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News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… track growth and appearance. Ultrasound of the abdomen (kidneys, liver, spleen etc). Hand x-ray to determine bone …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
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.
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
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; …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.