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News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… As a growing number of medical centers and laboratories are sequencing patients' DNA, 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 … their own evidence - and expertise - for when and how genes and variants impact disease, this has also led to …
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 … "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 … ¿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 …  Step 3: Consent process  Read, understand and review the informed consent document . Discuss it with …
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 … 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 - … 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. … 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 … or suppressed) by the expression of one or more other genes. … by the expression of one or more independently inherited genes. …