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

New centers to help understand biology, improve diagnoses, of rare mysterious diseases

U D NThe National Institutes of Health recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases. The new grants support studies to better understand the causes and development of rare diseases and improve diagnoses. The funding establishes two new research centers - a Model Organisms Screening Center and a Metabolomics Core - and six awards to explore how specific genes and their variations may cause disease in UDN patients. Read more

New study challenges gold standard for validating DNA sequencing results

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A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results. The research suggests that newer, faster, "next-generation" DNA sequencing (NGS) methods are as accurate - and perhaps more accurate - than Sanger sequencing, a time-tested technique that is typically used to confirm NGS results. The study may affect DNA sequencing of clinical samples and the diagnostic pipeline for genetic tests. Read more

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Scientists create world's largest catalog of human genomic variation

Read moreAn international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, providing researchers powerful clues to why some people are susceptible to various diseases. Understanding how these differences - called genomic variants - contribute to disease may help clinicians develop improved diagnostics, treatments and prevention methods. The two studies are published online in Nature. Read more

Featured Grants

  • Novel Nucleic Acid Sequencing Technology Development - Direct to Phase II (R44)
    RFA-HG-15-039 []
    Application Due Date(s): August 7, 2016
    Expiration Date: August 8, 2016


Last Updated: April 20, 2016