The National Human Genome Research Institute (NHGRI) has funded a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and protective variants contributing to multiple common disease phenotypes. This initiative will explore a range of diseases with the ultimate goal of:
Undertaking variant discovery for enough different examples of disease architectures and study designs to better understand the general principles of genomic architecture underlying common, complex inherited diseases.
Understand how best to design rare variant studies for common disease.
Develop resources, informatics tools, and innovative approaches and technologies for multiple disease research communities and the wider biomedical research community.
The initial focus of the CCDGs will be in cardiovascular disease (early onset heart disease, hemorrhagic stroke), and neuropsychiatric disease (autism). The program is designed to consider additional example diseases over time. Currently, the program is considering additional studies in autoimmune/inflammatory diseases (such as asthma, Type 1 diabetes, and inflammatory bowel disease), and bone disorders (osteoporosis). The choice of these, and any additional diseases, will be made based on criteria derived from those stated in the original RFA. These include the ability to undertake a comprehensive, well-powered study, the potential of the new example disease to broaden the range of different disease architectures being studied, or to explore new study designs. At a future date, the CCDG program will develop procedures to identify new studies with the involvement of the scientific community, either through direct interactions or through collaborations with other NIH institutes and centers.
Because the program will undertake multiple disease studies it was designed to encourage collaborations, continuing the productive collaborations enjoyed by the previous iteration of the GSP on large projects in type 2 diabetes, cancer, and Alzheimer's disease. The CCDG program will be co-funded by the National Heart Lung and Blood Institute (NHLBI) which will be providing co-funding for studies of direct interest to the NHLBI community.
We currently estimate that the CCDG program will sequence 150K-200K whole genomes during the life of the program.
Funding for the CCDG - awarded January 14, 2016:
Last Updated: March 15, 2016