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Educational Resources
Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.
… is a laboratory technique used to locate the position of a disease-associated gene along the chromosome. … Candidate, … is a laboratory approach used to locate the position of a disease-associated gene on a chromosome. Such a strategy can … known about the role of the gene’s encoded protein in the disease. The technique typically relies on the use of known …
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.
… a single gene. The awards will be provided by the National Human Genome Research Institute (NHGRI), part of NIH, and are … researchers have been identifying about 300 Mendelian disease genes each year using a technique called whole-exome …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… and may have their DNA sequenced to detect variations in genes that may underpin their disorders. "The UDN aims to …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… past year, the Intramural Research Program of the National Human Genome Research Institute (NHGRI) has been reorganized. … newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI … joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … CRGGH is now part of the …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… era in genomics research. … Researchers at the National Human Genome Research Institute (NHGRI), part of the National … to sequence. Yet, these repetitive segments include genes and other functional elements that may be relevant to human health and disease. Because a human genome is incredibly long, …
News Release
NHGRI published its “Strategic vision for improving human health at The Forefront of Genomics” in the journal Nature. This vision describes the most compelling research priorities and opportunities in human genomics for the coming decade, signaling a new era in genomics for the Institute and the field.
… … NHGRI's 2020 Strategic Vision describes opportunities in human genomics for improving human health. … The National Human Genome Research Institute (NHGRI), part of the National …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … other autoinflammatory diseases are caused by multiple genes and the environment. Our improved understanding of the … disorders, while also advancing our understanding of the human immune system. However, a large subset of patients have …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and … to document and interpret the non-random distribution of human genetic variation, as well as to understand human history and how it informs disease distribution and …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… the National Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. …
Fact Sheets
Un ratón con genes desactivados es un ratón de laboratorio en el que los investigadores han desactivado, o "noqueado", un gen existente.
… Un ratón con genes desactivados [en inglés, conocidos como "ratones … y físicas observables. … ¿Para qué se usan los ratones con genes desactivados? Dejar fuera la actividad de un gen ofrece … ese gen hace normalmente. Los seres humanos tienen muchos genes en común con los ratones. Por consiguiente, observar …