Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… researchers have played key roles in a number of important gene discoveries, including the identification of genes … mouse with hereditary inclusion body myopathy, developing gene therapy approaches for X-linked severe combined … Genetic Condition, Rare Disease, Undiagnosed Disease, Gene Mutation, Gene Variation, DNA Sequencing, Clinical …
Educational Resources
A first degree relative is a family member who shares about 50 percent of their genes with a particular individual in a family.
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… loop. These neighborhoods bring distant genes and specific gene control switches into close proximity. Genetic … merge in brain tumor cells. Researchers found that one gene came under the control of a gene control switch from a different genetic neighborhood, …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… National Institutes of Health researchers have identified gene variants that cause a rare syndrome of sporadic fevers, … that identified an overlapping set of variants of the same gene in patients with a similar type of blood vessel … The researchers found that harmful variants in the CECR1 gene impede production of a protein vital to the integrity of …
Health FAQ
Discuss these questions with your doctor or health care provider.
… welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … They are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to use … … Eligibility criteria may be different for each available gene therapies, including clinical trials. However, there are …
Educational Resources
Gregor Mendel was an Austrian monk who in the 19th century worked out the basic laws of inheritance, even before the term "gene" had been coined.
… out the basic laws of inheritance, even before the term "gene" had been coined. … Gregor Mendel, Genes, Human … out the basic laws of inheritance, even before the term "gene" had been coined. … Educational Resources …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… the information needed to build the entire human body. A gene traditionally refers to the unit of DNA that carries the … Specifically, an enzyme copies the information in a gene's DNA into a molecule called messenger ribonucleic acid … of all the bases in a large piece of DNA such as a gene, researchers need to read the sequence of overlapping …
Educational Resources
LOD stands for "logarithm of the odds." In genetics, the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a chromosome.
… score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a … probability that two loci (e.g., a disease-associated gene and another sequence of interest, such as a variant or …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… unlike some illnesses, which are determined by a single gene, ADHD is not easily pinned down. Many common but subtle …
Fact Sheet
Sickle cell disease resources for patients
… welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … They are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to use … (handout)  American Society of Hematology (ASH)  … Gene Therapy and Sickle Cell Disease (video)  American …