A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response. Based on clinical data from patients with mitochondrial disease, the researchers created a mouse model of mitochondrial disease in T-cells, which play important roles in humans' immune response. The mutations resulted in an increased risk of infections and reduced protective immunity after vaccinations. The study appeared June 6, 2017, in the journal Cell Metabolism.
Since 2014, NIH has offered Institutional Review Board (IRB) training to American Indians and Alaska Natives. Dr. Deana Around Him, a citizen of Cherokee Nation of Oklahoma and training participant, learned how NIH ensures the welfare of people who participate in biomedical studies and helped improve the IRB training.
Dr. Cynthia Tifft, NHGRI Deputy Clinical Director and Director of the Pediatric Undiagnosed Diseases Program at the National Institutes of Health, has received the National Organization for Rare Diseases (NORD) 2017 Rare Impact Award. Dr. Tifft has dedicated decades of work to researching rare diseases and advocating for rare disease patients.
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch (SBRB), which conducts research that will potentially transform healthcare through the integration of genomic medicine into the clinic. Her overarching goal for the branch is to build bridges across disciplines, including fields within the social and behavioral sciences and the biological and genomic sciences. SBRB research also includes a focus on disorders that have a major public health impact.