Search Results
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 therapies for a host of … Now, in the second phase of the Human Microbiome Project, three research teams funded by the … pregnancy and preterm birth, onset of inflammatory bowel disease and onset of type 2 diabetes. Importantly, as with …
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 … geography (e.g., diabetes, hypertension, heart and kidney disease, scleroderma and podoconiosis). MCIDGB researchers … to document and interpret the non-random distribution of human genetic variation, as well as to understand human …
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 … disorders, while also advancing our understanding of the human immune system. However, a large subset of patients have clinical features of autoinflammatory disease without a good explanation. Our goal is to discover …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these … by researchers at or associated with the National Human Genome Research Institute (NHGRI). … A genetic disorder is a disease caused in whole or in part by a change in the DNA … that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are …
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 …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… The use of human participants in biomedical, clinical and … or other methods. All federally-funded research with human participants such as that supported by NIH must comply … All research with human participants supported by the United States government, … is subject to the Federal Policy for the Protection of Human Research Subjects, or 'Common Rule' ( Code of Federal …
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 …
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 … ¿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 …
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.
… 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
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. … Advancing Knowledge of Human Genomic Variation A special issue of Human Mutation , … about gene variants and their connections to health and disease. These experts then determine what each variant might …