Search Results
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 …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… ‘omic analyses have produced valuable insights, recent studies have shown that integrative (or multi-omic) analysis … NCI … NIEHS … Contributing NIH Institutes: National Human Genome Research Institute (NHGRI) National Cancer Institute …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… Program has funded research grants from investigators in a wide range of disciplines. Many of these projects have used … research). Add value beyond the genomics and ELSI research studies that are already ongoing at the applicant … issues raised by such research; 2) to conduct scholarly studies that inform the ethical practice of research; and 3) …
News Release
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
… Genetic Disease Research Branch at NIH's National Human Genome Research Institute (NHGRI). "These results may enhance … genes and the innate immune system response. In future studies, the team plans to investigate in more detail the …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… The National Human Genome Research Institute (NHGRI) Protocol Service Center …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the … to human disease. … The Genetic Disease Research Branch studies how genetic changes affect the structure and function …
Educational Resources
Metagenomics is the study of the structure and function of entire nucleotide sequences isolated and analyzed from all the organisms (typically microbes) in a bulk sample.