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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 … disease is an example of an autosomal dominant genetic disorder. …
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. … It is present at birth in 1 in 400 to 1 in 1,000 babies, and it affects approximately 400,000 people in the United …
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. … when scientists have isolated a small portion of a gene and want to determine on which chromosome the gene is …
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. …
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 … Osteogenesis imperfecta (OI) 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 …
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 …
Educational Resources
Insertion is a type of mutation involving the addition of genetic material.
… Insertion is a type of mutation involving the addition of genetic material. … DNA Sequence, Base Pairs, Genetic Mutation …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in … sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas, which stops digestive enzymes from … acts as a channel that allows cells to release chloride and other ions. But in people with CF, this protein is …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of humans and … of the branch is to demonstrate that research findings and opportunities derived from genetic and genomic technologies may be translated into …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… need to create more DNA if you're going to make new cells, and you need to create more RNA for those cells to do their … for the work of cells.” Vitamins like vitamin B12 and folate are linked to creating the building blocks of DNA … contribute to changes to the DNA sequence, also known as mutations. Imagine fishing tiles out of the bag in a Scrabble …