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Educational Resources
Epistasis is a circumstance where the expression of one gene is affected by the expression of one or more independently inherited genes.
… … Epistasis is a circumstance where the expression of one gene is affected by the expression of one or more independently inherited genes. … Gene Expression, Gene Variation, DNA, Genes … Epistasis is a circumstance …
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
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… contribute to changes to the DNA sequence, also known as mutations. Imagine fishing tiles out of the bag in a Scrabble … a football field). While it’s always challenging to find mutations, tinier genomes are easier to scan for differences … In some of the mice, the researchers manipulated one gene to make it harder to absorb vitamin B12, mimicking a …
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 … while the other copy is suppressed. Unlike genomic mutations that can affect the ability of inherited genes to …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… international team of researchers has identified genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very … determined that CFZS is caused by mutations in the gene MYMK that encodes for the protein myomaker. This protein … harboring mutations identified in each family, only the gene MYMK was common to all three. A knockout mouse model …
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 … for scientists to study how genomic variants may affect gene activity and disease susceptibility. Investigators are …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… Prabarna Ganguly, Ph.D. … Study shows mutations in inflammation-related genes are associated with … that the syndrome is caused by mutations in a single gene, they considered the possibility that multiple genes are … symptom – canker sores. The group looked into whether the gene variants known to be associated with those diseases were …
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 …
Educational Resources
Dominant refers to the relationship between two versions of a gene.
… refers to the relationship between two versions of a gene. … Dominant, Recessive, Alleles, Family Health History, … refers to the relationship between two versions of a gene. Individuals receive two versions of each gene, known as alleles, from each parent. If the alleles of a …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… cells to reduce your symptoms of sickle cell disease.  Gene therapies use your own stem cells, while bone marrow transplants use the stem cells of a matched donor. Gene therapy  In gene therapy , your stem cells are changed by altering part …