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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 … be a great resource for understanding human biological function, and will have many practical applications in areas … was supported by the NIH Common Fund and the following NIH grants: R01 DA006227-17, R01 MH090941, R01 MH090951, R01 …
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 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 …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… interplay of silencing elements in regulating active gene expression, Dr. Elnitski developed a system to detect … promoters are now widely accepted as a mechanism of gene regulation. However in 2007, the basic set of genes with … genes, was unknown. Dr. Elnitski's group elucidated this gene collection in several peer-reviewed publications …
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 …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
… systematic characterization of regulatory element function UM1 HG009436 John Lis Haiyuan Yu Cornell University … encyclopedia: linking DNA elements, chromatin state, and gene expression in 3D U01 HG009395 Alkes Price Soumya … for genomics research February 2, 2017  NIH ENCODE grants advance effort to survey entire human instruction book …
News Release
NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.
… Zisk … The project will increase our understanding of how gene expression is regulated over time. … Eleven years ago, … of high-quality tissue samples and information on gene expression — important resources that scientists needed … differences in our genes directly affect the makeup and function of our bodies. In response to this realization, they …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… … Understanding more about diseases caused by a single gene (using genetics) and complex diseases caused by multiple … and will be clones of the common ancestor bacterial cell. Gene cloning involves manipulations to make multiple identical copies of a single gene from the same ancestor gene. Cloning an organism means …
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 …
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 …