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Researchers working at an NHGRI-supported large-scale sequencing center. Courtesy: The Broad Institute of MIT and Harvard

Centers for Mendelian Genomics uncovering the genomic basis of hundreds of rare conditions

Read moreWhen the Centers for Mendelian Genomics (CMGs) program was launched nearly four years ago, it was charged with the ambitious task of identifying the genomic underpinnings of as many Mendelian conditions as possible. CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions, WHILE ALSO uncovering new, previously unknown conditions and learning important details about the development of many others that scientists had described before.
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GM8: Looking across genomic medicine's gaps and opportunities

Read moreOn June 8-9, international experts discussed the gaps, challenges and opportunities in genomics at Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, sponsored by the National Human Genome Research Institute, part of the National Institutes of Health (NIH), and held in Rockville, Maryland. In a series of nine panels, speakers addressed topics of broad interest across NHGRI programs, including interpreting genomic variants, handling genomic data, and diversity in research populations. Read more

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Featured Grants

  • High Quality Human and Non-Human Primate Genome Sequences (U24)
    RFA-HG-15-027 []
    Application Due Date(s): August 25, 2015
    Expiration Date: August 26, 2015


New view of RNA may help in understanding gene controls

Nature Genetics coverRibonucleic acid (RNA) transmits genetic information from DNA to the cell's protein-producing machinery. RNAs adopt specific physical structures to control when genes are turned on and off. Scientists have now devised a way to view RNA structures in living cells. The new approach, developed at Stanford University with NHGRI support, may greatly improve understanding of gene regulation in biology and medicine.
Read the paper: Structural imprints in vivo decode RNA regulatory mechanisms. Nature, March 18,  2015.

Genome regions linked to BMI and fat distribution

Feet standing on a scaleResearchers have linked multiple new regions of the human genome to body mass index (BMI) and fat distribution, according to two studies just published in Nature. Population Architecture using Genomics and Epidemiology Consortium scientists supported by the National Human Genome Research Institute contributed to the studies that may lead to more effective therapeutic targets. Read more at 


Last Updated: August 6, 2015