Autism spectrum disorder, also known simply as autism or ASD, is a developmental disorder that can vary widely from one patient to another. It can affect how people behave, socialize, or communicate ...

Neurofibromatosis type 2 is caused by a change in the NF2 gene located on chromosome 22. This gene encodes a protein known as merlin. Mutations in the NF2 gene disrupt the function of merlin, which is ...

All people have two copies of every gene – one copy inherited from each parent. The NF1 gene mutation is dominant, which means that only one of the two copies of the gene needs to have the mutation to ...

The prothrombin gene mutation increases your risk of severe blood clots. Medications, regular checkups, and healthy lifestyle habits can help reduce this risk. The prothrombin gene plays a crucial ...

A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists ...

Scientists have identified a genetic mutation in a gene called SHLP2, which encodes for a microprotein in mitochondria, and can reduce a carrier's likelihood of developing Parkinson's disease by 50 ...

While the genes involved can differ, this example illustrates how most cancers arise. Accumulated DNA mutations, acquired either over time (ageing naturally leads to some DNA mistakes) or from ...

Most lethal mutations in wild fruit flies are driven by newly transferred jumping genes, not small DNA errors, according to a ...

Most common forms of strabismus tend to run in families. But the genetics of strabismus are complex, so it’s not always simple to predict whether a child will inherit the condition. Strabismus is a ...