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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 …
Talking Glossary
BRCA1 y BRCA2 son los dos primeros genes que se identificaron como asociados a tipos hereditarios del cáncer de mama y de ovario. Las personas con mutaciones en BRCA1 o BRCA2 tienen un riesgo mucho más alto de desarrollar cáncer de mama, de ovario u otros tipos de cáncer en comparación con las personas que no tienen mutaciones en estos genes.
… BRCA1/BRCA2 … BRCA1 y BRCA2 son los dos primeros genes que se identificaron como … mama y de ovario. Las personas con mutaciones en BRCA1 o BRCA2 tienen un riesgo mucho más alto de desarrollar cáncer …
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 … African ancestry. This enabled researchers to find new gene regions associated with lipids that could not be found …
News Release
NHGRI researchers have identified a genomic signature for some aggressive prostate tumors, which may help healthcare providers pinpoint treatment options.
… the National Cancer Institute . The new finding focuses on BRCA2 mutations, which are associated with breast and ovarian … prostate cancer. Both men and women can inherit a faulty BRCA2 gene from either their mother or father. When working …
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 …
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… differences in an individual's genomic make-up can affect gene activity and contribute to disease. The new resource … It gives us unique insights into how people differ in gene expression in tissues and organs." NIH launched the GTEx … for scientists to study how genomic variants may affect gene activity and disease susceptibility. Investigators are …