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News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… inherited, and typically caused by a mutation in a single gene. So far, researchers have identified the genomic causes … the program's progress and the breadth of Mendelian gene discovery to date. The authors also ruminated on the … disease. "Knowing that there is a relationship between a gene and a disease has enabled us to probe the development …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
… to identify and characterize their functional roles in gene regulation. "A key challenge in ENCODE is that … to turn genes on or off, or tune the exact levels of gene activity, help drive the formation of distinct cell … has benefited from and built upon decades of research on gene regulation performed by independent researchers around …
Talking Glossary
LOH (short for “loss of heterozygosity”) refers to a type of mutation that results in the loss of one copy of a segment of DNA (typically containing a gene or group of genes).
… of one copy of a segment of DNA (typically containing a gene or group of genes). … LOH (short for “loss of … of one copy of a segment of DNA (typically containing a gene or group of genes). For most parts of the genome, human … of one copy of a segment of DNA (typically containing a gene or group of genes). … Talking Glossary …
Educational Resources
Antisense is the non-coding DNA strand of a gene.
… Antisense … Antisense is the non-coding DNA strand of a gene. … Non-coding DNA, Messenger RNA, Protein Synthesis … Antisense is the non-coding DNA strand of a gene. In a cell, antisense DNA serves as the template for … a protein. … Antisense is the non-coding DNA strand of a gene. … Educational Resources …
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 …
Educational Resources
Genomic variation refers to diversity in gene frequencies.
… Variation … Genomic variation refers to diversity in gene frequencies. … Genetic Variation, Genetic Testing, … effects. … Genomic variation refers to diversity in gene frequencies. … Educational Resources …
Talking Glossary
Intergenic regions are the stretches of DNA located between genes.
The Genomics Landscape
In the April 2020 edition of The Genomics Landscape, NHGRI Director Eric Green provides an update on the final stage of the Genomics2020 strategic planning process; the NIH website for COVID-19 information, the Gene documentary debut on PBS and more.
… below, the two-part documentary, “Ken Burns Presents The Gene: An Intimate History ,” will debut on PBS stations on … with the new PBS documentary, “Ken Burns Presents The Gene: An Intimate History ,” based on the book by Siddhartha … begins Genomic study points to natural origin of COVID-19 Gene mutation enhances cognitive flexibility in mice, NIH …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis. … In a sun-lit … after Jojo attended the last tea party, she received gene therapy for her rare disorder, GM1 gangliosidosis. … … disorder caused by alterations in the DNA of a single gene, the GLB1 gene. The GLB1 gene makes an important enzyme …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… between diabetes and previously unlinked ZRANB3 gene. … National Institute of Health researchers have … confirmed known genomic variants and identified a novel gene ZRANB3 , which may influence susceptibility to the disease in sub-Saharan African populations. The gene could also influence the development of T2D in other …