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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 …
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.
… are considering gene therapy fully understand the meaning and limitations of treatments so they can make an informed … to participate. Patients need accessible, understandable, and actionable educational materials to help them make such … groups, industry leaders, government representatives and researchers.  The project group met over four days in …
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 …
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 …
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 3: Consent process  Read, understand and review the informed consent document . Discuss it with … your vein.) During collection, stem cells flow into a bag, and the rest of your blood returns to your body. You may require multiple rounds of the preparation and collection phases to provide enough stem cells. There are …
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 …
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.
… Teresa Carey, M.A. … It’s teatime and doctors, researchers and patients are at the table. They … her neurons. At the time, no one knew. Jojo inherited the genes for GM1 gangliosidosis from her mother and father. … try to take over their micro-world by delivering their genes to the host and replicating themselves. Viral …
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 …