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News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… across evolutionary time and the genomic landscapes of humans and mice, an international group of researchers has … from those in people. Building on years of mouse and gene regulation studies, they have developed a resource that … Michael Snyder, Ph.D., director, Stanford Center for Genomics and Personalized Medicine, Stanford University, …
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 …
Educational Resources
Gene therapy is an experimental technique for treating disease by altering the patient's genetic material.
… Gene Therapy … Gene therapy is an experimental technique for … disorder. Often, gene therapy works by adding new copies of a gene that is broken, or by replacing a defective or … missing gene in a patient’s cells with a healthy version of that gene. Both inherited genetic diseases (e.g., …
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 …
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 …
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. …
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 …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you … ), and through clinical trials . While there are a number of clinical trials for sickle cell gene therapy, the journey … to a certain trial, you should learn about: Phases of a clinical trial. Study outcome(s). How researchers will …