Search Results
News Release
Small businesses with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics.
… grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics. … When Kelvin Liu began his doctorate degree in … shorter the DNA sequences, the greater the chances that errors could be introduced into the final assembled sequence. …
Policy Issues
Participar en una investigación genómica es una oportunidad para apoyar la exploración científica del genoma.
… los Institutos Nacionales de la Salud (National Institutes of Health, NIH) en su misión de entender, prevenir, detectar …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… Human Genome Research Institute have developed a number of software and analysis tools to help researchers around the … for NextGen sequencing data. BuddySuite A collection of four independent, yet interrelated, command line programs … ad-hoc alternative to replication that can reduce type I errors for GWA studies when appropriate replication data are …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… genomic condition measures disease severity and success of liver transplantation for patients. … Researchers at the National Institutes of Health have developed a breath test that measures how well … “Instead of looking at levels, we decided to measure metabolism itself.” Vast fluctuations in metabolic substances …
Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
… Researchers from the National Institutes of Health-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals … years, researchers have filled in missing gaps and fixed errors in the human genome sequence, but the current genome …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… similarities in how MMA and these disorders affect energy metabolism and, more specifically, the function of mitochondria, the cells' energy powerhouses. The study, … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, was published December …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… bleeding problems, developmental delays, and malformations of the bones of the rib cage. … Noonan syndrome is a disorder that … bleeding problems, developmental delays, and malformations of the bones of the rib cage. Noonan syndrome is caused by …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… for Research on Genomics and Global Health (CRGGH), part of National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH). Dr. Doumatey received her Bachelor’s and Master’s from the Department of Biochemistry, at the University Claude Bernard, Lyon, …
Research Funding
The following are research areas of interest that have been identified by the participating NIH institutes and centers (ICs). Program Officer contact information is also included.
… The following are research areas of interest that have been identified by the participating … that impact diseases relevant to NIAID’s mission (e.g., inborn errors of immunity, primary immunodeficiencies). Investigate …
Policy Issues
Genome editing is a method that lets scientists change the DNA of many organisms, including plants, bacteria, and animals.
… editing is a method that lets scientists change the DNA of many organisms, including plants, bacteria, and animals. … diseases that affect humans. They edit the genomes of animals, like mice and zebrafish, because animals have … in the wrong spot. Scientists are not yet sure how these errors might affect patients. Assessing the safety of gene …