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News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… early treatment along with the potential for reducing pain and suffering experienced by these children and their …
15 Ways Genomics Influences Our World
We are learning how our genomes serve as blueprints for life.
… throughout their lifetimes; they also had higher risks of chronic diseases like diabetes when compared to their … babies were also found to have higher risks for the same chronic diseases. So it seemed like something could be passed …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… complications including the prevalence and severity of chronic kidney disease, short stature, dilated cardiomyopathy … M, McGuire P, Rosing DR, Levin MD, Kopp JB, Venditti CP. Chronic kidney disease in propionic acidemia. Genet Med …
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.
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.