Search Results
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, …
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 …
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 …
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 …