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News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… will be providing DNA sequencing for the Undiagnosed Diseases Network (UDN). Each site will receive more than $2.5 … Christine M. Eng, M.D., professor of molecular and human genetics and medical director of the DNA Diagnostic … Genome sequencing for patients from the NIH Undiagnosed Diseases Program (UDP) has identified individual variation in …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… studies the genomic and social determinants of complex diseases. … Investigators focus, in particular, on diseases that are disproportionately distributed by ethnicity … 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.
… Autoinflammatory diseases are a group of disorders characterized by seemingly … T-cells that are characteristic of autoimmune diseases. Some autoinflammatory diseases have been shown to … disorders, while also advancing our understanding of the human immune system. However, a large subset of patients have …
News Release
A new method of targeting specific DNA sequences in zebrafish could accelerate the discovery of gene function and the identification of disease genes in humans.
… genes in humans, according to scientists at the National Human Genome Research Institute (NHGRI), part of the National … in an animal model could be particularly useful for human genomic research. Only 10 to 20 percent of recognized … to advances in our understanding of cancer and other human diseases," said NHGRI Director Eric Green, M.D., Ph.D. "We …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… The Undiagnosed Diseases Network (UDN), a clinical research initiative of the … diagnose despite extensive clinical investigation. These diseases are difficult for doctors to diagnose because they … been described or are unrecognized forms of more common diseases. …
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 … have produced the first end-to-end DNA sequence of a human chromosome. The results, published today in the journal … sequence first, due to its link with a myriad of diseases , including hemophilia, chronic granulomatous …
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. …
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 … this week published its “ Strategic vision for improving human health at The Forefront of Genomics ” in the journal …
Media Advisory
The NIH-funded Integrative Human Microbiome Project presented at the International Human Microbiome Congress.
… the National Institutes of Health (NIH)-funded Integrative Human Microbiome Project (iHMP), which is coordinated by the National Human Genome Research Institute (NHGRI), will present findings at the 5th International Human Microbiome Congress. … the National Institutes of Health (NIH)-funded Integrative Human Microbiome Project (iHMP), which is coordinated by the …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.