National Institutes of Health researchers
have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. It is caused by the malfunction of OTULIN, a single gene on chromosome 5. They also identified anti-inflammatory treatments to ease some of the patients' symptoms: fever, skin rashes, diarrhea, joint pain and overall failure to grow or thrive. Read more in the Aug. 22, early edition of the Proceedings of the National Academy of Sciences
A recent survey
designed to measure public attitudes about the Precision Medicine Initiative (PMI) Cohort Program has shown that most respondents were willing to participate in this nationwide research. The PMI Cohort Program is a longitudinal research effort that aims to engage 1 million or more U.S. participants to help improve prevention and treatment of disease. The results were published online August 17 in PLOS ONE
. NHGRI's David Kaufman, Ph.D., led the research.
NHGRI Senior Level Position Available
The National Human Genome Research Institute
a component of the National Institutes of Health (NIH) and the Department of Health and Human Services (DHHS), is seeking exceptional candidates for the position of Director, Division of Genome Sciences. The ideal candidate will have the knowledge and expertise to lead NHGRI's funding for extramural research and training that is aimed at advancing the understanding of the structure and function of genomes and their implications for biology and disease etiology.
The genetic origins of a fierce Sardinian dog
(also called Fonni's dogs for the city of the same name) mirror recent studies that also traced the genetic origins of human Sardinians to the Middle East and Hungary, according to scientists at the National Human Genome Research Institute. Sequencing the whole genome of Fonni's dogs revealed clues about the migration of humans to the area. Findings were reported August 12 in the
Copy number variations (CNVs)
- large segments of DNA that have been duplicated or deleted - play a role in disease susceptibility and drug response. New tools exist that examine the prevalence of CNVs in the protein-coding part of the genome, but their accuracy remains unknown. A new study from NHGRI investigators looks at the reproducibility of the results from the most current tools and finds that further improvements are necessary. The research was published in the August 8 edition of Genome Medicine