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News Release
A new method of targeting specific DNA sequences in zebrafish could accelerate the discovery of gene function and the identification of disease genes in humans.
… the discovery of gene function and the identification of disease genes in humans, according to scientists at the National Human Genome Research Institute (NHGRI), part of the National … in an animal model could be particularly useful for human genomic research. Only 10 to 20 percent of recognized …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … a functional copy of the NPC1 gene into mice with the disease; the treated animals were then found to have less … The study, led by researchers at NIH's National Human Genome Research Institute (NHGRI) and the Eunice …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
… whose chromosomal location is associated with a particular disease or other phenotype. … Genes, Chromosome, Phenotype, Traits, Disease, Linkage … is believed to be related to a particular trait, such as a disease or a physical attribute. Because of its genomic … whose chromosomal location is associated with a particular disease or other phenotype. …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease (or condition), when discussed in the context of … from the contributions of multiple genomic variants and genes in conjunction with significant influences of the …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… National Human Genome Research Institute (NHGRI) researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on … with ECD provides hope for improving the diagnoses of a disease that affects so many parts of the body. We also hope …
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 ( … may depend on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you are … you may: Stop taking hydroxyurea or any other sickle cell disease medication for 2–3 months. Receive blood transfusions …
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 … (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, physicians, patients and … content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in …
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.
… with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset … work is automatically accomplished by computers - with no human interpretation or bias - and takes about three hours per exome to analyze an individual's protein-coding genes. …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… they continue to uncover millions of DNA differences in genes and the regions between the genes. But doctors have struggled to know which of these … ClinGen, launched in 2013, is funded by the National Human Genome Research Institute (NHGRI), with co-funding from …
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 … the structure and function of gene products leading to human disease. … signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse systems to identify and better understand …