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 ...

Gregor Mendel’s studies of inheritance patterns in pea plants helped shape researchers’ understanding of single-gene diseases, which can run in families. Some of the diseases that follow a Mendelian ...

One in 10 Americans live with a rare disease, which often lack effective treatments. Such is the case for PIGA-CDG, an ultra-rare genetic disease that causes seizures and developmental delays.