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NIH Announces Genome Sequencing Program for Common and Rare Diseases

January 19, 2016


Last week, the National Human Genome Research Institute (NHGRI), a division of the National Institutes of Health, launched the Centers for Common Disease Genomics (CCDG), in order to target the genomic bases of common diseases such as heart disease, diabetes, autism and stroke. NHGRI also announced the creation of the Centers for Mendelian Genomics (CMG), which will do the same genomic investigations with rare diseases, like cystic fibrosis and muscular dystrophy.

The research wing at NIH plans to give $240 million to the CCDG to identify the genetic factors in the common health issues, with another wing of NIH giving an additional $20 million.  CCDG plans to divide the total $260 million amongst Washington University, Baylor College of Medicine, the Broad Institute, and New York Genome Center, where the research teams will use another $40-80 million in additional NIH funding to map the genomes of tens of thousands of people with their population-scale sequencing techniques.

The Mission of the Centers for Common Diseases Genomics

Currently, the highly-targeting diseases are cardiovascular, metabolic and neuropsychiatric diseases. Inflammatory/autoimmune, bone/skeletal, and Alzheimer’s disease could all possibly be targeted as the program progresses. For each disease, the CCDG researchers will sequences over tens of thousands of genomes. By looking into genes that may trigger or inhibit development of diseases, CCDG may be able to use the genomic data comparing those with and those without the disease to pave way for improved treatment and prevention options.

Adama Felsenfeld, Ph.D., director of the NHGRI Genome Sequencing Program, said, “Building on existing research, they will continue to uncover new biological insights into the development of common disease. At the same time, these studies will reveal genomic variants that may increase the risk for – or in some cases, protect against – diseases, which eventually might be helpful for their clinical management.”

The 4-year NIH funding will go towards analyzing the existing sequencing, for as Richard Wilson, the principal investigator at Washington University said, “right now we can generate more data than we have the ability to analyze.” The Genome Sequencing Program Coordinating Center will use about $4 million on data analysis as well.

The Mission of the Centers for Mendelian Genomics   

Running in parallel to the common diseases genome sequencing drive, the CMG will account for analyzing the genetic makeup of rare diseases with the remaining $49 million. The National Heart, Lung, and Blood Institute (NHLBI) will contribute to both CCDG and CMG, while the National Eye Institute (NEI) will contribute to CMG alone.

The CMG program was started in 2011 with the goal of identifying the genomic causes of Mendelian diseases, rare disorders usually caused by single-gene mutations. Over the past four years, more than 20,000 human genomes have been sequenced and analyzed, and over 740 genes have been found that likely cause Mendelian diseases.

Lu Wang, Ph.D., the director of the CMG program noted, “Rare diseases provide an important window into the biology of both rare and common diseases.” By working alongside the CCDG, CMG researchers will continue to sequence the human genome to find the specific disease-causing genes.


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