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Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms. … Research …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… endometrial cancer (CCEC) tumors to date, National Human Genome Research Institute (NHGRI) researchers and their … regulates the expression of other genes throughout the genome. In addition, the researchers looked at patterns of …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new health-related … Lastly, although much has been learned about the human genome, there remains much to be discovered. Genomic … reported during clinical encounters that involve exome and genome sequencing. [2]  While the recommendations do not …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each … word.  … An organism's complete set of DNA is called its genome. Virtually every single cell in the body contains a … that could be used for a broad range of biomedical studies. One such use is to look for the genetic variations …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… . No therapies are currently approved for GNE Myopathy. Studies on mouse models of GNE Myopathy have provided … to be the cause of the muscle decline in GNE Myopathy.  Studies have shown that supplementation of ManNAc to cell … GNE function and enables the production of sialic acid. Studies in mouse models of GNE Myopathy have shown a …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… diseases. The new grants, pending available funds, support studies to better understand the causes and development of … Wise, Ph.D., a program director at the National Human Genome Research Institute (NHGRI), a part of NIH. "The … Translational Sciences. Gene Function Research Grants As genome sequencing reveals new gene variants in UDN patients, …
Research at NHGRI
The Division of Intramural Research conducts scientific studies in NHGRI's labs on and around the NIH campus in Bethesda, Md.
… and genomics by connecting the base pairs of the Human Genome Project to the bedside of those afflicted with a genetic disease. … The National Human Genome Research Institute's (NHGRI) Division of Intramural … metabolic, and immunological disorders, and others. These studies have brought together NHGRI basic scientists and …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. … Ph.D., a genetic counselor at the National Human Genome Research Institute’s (NHGRI) Reverse Phenotyping Core … more than 16,000 research participants who have undergone genome or exome sequencing. Exome and genome sequencing data …