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

February is Rare Disease Month, an annual effort to highlight the challenges families can face while navigating rare ...

Congenital heart disease (CHD) affects approximately 1% of live births. Thanks to surgical advancements, infants born with ...

From understanding hereditary diseases to predicting drug responses, sequencing helps researchers uncover the subtle language ...

Worryingly low levels of genetic diversity make Scotland’s red squirrels especially vulnerable to disease, a study has shown.

The UMass Chan Medical School in Worcester announced Thursday it received a $35 million gift that aims to advance research to ...

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 ...

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 ...

Biomedical engineers at Duke University have demonstrated a promising new approach that could be used to treat a rare and complex class of genetic diseases caused by defects in a relatively large ...

Explore the genetic findings in 527 rare bleeding disorder cases, presented at EAHAD 2024, shedding light on novel variants.

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