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 ...

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 ...

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 ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...

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 ...

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