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Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… reactions are responsible for the breakdown of nutrients and the generation of energy in our bodies. Inborn errors of … are the different forms inherited? The IEM are caused by mutations (or alterations) in the genes that tell our cells … but they may also occur spontaneously. When discussing how genetic conditions are passed on in a family, it is important …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … A … in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important … their findings may provide new clues to underlying genetic and biochemical influences in the development of stroke and …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually … non-carriers. DNA-based carrier testing looks for specific mutations or changes in the gene that codes for Hex-A. Since …
Fact Sheets
Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cell.
… (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cells, including specific … a variety of chromosomal abnormalities and other genetic mutations. … FISH is useful, for example, to help a …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… is a pattern of inheritance characteristic of some genetic diseases. … Trait, Inherit, Genetic Diseases, Chromosomes, Mutation, Recessive, Dominant … is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
… have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the … have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the … as making human insulin, producing fermented beverages and developing pesticide resistance in crop plants. … GMO …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous … slowly replaces much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney failure. … … of individuals who have ADPKD. A genetic test can detect mutations in the PKD1 and PKD2 genes, the genes that, when …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break … OI also have teeth problems (dentinogenesis imperfecta), and hearing loss when they are adults. People who have OI may … (connective tissues). OI type VII is caused by recessive mutations in the CRTAP gene. … Osteogenesis imperfecta (OI) …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. … Neurofibromatosis (NF) is a genetic neurological … disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's …