In rare diseases, rare mutations have long been thought of as the only contributor. Genetic analyses of people with such conditions now suggest that the effects of common genetic variants can stack up ...

Rare telomere and non-telomere genetic variants significantly affect survival in IPF patients, with non-additive effects on common risk variants. Polygenic risk scores (PRS-IPF) may play a crucial ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

By Hugo Francisco de Souza Rare genetic variants in a little-studied nicotine receptor subunit are linked to markedly lower ...

Epilepsy is not one disease. It is a constellation of seizure disorders that affects approximately 50 million people globally and carries increased mortality, psychiatric comorbidity, and, for roughly ...

Telomeres — the protective caps at the ends of chromosomes — function like molecular clocks, shortening as cells divide and age. When they become too short, cells stop replicating, accelerating aging ...

Sequencing nearly half a million genomes, researchers show that most additive genetic influences on height, lipids, and other complex traits are now directly measurable, while pinpointing ultra-rare ...

Scientists have found that a special component in some people's blood provides them with natural protection against malaria. A recent study has demonstrated that a genetic variant named rs112233623-T ...

Misdiagnosis or underdiagnosis of rare diseases in patients with diagnoses of common diseases can lead to delayed or inappropriate treatments, thereby complicating the management of both rare and ...