New genetic defect identified by researchers - Folkhälsan

04 June 2018

New genetic defect identified by researchers

Researchers have identified a previously unknown genetic defect that causes congenital eye disease and blindness in dogs.

The mechanism by which the faulty gene is expressed was also unknown.

Developmental disorders and disease occur only if both puppy and mother share the same congenital genetic abnormality. The researchers believe that defects of this type may be behind more developmental disorders than is commonly thought.

Dogs and humans have many similar diseases with the same genetic background, and this sort of research sheds new light on the corresponding developmental diseases in humans.

The research team was led by Professor Hannes Lohi and is an international collaboration between the University of Helsinki, UC Davis and the University of Jyväskylä. Lohi heads a group of researchers at the Folkhälsans research center that focuses on hereditary diseases in cats and dogs.

Read more here in Finnish and here in English.

Here is a link to the article in the scientific journal Cell, which has a dog on its cover in honour of the discovery!