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NIH’s National Humane Genome Research Institute announces the creation of the Atlas of Human Malformation Syndromes in Diverse Populations


Researchers with the National Human Genome Research Institute (NHGRI), have collaborated with physicians and medical geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations.

Health care providers can use the new atlas to diagnose diverse patients with inherited diseases by comparing physical traits (called phenotypes) and written descriptions of their symptoms with photos and descriptions of people with the same condition and ancestry. Previously, the only available diagnostic atlas featured photos of patients with northern European ancestry, which often does not represent the characteristics of these diseases in patients from other parts of the world. The free electronic atlas was announced online in Genetics in Medicine.

“This atlas is long overdue and much needed,” said Daniel Kastner, M.D., Ph.D., NHGRI scientific director. “The impact of such a resource will be immediate and profound for all health care providers who are diagnosing and treating birth defects and genetic diseases in people of diverse ancestry.”
For more information on the Atlas of Human malformation Syndromes in Diverse Populations, please visit www.genome.gov/atlas.