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News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… model may inform potential therapeutic options for Down syndrome. … National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version … cognitive traits compared to a previously studied Down syndrome mouse model. The results of this study, published in …
News Release
An ancient, sexually transmitted dog cancer may provide insights into human cancers because of the similarities in the dog and human immune systems.
… researchers until now. Canine transmissible venereal tumor, or CTVT, spreads when cancer cells move from one dog … dogs from a wide variety of species to two of the dog tumor genomes, researchers at the National Human Genome … journal Genome Research . "We figured out which genes the tumor modified so that it could escape the host dog's own …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… the cell's energy supplier. They also discovered that the tumor is characterized by genetic rearrangements near a gene … visit http://www.nih.gov . … Related Content … Rare kidney tumor provides insights on role of metabolic changes in …
News Release
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
… Health researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer. They … like that found by the researchers in some tumor DNA, decreases a gene's activity. Based on this … a methylation mark (or signature) around ZNF154 in 15 tumor types in 13 different organs and deemed it a possible …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge syndrome and velocardiofacial syndrome, affects from 1 in 3,000 to 1 in 6,000 children. …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… Ph.D. … Mutations in the RIPK1 gene responsible for CRIA syndrome Over the last 20 years, three families have been … the cause of the illness, a new disease called CRIA syndrome. The results were published in the journal Nature . … cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome.       Although the researchers made the connection …
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… what happens when two genetic neighborhoods merge in brain tumor cells. Researchers found that one gene came under the … (NHGRI). Gliomas are the most common type of brain tumor in adults, but these tumors are difficult to treat. The … what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… Doctors initially misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My … the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). Thirty-five years later, researchers have … laborators-identify-the-genomic-cause-for-careyfinemanziter-syndrome/" …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… explores the implications, challenges and opportunities associated with the possible use of genomic sequence …
About NHGRI
The Board of Scientific Counselors evaluates the NHGRI intramural research programs and provides periodic technical and scientific peer review.
… Human Genome Research Institute (NHGRI) and provides periodic technical and scientific peer review of the work of … Human Genome Research Institute (NHGRI) and provides periodic technical and scientific peer review of the work of … the NHGRI intramural research programs and provides periodic technical and scientific peer review. … Scientific …