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News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… world, were published in Blood Advances . … "The discovery of new genes associated with ECD provides hope for improving the diagnoses of a disease that affects so many parts of the body. We also … were available for molecular testing, half had BRAF V600E gene mutations, which is sometimes seen in colon cancer, lung …
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… Benowitz … Researchers funded by the National Institutes of Health Genotype-Tissue Expression (GTEx) project have … differences in an individual's genomic make-up can affect gene activity and contribute to disease. The new resource will enable scientists to examine the underlying genomics of many different human tissues and cells at the …
About Genomics
The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking to sequence and map all the genes of our species.
… The Human Genome Project (HGP) is one of the greatest scientific feats in history. The project was a voyage of biological discovery led by an international group of … to sequence and map all the genes of our species. … About Genomics …
Staff
Rebecca Hong is a scientific program analyst in the Policy and Program Analysis Branch at the National Human Genome Research Institute.
… development, and project management. The focus areas of her work are FDA regulation of genomic technologies and U.S. science policy legislation. …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… Genome Research Institute funded the Centers for Mendelian Genomics (CMG) in 2011 with the charge to discover as many … as possible. In doing so, the CMGs will define the state-of-the-art study designs and methods to find the variants and … previous methods such as linkage mapping and candidate gene approaches. The CMGs aim to make major contributions to …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.
… that patients with sickle cell disease who are considering gene therapy fully understand the meaning and limitations of treatments so they can make an informed decision on … only. They are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to …
Policy Issues
Scientific institutions are developing recommendations to support the responsible use of human gene-editing research.
… to facilitate decision-making for the responsible use of human genome-editing research. … In light of recent advances in gene-editing research and technologies, the National … 1 , 2 Because CRISPR is an important tool for basic genomics research, NHGRI currently conducts and funds …
Educational Resources
A repressor is a protein that turns off the expression of one or more genes.
… … A repressor is a protein that turns off the expression of one or more genes. … Gene, Gene Expression, Gene Regulation, Messenger RNA (mRNA), … Protein, Transcription … A repressor, as related to genomics, is a protein that inhibits the expression of one or …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… Rachael Zisk … Funding will help expand the scale of the ClinGen resource. … The National Institutes of Health … from more than 40 countries, and its impact so far on genomics research and medicine.” To date, the ClinGen … from more than 40 countries, and its impact so far on genomics research and medicine. The consortium has also …
News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… The Molecular Phenotypes of Null Alleles in Cells program will first look at … a program to better understand the function of every human gene and generate a catalog of the molecular and cellular … diseases with an identified genetic cause, as part of the Genomics Research to Elucidate the Genetics of Rare Diseases …