These are diseases like cystic fibrosis or sickle cell anaemia that are caused by a mutation in a single gene and are passed along through generations in a simple inheritance pattern.

In this study, the rare disorder picked to evaluate the strategy in unrelated, affected individuals was Freeman-Sheldon syndrome.

'The genetics of thousands of rare diseases remains unsolved because sufficient numbers of families with individuals affected by those disorders are not easily available. Even with such families, mapping and identifying the causative gene can take many years,' said Shendure.

The study was published in Nature.