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.
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 this month's issue of The Genomics Landscape, NHGRI Director Dr. Eric Green recognizes Dr. Bill Gahl's signature professional achievements during his tenure as NHGRI Clinical Director. Other topics include the NIH Undiagnosed Diseases Network being featured in the New York Times; the video recording from the 'From Genome to Phenotype' Worhsop is now available; and the National DNA Day Essay Contest is open through March 8, 2019.
Dr. Chuck Venditti, a senior investigator in the National Human Genome Research Institute, is working with the largest group of people affected by methylmalonic acidemia (MMA). The disease impairs an individual's ability to break down and process protein in their food. As a result, toxic acids can build up in the bloodstream and cause serious health problems. Dr. Venditti and his dedicated research team will soon begin clinical trials to test several new genomic treatments.
Geared to students in grades 9-12 worldwide, the American Society of Human Genetics DNA Day Essay Contest celebrates National DNA Day by asking students to examine, question, and reflect on important concepts in genetics. This year's question asks students if a medical provider should disclose a patient's medical information to close relatives after receiving a diagnosis. Deadline: March 8, 2019 at 5:00 p.m. U.S. Eastern Time. Winners will be announced on National DNA Day, Thursday, April 25, 2019.