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For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… and rare diseases ​ … Genetic Disease, Rare Disease, Gene Therapy, Diagnosing A Disease, DNA Sequence, Genome Sequence, …
Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.
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 …
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 …
For Teachers
Tools and resources for teaching the concepts of transcription and translation, two key steps in gene expression
… of transcription and translation, two key steps in gene expression . … Transcription is the process of making an RNA copy of a gene sequence. This copy, called a messenger RNA (mRNA) … the relationship between the sequence of base pairs in a gene and the corresponding amino acid sequence that it …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… 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 …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… their collaborators have identified mutations in the TAF1 gene. They've also demonstrated that the mutation profiles of … CCEC patients. They also uncovered mutations in the TAF1 gene, a gene that had not been previously implicated in CCEC. TAF1 …
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, …