Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… her neurons. At the time, no one knew. Jojo inherited the genes for GM1 gangliosidosis from her mother and father. … try to take over their micro-world by delivering their genes to the host and replicating themselves. Viral … be harnessed to do the same work, except deliver helpful genes? Sena-Esteves attempted exactly that by removing the …
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.
… passed on the gene. … Genetic Imprinting, DNA Sequence, Genes, Family Health History, Genealogy, Gene Expression … … genomic mutations that can affect the ability of inherited genes to be expressed, genomic imprinting does not affect the … egg or sperm formation. Epigenetic tags on imprinted genes usually stay in place for the life of the individual. … …
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.
… in the DNA code - control how, when and how much genes are turned on and off in different tissues, and can … individuals in order to understand the causal effects of genes and variants, and which tissues contribute to … a kidney cell different from a liver cell is the set of genes that are turned on (expressed) and off over time and …
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
… four different chemicals, organized into 20,000 to 25,000 genes. For the instructions to be carried out, DNA must be … the world-the Mammalian Gene Collection initiative and the Mouse Transcriptome Project. The Mammalian Gene Collection … initiative built a free, public library of human, mouse, and rat mRNA sequences. The project was led by NHGRI …
Educational Resources
A genotype is an individual's collection of genes.
… Genotype … A genotype is an individual's collection of genes. … Genotype, Genes, DNA Sequence, Phenotype … A genotype is a scoring of … phenotype. … A genotype is an individual's collection of genes. … Educational Resources …
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.
… have been identifying about 300 Mendelian disease genes each year using a technique called whole-exome … sequencing has not been successful in identifying the genes responsible for many Mendelian diseases, requiring new … find innovative methods to increase the rate at which the genes responsible for all Mendelian diseases can be …
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).
… in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions are … another. Genomics describes the study of all of a person's genes (the genome). … Genetics is a term that refers to the study of genes and their roles in inheritance - in other words, the …
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.
… scientists needed to understand how differences in our genes directly affect the makeup and function of our bodies. … “We hope this project will lend more insight into how our genes are expressed at each stage in our lives.” Multiple … We hope this project will lend more insight into how our genes are expressed at each stage in our lives. “It’s tragic …
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.
… Ph.D. … Study shows mutations in inflammation-related genes are associated with PFAPA syndrome … Researchers at the … fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA … single gene, they considered the possibility that multiple genes are involved. During her clinical fellowship at …