A team led by University of Pittsburgh School of Public Health geneticists has shown, for the first time, that a gene "silencer" that resides in junk DNA is directly sparing people from a devastating ...

The root causes of most forms of Alzheimer's disease largely remain a mystery. Now, researchers have revealed a new piece of the puzzle.

A combination of human pedigree analysis and fruit fly genetics has identified a gene variant that appears to prevent PIGA-CDG, a rare but serious seizure disorder. The findings could ultimately lead ...

Robert F. Kennedy Jr. has questioned why autism rates have been rising over the last several years. Experts say he's missing nuance in these conversations.

Biomedical engineers at Duke University have demonstrated a promising new approach that could be used to treat a rare and ...

Gene therapy represents a paradigm shift in modern medicine, offering unprecedented opportunities to combat diseases at their ...

A new UCLA Health study has discovered in mouse models that genes associated with repairing mismatched DNA are critical in eliciting damages to neurons that are most vulnerable in Huntington's disease ...

What makes the human brain unique? A Yale study unlocks new insights into genetic changes that shaped our evolution.

Duchenne muscular dystrophy (DMD) is a rare hereditary disease that is associated with progressive muscle wasting. The ...

In honor of Rare Disease Day on February 28, 2025, we will publish a series of posts throughout the month on As Prescribed ...