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Gene therapy is an experimental technique for treating disease by altering the patient's genetic material.
… gene. Both inherited genetic diseases (e.g., hemophilia and sickle cell disease) and acquired disorders (e.g., leukemia) have been treated …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… Research Institute (NHGRI) researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare … were published in Blood Advances . … "The discovery of new genes associated with ECD provides hope for improving the …
Fact Sheets
Un ratón con genes desactivados es un ratón de laboratorio en el que los investigadores han desactivado, o "noqueado", un gen existente. ​
… Un ratón con genes desactivados [en inglés, conocidos como "ratones … y fÃsicas observables. … ¿Para qué se usan los ratones con genes desactivados? Dejar fuera la actividad de un gen ofrece … ese gen hace normalmente. Los seres humanos tienen muchos genes en común con los ratones. Por consiguiente, observar …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… FDA-approved therapies ( lovotibeglogene autotemcel and exagamglogene autotemcel ), and through clinical trials . While there are a number of … be similar across all treatments. This is a long process and it is important to understand what happens at each …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… throughout the body. In December 2023, the U.S. Food and Drug Administration (FDA) approved two gene therapies to … disease. More than 50 scientists, physicians, patients and other experts worked together to develop content for the … is led by NHGRI in partnership with other organizations and individuals. These education materials reflect the …
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.
… Alleles in Cells program will first look at protein-coding genes … The National Institutes of Health is launching a … to better understand the function of every human gene and generate a catalog of the molecular and cellular … Phase 1 of the program will focus on 1,000 protein-coding genes and serve as a pilot phase and has three goals: …
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 understand toxin resistance. …  … by the toxin were classified as highly resistant and the affected ones as sensitive. Then, the researchers … of resistant versus sensitive yeast to identify which genes confer resistance to the toxin.  Through this …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… in heart-clogging cholesterol but the role that a smoker's genes play in their cholesterol levels has been a mystery - until now. … National Institutes of Health researchers and their collaborators identified 13 new gene regions that … data on nearly 400,000 individuals to search for how genes interact with smoking in the context of lipid levels. …
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.
… by computers - with no human interpretation or bias - and takes about three hours per exome to analyze an individual's protein-coding genes. … The UDP is part of the Undiagnosed Diseases Network … gene variants. Researchers found, on average, 6.6 faulty genes in people with undiagnosed diseases compared to 5.8 …
Educational Resources
Epistasis is a circumstance where the expression of one gene is affected by the expression of one or more independently inherited genes.
… by the expression of one or more independently inherited genes. … Gene Expression, Gene Variation, DNA, Genes … Epistasis is a circumstance where the expression of … or suppressed) by the expression of one or more other genes. … Epistasis is a circumstance where the expression of …