Brussels, 9th December 2010
Innovation Union/Research: progress on tackling a human disease thanks to EU-funded study of illness in pet dogs
An EU-funded research team has discovered a new gene responsible for the development of a human respiratory disease thanks to the study of the same illness naturally occurring in pet dogs. This rare genetic disease, primary ciliary dyskinesis (PCD), affects one in 20.000 people and causes chronic respiratory infections. The discovery was made by the LUPA project which aims to improve our understanding of the genetic origin of a wide range of human diseases, by collecting and comparing DNA samples from purebred dogs that are healthy or affected by similar diseases as humans. The study on PCD was led by the University of Liège in Belgium, which is also coordinator of the overall project. The LUPA project is receiving €12 million from the EU's Seventh Research Framework Programme and involves 22 partners from 12 European countries: Belgium, Germany, Denmark, Spain, France, Ireland, Netherlands, Finland, Sweden, UK, Norway and Switzerland (see Annex for full list).
Máire Geoghegan-Quinn, Commissioner for Research, Innovation and Science said: "This shows that pet dogs are not only man's best friend but also suffer from many of the same illnesses and can help us understand and treat those illnesses. I congratulate all those involved in this study. LUPA is an excellent example of innovative and ground-breaking health research that will benefit both humans and dogs and advance medical knowledge."
Progress on tackling primary ciliary dyskinesis
The discovery sheds light on the mechanisms underlying the development of primary ciliary dyskinesis. Several mutations in about 10 genes were known to be responsible for the disease. Researchers of the LUPA project identified 15 other mutations in gene CCDC39 which explain at least 5 % of all PCD in the world. This will allow better genetic counselling for affected families and improve the diagnosis of affected people with clinical symptoms. This is also a very encouraging sign for the wider ambitions of the LUPA project, which ultimately aims to gain more insight into at least 18 human illnesses including cancer, heart diseases, epilepsy and diabetes.
Using dog models: an innovative approach with a lot of potential
The identification of genes which predispose people to particular diseases is difficult due to the complexity of the underlying causes. Using dog models is a promising new approach.
Dogs suffer from many of the same diseases as humans – but possible genetic causes are often much easier to trace in dogs. This is because, due to inbreeding, pedigree dogs are much less genetically complex than humans - the number of markers required to carry out entire genome scans on dogs is at least ten times lower than for human patients, leading to a significant reduction of samples required.
Therefore, the LUPA project is based on the principle that genetic analysis of diseases in dogs can sometimes be an easier way for researchers to gain initial insights into the pathways of certain human disorders than attempting much more complex and challenging analysis directly on human gene patterns.
Dogs can also be a good model for assessing the effectiveness of individualised treatment for complex diseases such as cancer because as loved pets they are often given very sophisticated veterinary treatment.
Benefits for the dog population
The LUPA project could have a major impact on the future of veterinary medicine in Europe. Researchers of the LUPA project successfully developed a genetic test to detect carriers of the gene mutation to prevent breeding carriers giving birth to potentially affected puppies. No dog was harmed during the study since researchers only collected the DNA.
Primary ciliary dyskinesis (PCD) is characterized by abnormally functioning cellular cilia. Cilia are very abundant at the surface of respiratory airways, their beating allow the progressive elimination of microorganisms from breathed air. When cilia are immotile or submotile affected individuals frequently develop chronic respiratory infections.
In the present study, researchers analysed and compared the genetic material from 5 affected and 15 healthy Old English Sheepdogs, which led to the identification of one mutation on gene CCDC39 on chromosome 34. They then verified if mutations in this gene could explain the disease in humans. 50 DNA samples from affected individuals suffering from PCD were sequenced. 15 different mutations were identified.
LUPA website: http://www.eurolupa.org
Photos/Videos of the LUPA project:
Health research website: http://ec.europa.eu/research/health/index_en.html
Annex – List of participants and contacts
Contacts for the press:
Pr Michel Georges