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Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… SGLT2 Inhibitors Attenuate Risk of APOL1-mediated Chronic Kidney Disease 5154W Evan Ying Validation and development of …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic testing is also used to study the genomes of tumors in cancer cases. …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… neoplasia type 1 (MEN1), a condition characterized by tumors primarily of the parathyroid, pituitary and endocrine …
News Release
SJS/TEN is a severe drug reactions that affect the skin, and one of the most severe of adverse reactions affecting any system in the body
… blistering of the skin and mucus membranes; and finally kidney and organ failure. Four days later, on December 28, …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… between salt reabsorption and potassium secretion in the kidney. The pathway was uncovered by studying genes that were …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
The Genomics Landscape
In the January 2025 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Erin Ramos as the new director of the Division of Genome Sciences (DGSci).
… Innovation Award for her work on health disparities and kidney disease. These awards, given by the National Institute … and familial support are involved in developing kidney disease — especially its more serious forms — among Black adults. End-stage kidney disease, for example, is four-times more prevalent …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… numbness, weakness and vital organ damage. PAN can cause kidney failure, heart attack and stroke. "We now know that … and the National Institute of Diabetes and Digestive and Kidney Diseases, as well as the NIH Clinical Center. NHGRI is …
Staff
Dr. Ours is an Associate Research Physician at the Center for Precision Health Research, NHGRI.
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… of unexpected glomerular disease due to hyposialylation of kidney glycoproteins, leading to severe proteinuria and … N-acetyl-mannosamine (ManNAc) partially rescues the kidney defect, allowing the mutant mice to survive. Dr. …