Search Results
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 … welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … They are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to use …
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.
… a program 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 … aims to systematically investigate the function of each gene through multiple phases that will each build upon the …
News Release
NIH researchers have identified a gene that makes yeast resistant to a lethal toxin.
… Newly discovered gene helps some yeast endure toxins and can help scientists … this analysis, the researchers determined that the KTD1 gene provides resistance to the K28 toxin. “This gene has never been studied before,” said Sadhu. “Identifying …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… Step 4: Preparation for stem cell collection (~90 days) Gene therapy requires stem cells to be collected from your … cell collection. The process differs based on the type of gene therapy approach. The process does not always work. If … fails, you may need to repeat stem cell collection. If the gene-modified stem cells do not meet certain criteria and …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… researchers and their collaborators identified 13 new gene regions that influence cholesterol levels, some of which … smoking affected the relationship between an individual's gene variants and their lipids. Lipids consist of low-density … for Research on Genomics and Global Health (CRGGH) . "This discovery will increase our understanding of the biology of …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… echoed this theme throughout the workshop. Disease Variant Discovery The morning of day one focused on the state of the … are rare and typically due to alterations in a single gene. The Centers for Mendelian Genomics have made … variant discovery, genomics and medicine, Adam Felsenfeld, gene variant discovery … NHGRI convened geneticists, …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… materials are available for licensing, including candidate gene therapy-based therapeutics, mouse models of genetic … Ph.D. (NHGRI) Office of Technology Transfer Abstract Gene Therapy for Niemann-Pick Disease Type C (NPC) DHHS …
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.
… powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is … using a menu of techniques to detect potentially harmful gene variants. Researchers found, on average, 6.6 faulty … then investigated which of these potentially bad gene variants contributed to the patients' undiagnosed …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating … disease. Jojo was about to receive the first experimental gene therapy treatment for the rare disease, GM1 gangliosidosis. A faulty gene halts a critical process Dr. Tifft, a geneticist at the …
Educational Resources
Epistasis is a circumstance where the expression of one gene is affected by the expression of one or more independently inherited genes.
… … Epistasis is a circumstance where the expression of one gene is affected by the expression of one or more independently inherited genes. … Gene Expression, Gene Variation, DNA, Genes … Epistasis is a circumstance …