NIH Genome Sequencing Program Targets the Genomic Bases of Common, Rare Disease

The National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases. The National Human Genome Research Institute (NHGRI), part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. NHGRI also announced the next phase of a complementary program, the Centers for Mendelian Genomics (CMG), which will continue investigating the genomic underpinnings of rare, typically inherited diseases, such as cystic fibrosis and muscular dystrophy.

“Advances in DNA sequencing are creating tremendous new opportunities for exploring how the genome plays a role in human disease,” said NHGRI Director Eric Green, M.D., Ph.D. “Our continued focus on both rare and common diseases promises to reveal important aspects about the genomic architecture of a wide range of human disorders.” 

CCDG researchers plan to examine a select group of disorders in order to develop approaches for using genome sequencing to study common disease more broadly. By sequencing an expected 150,000 to 200,000 genomes of individuals with these diseases, the CCDG program aims to improve understanding of how genomic differences among people influence disease risk and to develop models for future studies of common disease. CMG scientists will build on an international network of research collaborations and sequence the genomes of individuals with a wide range of rare disorders seen around the world. Together, the CCDG and CMG programs aim to discover the genes and genomic variants – spelling differences in DNA – that cause or contribute to disease, which may eventually lead to improved diagnosis and potential treatments. 

Pending the availability of funds, NHGRI will fund the CCDG and CMG programs for roughly $240 million and $40 million, respectively, over four years. NHGRI will also fund a new Coordinating Center for approximately $4 million over four years to facilitate research collaborations among the program grantees, and to contribute to data analysis and program outreach. 

In addition, the National Heart, Lung, and Blood Institute (NHLBI) will contribute to both the CCDG and CMG programs, while the National Eye Institute (NEI) will provide support to the CMG program. Both institutes are also part of NIH.

The new CCDG program represents an important step in the evolution of NHGRI’s long-standing, flagship Genome Sequencing Program (GSP). In its earliest phase, the GSP represented NIH’s major contribution to the Human Genome Project. As DNA sequencing costs dropped, the GSP focused much of its efforts on large-scale genome sequencing projects, most recently organized as Large-Scale Genome Sequencing and Analysis Centers, one of several NHGRI genome sequencing efforts launched in 2011. Those centers contributed to a wide range of pioneering genomic studies, including the 1000 Genomes Project, which involved sequencing thousands of human genomes to help chronicle genomic differences among and between populations across the world, and The Cancer Genome Atlas (TCGA), an NHGRI partnership with the National Cancer Institute that catalogued genomic changes involved in cancer.

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