, co-director of the Computational Biology Program and UW professor of biostatistics, and Dr. Richard Kronmal, director of the UW Collaborative Health Studies Coordinating Center and UW professor of biostatistics. Kronmal has managed a number of similar multi-site studies. The new coordinating center will involve additional faculty from the UW departments of biostatistics, epidemiology and genome sciences.
"This is a first step in determining the genetic basis of disease and is necessary for the development of therapies and eventual cures," Cardon said. Cardon recently led the statistical analysis of whole-genome studies for several diseases for the Wellcome Trust in the UK, the largest study to date of the genetics behind common diseases such as diabetes, rheumatoid arthritis and coronary heart disease.
Possible path to new therapies
Despite extensive research for more than a decade, the genetic basis of common human diseases remains largely unknown. Yet, scientists believe the identification of genes, variants and pathways involved in particular diseases offer a potential route to new therapies, improved diagnosis and better disease prevention. While previous studies of the human genome have focused on genes, these whole-genome association studies will provide insight into the non-gene sequences making up 98 percent of the genome. Some of these sequences are so-called "functional elements" that contain instructions for switching genes on or off, or control how DNA is packaged and replicated within a human cell. Researchers believe these DNA sequences may play an important role in some diseases.
Weir said the whole-genome association studies are possible because of the success of the Human Genome Project and the more recent international HapMap study of human genetic variation in several human populations, which explored how genes affect health, disease and responses to drugs and environmental factors.
Cardon said the recent Wellcome Trust study provides another powerful resource for human-genetics research.
"The recent discovery of 21 new disease gene associations from the Wellcome Trust Case Control Consortium offers great hope for success from these new NHGRI studies," he said.
NHGRI's Centers of Excellence in Genomic Science program, which began in 2001, pulls together multi-institution, interdisciplinary teams of scientists with the goal of making critical advances in genomic research.