The Division of Intramural Research conducts a broad program of laboratory and clinical research
Researchers with the National Institutes of Health Undiagnosed Disease Program have developed a powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically accomplished by computers - with no human interpretation or bias - and takes about three hours per exome, an individual's protein-coding genes.
In the first study of its kind, NHGRI researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease. Study participants expressed overall optimism about participating in human genome editing clinical trials, but were concerned about treatment risks and transparency of the research enterprise, according to the findings published December 24 in Genetics in Medicine.
