IP/10/1689
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.
Background
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:
http://ec.europa.eu/research/index.cfm?pg=newsalert&year=2010&na=na-091210#photos
Nature Genetics:
http://www.nature.com/ng/journal/vaop/ncurrent/pdf/ng.726.pdf
http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.726.html
Health research website: http://ec.europa.eu/research/health/index_en.html
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Annex – List of participants and contacts
Contacts for the press:
Pr Michel Georges
Université de Liège
GIGA-Recherche,
+32 4 366 41 51
Michel.Georges@ulg.ac.be
UNIVERSITE DE LIEGE (coordinator)
BELGIUM
ECOLE NATIONALE VETERINAIRE D'ALFORT
FRANCE
THE UNIVERSITY OF MANCHESTER
UK
THE UNIVERSITY OF LIVERPOOL
UK
THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UK
UNIVERSITY OF CAMBRIDGE
UNIVERSITEIT UTRECHT
NETHERLANDS
ANTAGENE
FRANCE
ANIMAL HEALTH TRUST
UK
CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE
FRANCE
(CNRS)
UNIVERSITAT AUTONOMA DE BARCELONA
SPAIN
UNIVERSITAET ZUERICH
SWITZERLAND
UNIVERSITY COLLEGE DUBLIN
IRELAND
KOBENHAVNS UNIVERSITET
DENMARK
UNIVERSITAET BERN
SWITZERLAND
HELSINGIN YLIOPISTO
FINLAND
COMMISSARIAT A L'ENERGIE ATOMIQUE (CEA)
FRANCE
THE UNIVERSITY OF NOTTINGHAM
UK
LUDWIG-MAXIMILIANS-UNIVERSITAET MUENCHEN
GERMANY
THE ROYAL VETERINARY COLLEGE
UK
SVERIGES LANTBRUKSUNIVERSITET
SWEDEN
UPPSALA UNIVERSITET
SWEDEN
NORWEGIAN SCHOOL OF VETERINARY SCIENCE
NORWAY
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