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Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… characterized by the growth of numerous cysts in both kidneys. The progressive expansion of PKD cysts slowly replaces much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney … characterized by the growth of numerous cysts in both kidneys. The cysts are filled with fluid. The progressive …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… is a greater risk for developing kidney disease. As the kidneys are slowly damaged over time, they are unable to …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
Staff
Dr. Sharon Milgram is an adjunct investigator in the Genetics and Molecular Biology Branch at the National Human Genome Research Institute.
… Sharon L. Milgram, Ph.D. … Sharon Milgram, cell signaling, kidneys, gastrointestinal tract … Sharon Milgram, cell signaling, kidneys, gastrointestinal tract … Dr. Sharon Milgram is an …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
Profile
Reflecting on his NIH career, Dr. Smith recounts his journey from researcher to program director in a conversation with NHGRI science writer Sonja Soo, Ph.D. He looks ahead to a retirement filled with traveling, spending time with friends and family, playing pickleball and brewing ale.
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.