The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces -- short reads. Scientists found ...

Researchers have carried out the most extensive and varied investigation to date regarding the role that recessive genetic alterations play in developmental disorders. Their findings, which indicate ...

Rare genetic disorders affect more than 300 million people worldwide, with children making up 70% of those impacted, according to EURORDIS. These conditions often go undiagnosed for years due to ...

While the exact cause of migraine is unknown, it’s thought to be caused by a combination of factors, including genetics. Migraine is a chronic neurological disorder that causes intense, throbbing ...

The present theory offers a unified solution to three closely related evolutionary problems. (1) Why does an evolving population explore only a small fraction of the accessible pathways in genotype ...

A treatment that is effective against hearing loss caused by the 'MPZL2 gene' mutation has been developed. A research team ...

Humans were isolated in southern Africa for about 100,000 years, which caused them to "fall outside the range of genetic variation" seen in modern-day people, a new genetic study reveals. The finding ...

The processes that give rise to species richness gradients are not well understood, but may be linked to resource-based limits on the number of species a region can support. Ecological limits placed ...

A high red blood cell count can occur for many reasons, including excessive cell production, changes in blood volume, or underlying medical conditions. Sometimes, the cause is unknown. Erythrocytes, ...