Mitochondrial diseases affect approximately 1 in 5,000 people worldwide, causing debilitating symptoms ranging from muscle weakness to stroke-like episodes.

Scientists found a compound that appears to counter common mutations behind POLG-related diseases, rare conditions that harm ...

A genetic mutation and evolutionary trick fuels horses' exceptional athleticism, findings that may advance scientific ...

Researchers have pinpointed a genetic mutation and evolutionary process that appears to have optimized horses’ speed and ...

Artificial intelligence (AI)-powered protein models combined with genome sequencing technology could help scientists better ...

It was not until she turned one in 2021 that she was officially diagnosed with PIK3CA-Related Overgrowth Spectrum (Pros), which is a group of conditions caused by a gene mutation that affects one ...

Some clinical trials for treatments that nip Alzheimer’s disease in the bud rely on recruiting carriers of autosomal-dominant mutations who will develop Alzheimer’s disease in a predictable fashion.