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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. … Step 6: Manufacturing and processing Your …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
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. 
… Williams SGLT2 Inhibitors Attenuate Risk of APOL1-mediated Chronic Kidney Disease 5154W Evan Ying Validation and …
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. …
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.