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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 …
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
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 …
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 …
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 …
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 …
Event
Several NIH Institutes, Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data. 
… National Institute of Diabetes and Digestive and Kidney Diseases National Institute of Environmental Health …
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. …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… and complex trait mapping and genomic analysis of canine tumors. The primary goal of Dr. Parker’s research is to use … and shared regions of dysregulation with human bladder tumors . BMC Cancer 24;20(1):251, 2020. Parker HG*, Whitaker …
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 …