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A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses.
… infection by viruses. … Mutation, DNA Sequence, Germ Line, Gene … A mutation is a change in the DNA sequence of an …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… Our investigators and their research teams develop gene addition therapy and gene editing approaches to treat metabolic disorders, study …
Educational Resources
In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene.
… Genetic Imprinting … In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene. … Genetic Imprinting, DNA Sequence, Genes, Family Health History, Genealogy, Gene Expression … Genomic imprinting is the process by which …
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… differences in an individual's genomic make-up can affect gene activity and contribute to disease. The new resource … It gives us unique insights into how people differ in gene expression in tissues and organs." NIH launched the GTEx … that a variant that affects the activity of two genes associated with blood pressure had a stronger effect on gene …
News Release
NIH researchers identified a novel role for a gene known as heat shock protein 60, finding it is critical in tissue regeneration and wound healing.
… of Health researchers have identified a novel role for a gene known as heat shock protein 60 ( Hsp60 ), finding that … "This study proposes an unusual role for a well-known gene," said Shawn Burgess, Ph.D., head of NHGRI's … today in the journal npj Regenerative Medicine . "This gene is found in every organism from bacteria to man. We have …
Fact Sheet
Early in the COVID-19 pandemic, researchers used state-of-the-art genomic sequencers to quickly sequence the SARS-CoV-2 virus.
… genomic sequencers to quickly sequence the SARS-CoV-2 virus. This sequence was quickly shared with other … allowed researchers from across the globe to analyze the virus and better understand how it causes disease. The speed … bioinformatics approaches, they selected the spike protein gene as their vaccine candidate. The spike protein is …
Talking Glossary
Un retrovirus es un virus que utiliza ARN como material genómico.
… Retrovirus … Un retrovirus es un virus que utiliza ARN como material genómico. … A retrovirus is a virus that uses RNA as its genomic material. Upon infection … which infect other cells. Many retroviruses are associated with diseases, including AIDS and some forms of …
Policy Issues
Most ethical discussions about genome editing center on human germline editing because changes are passed down to future generations.
… attempted at this time, but that studies that would make gene therapy  safe and effective should continue. 1 , 2  Most … in December 2015 with the International Summit on Human Gene Editing  in Washington, DC. For more information on this …
Educational Resources
A genotype is an individual's collection of genes.
… BB, Bb, bb could be used to represent a given variant in a gene. Genotypes can also be represented by the actual DNA …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… help researchers identify the genetic causes of single-gene diseases. Over 400 million people worldwide have been … generally thought to be caused by mutations in a single gene. The awards will be provided by the National Human … research community to perform more robust Mendelian gene discovery projects. The new clinical centers will be led …