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News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… to treat arthritis, eczema, ulcerative colitis and other chronic inflammatory diseases. “The findings of this study …
Research at NHGRI
The goal of our Caregiving Study is to understand how caregivers manage the demands of caring for a loved one with a long-term health condition and how social relationships affect caregivers' ability to cope.
… Koehly LM. The impact of caregiving for children with chronic conditions on the HPA axis: A scoping review . Front …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… treated early and aggressively to prevent hearing loss and chronic infections. Low thyroid levels are more common in …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… bacterium. This bacterium is the most common cause of chronic and fatal lung infections for people with CF. …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… News NIH Funds Clinical Trials to Use Genomics in Treating Chronic Diseases New ASHG Strategic Plan Time to End the …
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
News Release
NHGRI-funded CSER investigators and colleagues point to need for greater evidence that DNA sequencing helps patients.
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.
… its link with a myriad of diseases , including hemophilia, chronic granulomatous disease and Duchenne muscular …
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… was specifically designed to treat a blood cancer called chronic myeloid leukemia (CML). CML occurs because of a …