The genetic roots of a disease or disorder do not always grow into clear-cut, easily diagnosed clinical features. Even if a ...
A "genomic-first" approach to screening for rare genetic disorders—identifying specific genetic variants and then studying ...
Attached to nearly every human cell is an antenna-like structure known as the primary cilium, which senses the cell's ...
WASHINGTON (7News) — Reporter's Notebook: Every year, thousands of infants in America are diagnosed with devastating genetic diseases through newborn screenings. The encouraging news is that many of ...
Researchers announce breakthrough results for AMT-130, the first disease-modifying treatment for Huntington's disease, with ...
Acute hepatic porphyria (AHP) is a rare genetic disease with symptoms that overlap with many other conditions, making it extremely challenging to diagnose. Its symptoms mostly affect women with severe ...
Differences in socioeconomic status (SES) are known to be linked to differences in the risk of developing disease. While people with lower SES are more likely to develop complex diseases such as ...
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