American Society of Human Genetics (ASHG) members have selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and long-time investigator with NHGRI, as their new president-elect. In 2019, Dr. Biesecker will become president of ASHG, a professional membership organization for human genetics specialists worldwide. He will serve in his personal capacity. Dr. Biesecker is the senior investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch.
On November 2, 2017, experts from The NHGRI Dog Genome Project turned to Reddit - a social news website and discussion forum - to answer questions from the Reddit community as part of an "Ask Me Anything" (AMA). Dog genomes hold a wealth of information for understanding natural variation in dog populations, like body size or fur type, and for learning more about how the genomes of both dogs and humans contribute to health and disease. Read a recap of the recap of the event.
A new NHGRI study focused on why some people grow out of childhood attention deficit hyperactivity disorder (ADHD) and others continue to have symptoms into adulthood. They discovered that adults with ADHD persisting from childhood partly lose the usual balance found between brain systems that control action and those that emerge when they are simply day-dreaming or introspecting. This imbalance might account for the lapses of attention that are found in ADHD. The study was published in the Oct. 31 issue of PNAS.
In the first study of its kind, an international team of genomics researchers have identified new regions of the genome that are associated with skin color variation in some African populations. In these newly identified regions are genes that repair DNA damage caused by UV light, are associated with albinism and contribute to the production of a novel lysosomal protein. Lysosomes play a role in optimizing nutrition, fighting infections and now, with these findings, in pigmentation The study is published today in the journal Science.
Using facial analysis software, researchers with the National Human Genome Research Institute (NHGRI) and their collaborators successfully diagnosed Noonan syndrome in Africans, Asians and Latin Americans. Noonan syndrome will become part of the Atlas of Human Malformation Syndromes in Diverse Populations, a free online tool that helps healthcare providers better recognize and diagnose rare diseases in non-Europeans. The findings were announced in the September 2017 issue of the American Journal of Medical Genetics.