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NIH

The National Human Genome Research Institute conducts genetic and genomic research, funds genetic and genomic research and promotes that research to advance genomics in health care.

Highlights

Child's brain with a map

NHGRI researchers map the brain to find links between genes and ADHD

When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact, but it is not easily pinned down. Many common but subtle differences in our DNA come together to have a huge influence on creating one of ADHD's cardinal symptoms: hyperactivity-impulsivity. In a study published in the January 30 issue of Molecular Psychiatry, NHGRI researchers examined people with ADHD to map brain connections, called white matter tracts, tied to the disorder.

Eric Green

First FDA-Recognized Public Genetic Variant Database: ClinGen

In the March issue of The Genomics Landscape, NHGRI Director Dr. Eric Green details NHGRI's Clinical Genome (ClinGen) Resource becoming the first FDA-recognized Public Human Genetic Variant Database. Other topics include a new video highlighting an NHGRI Story: Patients and Researchers Working Together; Gene Ontology Resource Turns 20; Applications for ASHG-NHGRI Policy and Fellowships now being accepted; Bruce Tromberg appointed as new NIBIB director; and Noni Byrnes appointed as new CSR director.

Pregnant lady with DNA

Pregnant women want physicians' advice on receiving fetal genomic information

Most pregnant women want doctors' advice on the types of information to receive from prenatal whole genome sequencing according to a new NHGRI survey. Obstetricians and other clinicians will need additional training on how to present fetal genomic information in a way that meets an individual woman's needs.

Jerry DeVries

Cancer drug reduces pain, improves symptoms in people with Proteus syndrome

A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome, a rare genomic disease. Some researchers believe that Joseph Merrick, known as the Elephant Man, may have suffered from Proteus syndrome.

Artificial DNA

NIH's new automated tool-set detects disease-causing genes in undiagnosed patients

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.