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Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
… actions you may want to take as you think about receiving gene therapy. …  There are many unknowns about what to expect from gene therapy. Your thoughts, feelings, beliefs and attitudes … care for your mental and physical health as you consider a gene therapy clinical trial.  Focus on your thoughts and …
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 …
Staff
Rebecca Hong is a scientific program analyst in the Policy and Program Analysis Branch at the National Human Genome Research Institute.
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… genomic technology, legislation, AIDS research, genome editing … Rebecca Hong, genomic policy, FDA regulation, … genomic technology, legislation, AIDS research, genome editing … Rebecca Hong is a scientific program analyst in 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 …
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
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 …