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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 …
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 …
News Release
Scientists set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how the genome works.
… cell development - whether a cell might become a liver, kidney or skin cell - and the onset of disease, including … developmental path - for example, to becoming a heart, kidney or skin cell. The findings suggest a great deal of …
Staff
Dr. Eggerton Campbell is a senior licensing and patenting manager in the Technology Transfer Office at the National Human Genome Research Institute. ​
… nucleic acid amplification (PCR), detection of tumors/cancer via mutations, recombinant polypeptides, human …
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.
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… biological pathways and the genetic profiles of particular tumors, drug developers might be able to focus their … likely to repair the pathways affected in their particular tumors. … How do biological pathways work? … What are some …
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.
… Volpi, Pharm.D., Ph.D. "Scientists studying asthma or kidney cancer, for example, will be interested in … variants influence the biological function of the lung, kidney and other organs." "Projects supported by the Common … blueprint of every cell is the same, but what makes a kidney cell different from a liver cell is the set of genes …