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 ...
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 ...
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 ...
Scientists have discovered that mutations in the EPG5 gene—known for causing the rare childhood disorder Vici syndrome—also increase the risk of Parkinson’s disease and dementia later in life.
A new gene therapy for the fatal genetic disorder metachromatic leukodystrophy, or MLD, will carry a wholesale price of $4.25 million, its manufacturer announced Wednesday, making it the world’s most ...
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 ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results
Feedback