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Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… codes for a protein that normally suppresses the growth of tumors by arresting cell division. Humans born with mutations … with more than half of human cancers and often lead to tumors in a particular set of tissues. However, when the p53 gene is knocked out in mice, the animals develop tumors in a different array of tissues.Despite these …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… blood pressure), laboratory tests (e.g. lipid levels, kidney function), social determinants profiles (e.g. … of the cohort based on their genotype (e.g. APOL1 chronic kidney disease risk alleles) for a call-back visit for more … health profile (such as: blood pressure, cholesterol, kidney function, diabetes testing) Free CTA to detect …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… low calcium levels (50 percent), differences in the kidney (35 percent), characteristic facial appearance …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… BRAF -targeted therapy strategies," they added. Canine tumors carrying the mutation also offer a new environment for … high frequency of the mutation, examination of the dog tumors might enable us to determine why this particular …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… M.D., National Institute of Diabetes and Digestive and Kidney Diseases; David Cooper, Ph.D., Peter Stenson, Cardiff … and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). NHGRI is one of the 27 institutes … diseases; digestive diseases, nutrition and obesity; and kidney, urologic and hematologic diseases. Spanning the full …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… methylation reprogramming in testicular germ cell tumors . Genome Res, 26(11):1490-1504. 2016. Li J, Woods SL, …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… lead to improvements in other SCD problems such as liver, kidney and other organ damage. All stakeholder groups wanted …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… diet, which can damage a number of organs and lead to kidney failure. MMA patients also suffer from severe … a restrictive diet, but doctors must resort to dialysis or kidney or liver transplants when the disease progresses. In …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… with an unprecedented understanding of how, where, and why tumors arise in humans, enabling better informed clinical …