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Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… variants and genes underlying Mendelian disorders. … The discovery of the genes and genetic variants that underlie … previous methods such as linkage mapping and candidate gene approaches. The CMGs aim to make major contributions to … ​ … Genetic Disorders, Genome Sequencing, Dna Sequencing, Gene Variants, Genomic Variant, Mendelian Disorders … The …
Educational Resources
Mapping is the process of making a representative diagram cataloging the genes and other features of a chromosome and showing their relative locations.
Educational Resources
A copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next.
… (CNV) is when the number of copies of a particular gene varies from one individual to the next. … Chromosomes, Disease, DNA, Gene Variation … Copy number variation (abbreviated CNV) … stretches of DNA. Such regions may or may not contain a gene(s). … A copy number variation (CNV) is when the number …
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, … strokes, beginning early in childhood. The team's discovery coincides with findings by an Israeli research … that identified an overlapping set of variants of the same gene in patients with a similar type of blood vessel …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… form of muscular dystrophy caused by a mutation in the DMD gene. … DMD is a rapidly progressive form of muscular … in boys. It is caused by an alteration (mutation) in a gene, called the DMD gene that can be inherited in families in an X-linked …
Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.
Educational Resources
A marker is a DNA sequence with a known physical location on a chromosome. Markers can help link an inherited disease with the responsible genes.
… with the responsible genes. … Marker, DNA Sequence, Gene, Inheritance … A marker (largely synonymous with the …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
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 …
News Release
April 25, 2023 marks the 20th anniversary of the completion of the Human Genome Project and the 70th anniversary of the discovery of DNA’s double-helical structure, milestones being celebrated as part of National DNA Day.
… DNA Day commemorates Human Genome Project’s completion and discovery of DNA’s double-helical structure. … Today marks … the Human Genome Project and the 70th anniversary of the discovery of DNA’s double-helical structure, milestones being … the Human Genome Project and the 70th anniversary of the discovery of DNA’s double-helical structure, milestones being …