Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of ...

Cystic fibrosis (CF) is an autosomal recessive condition. This means that a person will have CF only if they receive the affected gene from both parents at conception. Share on Pinterest Dalibor ...

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 ...

In a recent study published in the Journal of Experimental Medicine, researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 ...

Lactose intolerance is a common condition that often has a genetic component that can be inherited. Other cases may result from injuries, medications, or chronic medical conditions. Lactose ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

Researchers from Radboudumc, Department of Human Genetics, demonstrated something remarkable in a 2014 publication in Nature. Contrary to expectations, inherited variants in genes were rarely ...

A hearing test for a newborn baby is routine. And if it reveals a hearing problem, the choice that is presented to those hoping to improve the baby’s hearing is also routine. There are usually two ...