Rare Gene Mutations Might Be Causing More Diseases Than We Think

GIZMODO | Ed Cara

Diseases caused by a single gene might be more common than we think, a new study says.Illustration: Nogas1974 (Wikimedia Commons)

The destructive shadow sometimes cast by our genes extends even longer than we assumed, a new study published recently in Science suggests. Rare, undetected gene mutations may help explain some people’s common conditions like kidney damage, heart failure, and infertility.

We typically think our genes can harm us in one of two broad ways. Certain combinations of genes can collectively raise our risk for conditions like obesity and autism, when combined with other factors like our lifestyle or early environment. Or more classically, a disease is thought to be clearly caused by a single wayward mutation in either one or both copies of a gene (one copy of every gene is usually passed down from each parent). These diseases, like cystic fibrosis or sickle cell anemia, are known as Mendelian disorders.

But the researchers behind this new study say their findings upturn this popular narrative, while also suggesting that many people’s health problems brought on by single-gene mutations are getting misdiagnosed. Continue reading 
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