The atlas will provide clinicians with written descriptions and photographs of people from diverse backgrounds with inherited diseases whose ancestry may be similar to that of their patients. The diagnostic atlas previously available exclusively featured photos of patients of northern European descent.
“This atlas is long overdue and much needed,” said Daniel Kastner, MD, PhD, NHGRI scientific director. “The impact of such a resource will be immediate and profound for all healthcare providers who are diagnosing and treating birth defects and genetic diseases in people of diverse ancestry.”
The atlas is a work in progress and currently features information on Down syndrome, 22q11.2 deletion syndrome and Rubinstein-Taybi syndrome.
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