Search Results
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 …
Clinical Research
This study explores how microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis, known as eczema.
… sampling through skin swabs or scrapes hurt? There is no pain. Swabs involve rubbing the skin with a sponge "Q-tip." …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… conditions, including breast cancer, prostate cancer, chronic kidney disease, coronary heart disease, asthma and …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… as fatty liver diseases, hepatocellular carcinoma, asthma, chronic kidney disease and preeclampsia, among others. The …
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 …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… legs. The problems with the lower back can cause back pain leading to difficulty with walking. …
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. …
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 …
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 …