Search Results
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… to a certain trial, you should learn about: Phases of a clinical trial. Study outcome(s). How researchers will … in a trial may be dependent on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you are …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The … traits), syndrome, continental region of residence and genomic and molecular diagnosis. Previously, the only …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… Mjoseth … Investigators with the National Institutes of Health (NIH) have discovered the genomic switches of a blood cell are key to regulating the … those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. … Improved Understanding of …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions are … (such as falls, motor vehicle accidents or poisoning), genomic factors play a role in nine of the ten leading causes …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Mjoseth … Programs supported by the National Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… The Genome Sequencing Program is consists of the following centers funded through multiple funding … GSP aims to use genome sequencing to identify genes and genomic variants underlying human inherited disease across its full spectrum, including rare diseases …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… is an opportunity to support scientific exploration of the genome and to help NIH in its mission to understand, … or access to a treatment in development. … A wide range of genomic research studies need participants, each with … and health insurers from discriminating you on the basis of your genetic information. Another Federal law called …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… Howard Chang, Stanford University Judy Cho, Icahn School of Medicine at Mt. Sinai Workshop Rationale Moderator: Howard … Chang (Stanford University) 1:05 - 1:15 p.m. Overview of NHGRI’s Strategic Vision Eric Green, NHGRI 1:15 - 1:25 … the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… and Introduction Eric Green 8:40 - 9:00 a.m. Statement of Meeting Goals Elise Feingold Adam Felsenfeld Part I: … a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current State of the … strategy to advance our ability to find and characterize genomic variants, the genomic elements in which they reside …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. … Autosome, Birth Defect, Gene, … is a hereditary disease seen most often among people of African ancestry. Caused by mutations in one of the genes …