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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 …
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 …
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 another gene) are located near each other on a chromosome and 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. … out the basic laws of inheritance, even before the term "gene" had been coined. …
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 … Gene Therapy and Sickle Cell Disease (video)  American …
Educational Resources
Antisense is the non-coding DNA strand of a gene.
… Antisense is the non-coding DNA strand of a gene. … Antisense is the non-coding DNA strand of a gene. In a cell, antisense DNA serves as the template for … Antisense is the non-coding DNA strand of a gene. …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… inherited, and typically caused by a mutation in a single gene. So far, researchers have identified the genomic causes … the program's progress and the breadth of Mendelian gene discovery to date. The authors also ruminated on the … disease. "Knowing that there is a relationship between a gene and a disease has enabled us to probe the development …