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 ...

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 exact cause of personality disorders is unclear. However, genetics, neurological differences, and environmental factors may contribute to the development of these complex mental health conditions.

Niemann-Pick disease is a group of rare genetic diseases that cause the buildup of fatty substances in your body. Type C can develop at any time between infancy and adulthood. Niemann-Pick disease ...

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 ...

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 ...

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