Search Results
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5. … Cri du chat syndrome - also known as 5p- … low birth weight and weak muscle tone (hypotonia) in infancy. The cat-like cry typically becomes less apparent …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… a “search the genome” approach to reveal how mutations in a gene called UBA1 are associated with inflammatory … diseases … Researchers from the National Institutes of Health (NIH) have discovered a new inflammatory disorder … genes to disease diagnosis. Researchers from the National Human Genome Research Institute have discovered a new …
Fact Sheet
Diversity among genomics research participants is essential for improving the health of everyone.
… What makes human genomes diverse? While humans are similar in most ways, our biological processes make each of us unique. Many aspects of those processes are encoded in … data among international researchers. The Human Cell Atlas aims to be a resource that includes in-depth …
About Genomics
Appropriate use of population descriptors in scientific research is critical for the advancement of genomic science and human health for all.
… Report: Using Population Descriptors in Genetics and Genomics Research In response to a request from the National Institutes of Health, the National Academies assembled an … has become far more accessible, and research using human genetic data has grown exponentially over the past …
Fact Sheet
Enhancing the diversity of the research workforce fosters innovation and creativity.
… with disabilities are significantly underrepresented in biomedical research and clinical science. Individuals … can positively influence innovation and interpretation of research and health equity. The National Human Genome Research Institute (NHGRI) is undertaking a …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… a genetic condition that affects a person’s development, in particular their ability to learn and their social … gene on the X chromosome. Because males have only one copy of the X chromosome, they are more likely to show severe … the mutated gene compared to females (who have two copies of the X chromosome). … Fragile X syndrome is a hereditary …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… … A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus … disease. The drug, miransertib, was well tolerated, even in children, according to a National Institutes of Health … determine the correct dose of the medicine. NIH's National Human Genome Research Institute (NHGRI) researchers and …
News Release
NHGRI will fund $3.35 million over five years to launch the Genome Research Experiences to Attract Talented Undergraduates into the Genomics Field to Enhance Diversity (GREAT) program.
… Funding part of broader efforts to enhance diversity of genomics workforce … The National Human Genome Research Institute (NHGRI), part of the National … backgrounds, including those from groups underrepresented in science, to conduct genomics research and receive career …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… and Public Liaison Branch … An international team of researchers has identified genomic mutations for … researchers determined that CFZS is caused by mutations in the gene MYMK that encodes for the protein myomaker. This … Genomics and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI), part of NIH. People …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… I was deeply flattered to receive an honorary Doctor of Science degree from Washington University at its 2018 … … After more than a decade, The Cancer Genome Atlas (TCGA) program is drawing to an end. A … focused on studying the genomic changes in three types of human cancers: brain, lung, and ovarian cancer. After a …