NHGRI and NIAID researchers developed a new mouse model of a human immunodeficiency disease caused by mutations to the gene PI3-kinase delta. Treating these mutant mice with broad antibiotics prevented both the hyper-reactivity of their lymphocytes (white blood cells that are part of the immune system) and the generation of a wide range of autoantibodies. The findings, published in Nature Immunology, have broad implications for a people with immunodeficiencies and autoimmune conditions.
Every year, graduate students and postdocs at the National Human Genome Research Institute (NHGRI) and other institutes at the National Institutes of Health compete in a high-energy science communications contest called the Three-Minute Talk (TmT). For the first time in competition history, all the participating institutes agreed to allow postbacs to compete in the TmT finals. NHGRI's Stacy Desine earned first place after the finals on June 29, 2018, becoming the first postbac to win the TmT competition.
In the world of canine genomics, sport hunting dogs are super athletes and terriers are plucky supermodels. NHGRI researchers reached this conclusion after identifying 59 genes or gene regions linked to canine athletics, including those with roles in endurance, heart function, blood flow and pain perception. What terriers lacked in sporty genes, they made up for in genes associated with physical attributes such as their trademark facial hair. The researchers published their findings in The Proceedings of the National Academy of Science (PNAS).
A year ago 14-year-old Rohith Lokesh spent most of his days barely walking and in a wheelchair. After cutting-edge treatment at the NIH Clinical Center this patient is winning dance contests back in his hometown. This patient's story highlights what the NIH Clinical Center can do that's hard to do somewhere else. From using mechanistic studies and genome sequencing to inform your patient care - that's unique to NIH.
Authorities recently used online genealogy data on vast troves of genomic information, but diverse populations are still underrepresented in public genomic databases, accordinto identify the suspected Golden State Killer, a serial rapist and murderer who terrorized California decades ago. NHGRI researchers address the ethics of using genealogy data to solve crimes in a May 29 commentary published in the Annals of Internal Medicine. They highlight the need: to alert users that their data may be used in criminal investigations (informed consent), for safeguards to keep genomic data safe (privacy) and to limit criminal genealogy to crimes where other investigative methods have failed (justice).