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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 …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… differ and other treatment options for sickle cell disease, such as bone marrow transplant. Each of these … treatment approaches aim to modify the severity of the disease. Learn more about your red blood cells to help you … , your stem cells are changed by altering part of your genes. Types of gene therapy include gene addition and gene …
News Release
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
… tens of thousands of microbial species that live in or on human beings - the human microbiome - they would find … pregnancy and preterm birth, onset of inflammatory bowel disease and onset of type 2 diabetes. Importantly, as with … judging from the array of common functions of bacterial genes, if the bacteria are healthy, each individual's …
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 …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … … NIH awards $50.3 million for “multi-omics” research on human health and disease September 12, 2023 … Multi-Omics for … … NCI … NIEHS … Contributing NIH Institutes: National Human Genome Research Institute (NHGRI) National Cancer …
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 …
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
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. …
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 …
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, …