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Innovation Union/Research: progress on tackling a human disease thanks to EU-funded study of illness in pet dogs


Brussels, 9 December 2010

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 15other mutations in gene CCDC39 which explain at least 5 % of all PCD cases 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

Photos and video of the LUPA project

(Click on a photo for a higher resolution version: 14 MB for Marvin and 130 KB for the photo of the dog.)

marvin dog
The player will show in this div

Article in Nature Genetics:
http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.726.html
http://www.nature.com/ng/journal/vaop/ncurrent/pdf/ng.726.pdf

Health research website


Annex – List of participants and contacts

UNIVERSITE DE LIEGE (coordinator)

Pr Michel Georges
Michel.Georges@ulg.ac.be
+32 43 66 41 51

BELGIUM

UPPSALA UNIVERSITET

Pr Leif Andersson
leif.andersson@imbim.uu.se
+46 18 471 4904

SWEDEN

SWEDISH UNIVERSITY OF AGRICULTURAL SCIENCES

Pr. Åke Hedhammar: Ake.Hedhammar@kirmed.slu.se
+46-18-671355

SWEDEN

KOBENHAVNS UNIVERSITET

Pr. Merete Fredholm:
mf@life.ku.dk
+45 35333074

DENMARK

HELSINGIN YLIOPISTO

Pr. Hannes Lohi: hannes.lohi@helsinki.fi
+358919125085

FINLAND

CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS)- RENNES

Dr. Catherine André: catherine.andre@univ-rennes1
+33-2- 23 23 44 09

FRANCE

UNIVERSITAET BERN

Pr. Tosso Leeb: tosso.leeb@itz.unibe.ch
+41 31 631-2326

SWITZERLAND

ECOLE NATIONALE VETERINAIRE D'ALFORT

Ass. Pr. Laurent Tiret:
lupa@vetal-alfort.fr

FRANCE

NORWEGIAN SCHOOL OF VETERINARY SCIENCES

Pr. Frode Lingaas: frode.lingaas@veths.no
+47 22964780

NORWAY

THE UNIVERSITY OF MANCHESTER

Pr. Bill Ollier: bill.ollier@manchester.ac.uk

UK

THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF CAMBRIDGE

Dr. David Sargan:
drs20@cam.ac.uk
+44 1223 337686

UK

ANIMAL HEALTH TRUST

Dr. Mike Starkey: mike.starkey@aht.org.uk
+44 8700 509188

UK

UNIVERSITEIT UTRECHT

Dr. Peter Leegwater: p.a.j.leegwater@uu.nl
+31 302531678

NETHERLANDS

UNIVERSITAT AUTONOMA DE BARCELONA

Pr. Armand Sánchez: armand.sanchez@uab.cat
+34 935811398

SPAIN

ANTAGENE

Dr. Anne Thomas: anthomas@antagene.com
+33 4 37 49 90 03

FRANCE

UNIVERSITY OF MUNCHEN

Dr. Gerhard Wess:
gwess@lmu.de
+49-89-21801671

GERMANY

THE UNIVERSITY OF LIVERPOOL

Dr. Joanna Dukes-Mc Ewan:
j.dukes-mcewan@liverpool.ac.uk
+ 44 151 794 6005

UK

ROYAL VETERINARY COLLEGE

Dr. Brian Catchpole: bcatchpole@rvc.ac.uk

UK

UNIVERSITAET ZUERICH

Dr. Claude Favrot: cfavrot@vetclinics.uzh.ch

SWITZERLAND

UNIVERSITY COLLEGE DUBLIN

Pr. Sean Callanan: sean.callanan@ucd.ie
+353-1-7166152

IRELAND

UNIVERSITY OF NOTTINGHAM

Dr. Kate Millar: kate.millar@nottingham.ac.uk
+ 44 1159 516303

UK

COMMISSARIAT A L'ENERGIE ATOMIQUE (CEA)

Pr Mark Lathrop
mark.lathrop@cng.fr
+33-1-60878403

FRANCE

Charlotte Gugenheim
European Commission – Directorate-General for Research and Innovation
Press and Information Officer
charlotte.gugenheim@ec.europa.eu
(+32) 2 29 64 343