Search Results
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… experience significant damage to their heart, lungs, and kidneys. …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… RNA profiling of genes expressed in the mutant mouse kidneys has identified novel MMA-associated renal biomarkers …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… infection; low calcium levels; differences in the way the kidneys are formed or work; a characteristic facial … the body to fight infections; differences in the way the kidneys are formed or how they work; weak muscles; …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… and anemia as well as damage to their hearts, lungs and kidneys. Some common themes emerged from the 15 focus groups. …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.