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News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Gaucher disease, by cross-breeding mice to carry human mutations causing each of the two diseases. They published … A single mutation in the Gaucher disease gene, GBA1, is frequently found in patients who have … have found it difficult to understand the role of GBA1 mutations in the seemingly unrelated Parkinson's disease, …
Educational Resources
The instructions in a gene that tell the cell how to make a specific protein.
… The instructions in a gene that tell the cell how to make a specific protein. … Genetic code refers to the instructions contained in a gene that tell a cell how to make a specific protein. Each gene’s code uses the four nucleotide bases of DNA: adenine … The instructions in a gene that tell the cell how to make a specific protein. …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… A new study highlights how genomic mutations that cause mitochondrial disease may also … T-cells play important roles in human immune response. The mutations resulted in an increased risk of infection and … Mutations Reduce Protective Immunity … A new study highlights how genomic mutations that cause mitochondrial disease may also …
Educational Resources
A polygenic trait is one whose phenotype is influenced by more than one gene.
… is one whose phenotype is influenced by more than one gene. … Gene, Genotype, Inherited, Mendelian Inheritance, Phenotype, … is one whose phenotype is influenced by more than one gene. …
Educational Resources
Heterozygous refers to having inherited different forms of a particular gene from each parent.
… refers to having inherited different forms of a particular gene from each parent. … Heterozygous, Homozygous, Gene, Family Health History, Mutation …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… common in other populations. A mutation in the factor V gene (F5) increases the risk of developing factor V Leiden … individuals. There are some individuals who have the F5 gene and who never develop thrombosis, while others have … This variability is influenced by the number of F5 gene mutations a person has, the presence of other gene …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… studying a family with a rare disease encounter DNA mutations or variants that appear to be responsible - only to … focus on several key areas, such as study design, gene- and variant-level implication, databases and implications for diagnosis. Gene-level implication refers to finding evidence that an …
Educational Resources
A physical map of a chromosome or a genome that shows the physical locations of genes and other DNA sequences of interest.
… Chromosome, Gene, Deoxyribonucleic Acid (DNA), Positional Cloning …
Educational Resources
A locus is the specific physical location of a gene or other DNA sequence on a chromosome, like a genetic street address.
… A locus is the specific physical location of a gene or other DNA sequence on a chromosome, like a genetic … Locus, Allele, DNA Polymorphism, Gene, Chromosome … is a physical site or location within a genome (such as a gene or another DNA segment of interest), somewhat like a …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
… actions you may want to take as you think about receiving gene therapy. …  There are many unknowns about what to expect from gene therapy. Your thoughts, feelings, beliefs and attitudes … care for your mental and physical health as you consider a gene therapy clinical trial.  Focus on your thoughts and …