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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 …
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 …
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 …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… form (NESAM or marasmus) which is characterized by chronic wasting, and the edematous form (ESAM, kwashiorkor, …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Williams SGLT2 Inhibitors Attenuate Risk of APOL1-mediated Chronic Kidney Disease 5154W Evan Ying Validation and …
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 …
News Release
NHGRI-funded CSER investigators and colleagues point to need for greater evidence that DNA sequencing helps patients.
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… healthcare team about potential side effects, including pain crisis. …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… ties to non-inflammatory disorders of the cervix and chronic periodontitis, a gum disease. In another study, John …