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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… NIH researchers find that large language models rely on concise, textbook-like language to evaluate medical questions. … National Institutes of Health (NIH) researchers discover that while artificial … is trained on massive amounts of text-based data. These models have the potential to be very helpful in medicine due …
Talking Glossary
Un gameto es una célula reproductiva de un animal o planta.
… Gameto … Un gameto es una célula reproductiva de un animal o planta. … A gamete is a reproductive cell of an animal or plant. In animals, female gametes are called ova or …
Policy Issues
Genome editing is a method that lets scientists change the DNA of many organisms, including plants, bacteria, and animals.
… editing is a method that lets scientists change the DNA of many organisms, including plants, bacteria, and animals. … lead to changes in physical traits, like eye color, and disease risk. Scientists use different technologies to do … diseases that affect humans. They edit the genomes of animals, like mice and zebrafish, because animals have …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… Jeannine Mjoseth … In the first study of its kind, researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… Jeannine Mjoseth … Researchers with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset … an individual's protein-coding genes. … The UDP is part of the Undiagnosed Diseases Network , which brings together …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In … J, Aflaki E, Sidransky E. Induced pluripotent stem cell models of lysosomal storage disorders. Dis Model Mech. …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over their bodies, kidney problems, higher risk of stroke and in rare cases, chronic leg ulcers. These and … oxygen delivery. Little is known about why the severity of these symptoms varies throughout the course of a lifetime, …
Educational Resources
Centrioles are paired barrel-shaped organelles located in the cytoplasm of animal cells near the nuclear envelope.
… paired barrel-shaped organelles located in the cytoplasm of animal cells near the nuclear envelope. … Cell Biology, … barrel-shaped organelles located in the cytoplasm of animal cells near the nuclear envelope. Centrioles play a …
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 through FDA-approved therapies ( … ), 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 …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… The Big Picture Sickle cell disease is an inherited disorder caused by a change in the … materials reflect the priorities and perspectives of both individuals living with sickle cell disease and the … gene therapy to understand the benefits and limitations of treatments so that they can make an informed decision on …