Video now available

NHGRI partners with patient to test new Proteus syndrome treatment

Clinical trial participant Jerry DeVries is testing a new treatment for Proteus syndrome, the rare genetic condition he has that causes parts of the body to grow more than they should. This genetic disorder is caused by a mutation of the AKT1 gene and is never inherited. Mr. DeVries is taking the drug in a clinical trial led by Leslie Biesecker, M.D., chief of NHGRI's Medical Genomics and Metabolic Genetics Branch. The drug tries to dial back the level of activation of the gene that is overactive in Proteus syndrome. Watch the video

The Genomics Landscape

Virtual Reality Technology in Social and Behavioral Research

For this issue of The Genomics Landscape, I am delighted to feature the cutting-edge behavioral research capabilities of the Immersive Virtual Testing Area (IVETA) found within our institute's Intramural Research Program. This month's issue also highlights an educational infographic illustrating the basics of genetics and genomics, a study about DNA sequencing accuracy and a new collaboration in genomic medicine. Read more

Study reveals promising results for treating methylmalonic acidemia

A new study of methylmalonic acidemia (MMA) from NHGRI and University of Pennsylvania researchers found that most patients had a lower than expected immune reaction (indicated by the lack of antibodies) to a virus commonly used to deliver therapeutic genes. Gene therapy with the same virus was used to successfully treat mice with MMA. This means that most patients with MMA could be candidates for gene therapy. MMA is a rare and potentially life-threatening genetic disorder in which the body cannot properly turn food into energy. Read the press release | Read the study

New study challenges gold standard for validating DNA sequencing results

A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results. The research suggests that newer, faster, "next-generation" DNA sequencing (NGS) methods are as accurate - and perhaps more accurate - than Sanger sequencing, a time-tested technique that is typically used to confirm NGS results. The study may affect DNA sequencing of clinical samples and the diagnostic pipeline for genetic tests. Read more

National DNA Day: Improving genomic literacy on a national scale

The National Human Genome Research Institute will mark its fourteenth annual National DNA Day by organizing a nationwide network of educational events for students, teachers and health professionals. Celebrated on April 25th every year, National DNA Day aims to educate people about important scientific advances in genomics and how those advances may impact their lives. National DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. Read more