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).
Precision medicine will largely be built on vast troves of genomic information, but diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from Partners Healthcare/Harvard Medical School and the National Institutes of Health. They found significantly fewer studies of African, Latin American and Asian ancestral populations compared to European populations in two public databases. Findings were published online May 7 in Health Affairs.
Researchers at the National Institutes of Health and the University of Alabama have discovered a connection between the genes that contribute to hair color and the genes that control the body's immune system. This new mouse study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.They published their findings May 3, 2018, in PLOS Biology.
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. By adding highly accurate images and clinical information of diverse people with Williams-Beuren Syndrome, healthcare providers will better recognize and diagnose the rare disease in non-Europeans and deliver critical, early interventions and better medical care. Results are published in the May 2018 issue of the American Journal of Medical Genetics.
The National Human Genome Research Institute's Division of Intramural Research presented the 14th Jeffrey M. Trent Lecture in Cancer Research on March 15, 2018, 12:00 - 1:00 p.m., at the Lipsett Amphitheater, Building 10 (Clinical Center), on the National Institutes of Health (NIH) Bethesda campus. Joan Brugge, Ph.D., co-director, Ludwig Center at Harvard Medical School, delivered the lecture Role of the TRPA1 Ca2+-permeable Channel in Oxidative Stress Defenses in Cancer. Video is now available.