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NIH creates Atlas of Human Malformation Syndromes in Diverse Populations

From left: Adebowale Adeyemo, M.D., Max Muenke, M.D., and Paul Kruszka, M.D., co-created the Atlas of Human Malformation Syndromes in Diverse Populations with collaborators around the world. Bethesda, Md., Fri., April 29, 2016 - Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have collaborated with physicians and medical geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. The free electronic atlas, announced March 3, 2016 online in Genetics in Medicine, allows health care providers to diagnose diverse patients with inherited diseases by comparing physical traits and written descriptions of their symptoms with photos and descriptions of people with the same condition and ancestry.  Read more

NIH researchers identify striking genomic signature shared by five types of cancer

Read moreNational Institutes of Health researchers have identified a signature in tumor DNA that occurs in five different types of cancer. They also found evidence that this methylation signature may be present in many more types of cancer. The study appears in the February 5, 2016, in The Journal of Molecular Diagnostics. Read more

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Schizophrenia: Ancient scrolls, genomic sequencing and synaptic pruning

Read more February's Genome Advance of the Month describes a leap forward in understanding the heritability and progression of schizophrenia in a study by researchers at Harvard Medical School and the Broad Institute. The study, published in the February 11, 2016 issue of Nature, signals the potential for research using large numbers of whole genome sequences, innovative biological methods and advanced software toolkits for analysis. Read more

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Last Updated: April 29, 2016