Chemin de navigation

Left navigation

Additional tools

Q&A on 26 new EU research projects on rare diseases

Commission Européenne - MEMO/13/148   28/02/2013

Autres langues disponibles: aucune

European Commission

MEMO

Brussels, 28 February 2013

Q&A on 26 new EU research projects on rare diseases

1) Why is research at European level important?

There is a huge need for European cooperation in rare diseases research. Individual Member States are not able to gather enough knowledge and expertise in a specific disease due to scarce resources and the relatively low number of patients in each Member State. As a consequence, it is also difficult for doctors to diagnose and identify the best treatment for rare diseases. Only through exchange of knowledge and pooling resources together, Europe can get closer to solutions.

Research on rare diseases presents also remarkable interest for other health sectors: rare diseases can serve as models to better understand more common diseases. And overcoming the many hurdles to investigating rare diseases can help improve health research in other areas e.g. by developing models for personalised medicine approaches.

2) Why has the EU led the creation of the International Rare Diseases Research Consortium (IRDiRC)?

Rare diseases are a challenge too big for any country or world region to master alone. This is why the European Commission, together with national and international partners, initiated IRDiRC. The ability to share resources and expertise with other organisations from around the world will multiply our chances of finding new ways to diagnose and fight rare diseases.

IRDiRC's key objective is to deliver, by 2020, 200 new therapies for rare diseases and the means to diagnose most of them. The European Commission and the U.S. National Institutes of Health launched this initiative in spring 2011. It brings together organisations ready to invest, over a 5-year period, more than €7.6 million into research which contributes to its objectives.

The European Union will invest close to €500 million into research relevant to this area during the period 2007-2013.

Just under 30 organisations from Europe, North America and Australia are already part of IRDiRC and more organisations from across the globe are expected to join the initiative. The consortium will also rely on the collaboration with researchers, patients groups, industry associations and regulatory bodies.

3) Apart from research, what else is the EU doing to combat rare diseases?

The European Commission helps bring together the scarce knowledge and resources that are currently fragmented across individual EU countries, to maximize synergies and results.

The 2008 Commission Communication on rare diseases - 'Europe's challenges', put forward a co-operation system between the Commission, Member States and various stakeholders. This paved the way for a Council Recommendation in 2009 on action in the field of rare diseases, a number of Joint Actions under the EU Health Programme, e.g. the 'Orphanet Europe' joint action which helps patients and professionals to collect and share expertise and information across borders, and the creation in 2010 of the EU Committee of Experts on Rare Diseases.

Specific measures of the EU policy on rare diseases include improving recognition and visibility of rare diseases, ensuring that they are adequately coded and traceable in all health information systems, supporting rare diseases registries and providing a European Platform for rare diseases registration, strengthening EU-level cooperation and coordination and supporting national plans for rare diseases.

In the Council Recommendation, Member States are called to adopt national plans or strategies for rare diseases by the end of 2013. The Commission has supported the development of technical assistance and training tools to help Member States create these national plans, i.e. the EUROPLAN project and the 2012 Joint Action. It is up to Member States to shape their own national rare diseases plans adapted to their reality, but following common guidelines.

4) What is the kind of research that the European Research Council is funding to fight rare diseases?

Molecular and Genetic Study of the human infections by Capnocytophaga canimorsus – “CAPCAN” – Funding: EUR 1.47 million

Capnocytophaga canimorsus are Gram-negative bacteria from the normal oral flora of dogs, which can cause rare but severe infections in humans who have been bitten or licked, resulting in fulminant septicaemia with peripheral gangrene. With his ERC grant, Prof Guy R. Cornelis sets out to study the complex interactions between the bacteria and human cells, and to determine whether all bacterial strains are equally dangerous in this rare human infectious disease. By developing virulence models, the project should offer new insights into this recently discovered pathogen and information on how to prevent infection in the future.

Genome Stability Mechanisms in Aging – “GENSTAGE” – Funding EUR 1.44 million

This research project aims at understanding the mechanisms underlying aging. It focuses on the discovery of novel genes functioning in genome stability and longevity regulation that might be instrumental for development of preventive therapeutic strategies to treat rare genetic progeroid disorders (i.e.; rare disorders that appear early in childhood and impact children’s health with for instance, growth retardation and neurodegenerative problems such as deafness, vision deficits and motor difficulties).

Molecular by-pass therapy for mitochondrial dysfunction - “Mito-by-pass” – Funding EUR 2.43 million

The project deals with malfunction of the mitochondria, the cell’s "power-plants", which underlies a diverse range of human pathologies; including rare neuromuscular syndromes, many cases of common multifactorial diseases, neurodegenerative conditions such as Parkinson’s disease, and devastating metabolic disorders of infancy. The research team of Jacob Howard Trevor develops an innovative strategy for genetic therapy of this vast range of pathologies.

5) Overview of the 26 new research projects

Project acronym & full name

Coordinator

Contact person

e-mail address

EU contribution for the project

ADVANCE_HTA
Advancing and strengthening the methodological tools and practices relating to the application and implementation of Health Technology Assessment (HTA)

LONDON SCHOOL OF ECONOMICS AND POLITICAL SCIENCE, UK

Panos Kanavos

p.g.kanavos@lse.ac.uk

€2 999 805

BALANCE
Development of a bioartificial liver therapy in acute liver failure

ACADEMISCH MEDISCH CENTRUM BIJ DE UNIVERSITEIT VAN AMSTERDAM, The Netherlands

Robert A.F.M. Chamuleau

r.a.chamuleau@amc.uva.nl

€5 996 180

BESTCILIA
Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia

WESTFAELISCHE WILHELMS-UNIVERSITAET MUENSTER, Germany

Heymut Omran

heymut.omran@ukmuenster.de

€2 993 675

chILD-EU
Orphans Unite: chILD better together –
European Management Platform for Childhood Interstitial Lung Diseases

LUDWIG-MAXIMILIANS-UNIVERSITAET MUENCHEN, Germany

Matthias Griese

matthias.griese@med.uni-muenchen.de

€3 000 000

DeSScipher
To decipher the optimal management of systemic sclerosis

JUSTUS-LIEBIG-UNIVERSITAET GIESSEN, Germany

Ulf Müller-Ladner

u.mueller-ladner@kerckhoff-klinik.de

€2 999 835

DevelopAKUre
Clinical Development of Nitisinone for Alkaptonuria

ROYAL LIVERPOOL AND BROADGREENS UNIVERSITY HOSPITALS TRUST , UK

Lakshminarayan Ranganath

lrang@liverpool.ac.uk

€5 999 999

DRUGSFORD
Preclinical development of drugs and drug delivery technology for the treatment of inherited photoreceptor degeneration

EBERHARD KARLS UNIVERSITAET TUEBINGEN, Germany

Francois Paquet-Durand

francois.paquet-durand@klinikum.uni-tuebingen.de

€4 971 428

DSD-Life
Clinical European study on the outcome of surgical and hormonal therapy and psychological intervention in disorders of sex development (DSD)

CHARITE - UNIVERSITAETSMEDIZIN BERLIN, Germany

Birgit Köhler

Birgit.Koehler@charite.de

€2 999 956

EURenOmics
European Consortium for High-Throughput Research in Rare Kidney Diseases

UNIVERSITAETSKLINIKUM HEIDELBERG, Germany

Franz Schaefer

franz.schaefer@med.uni-heidelberg.de

€11 994 567

EUROFANCOLEN
Phase I/II Gene Therapy Trial of Fanconi anemia patients with a new Orphan Drug consisting of a lentiviral vector carrying the FANCA gene: A Coordinated International Action

CENTRO DE INVESTIGACIONES ENERGETICAS -CIEMAT, Spain

Juan A. Bueren

juan.bueren@ciemat.es

€5 380 170

FIGHT-HLH
First Targeted Therapy to FIGHT Hemophagocytic Lymphohistiocytosis (HLH): A novel approach to HLH

NOVIMMUNE SA, Switzerland

Christina de Min

cdemin@novimmune.com

5 946 262

GAPVAC
Glioma actively personalized vaccine consortium

IMMATICS BIOTECHNOLOGIES GMBH, Germany

Sabrina Kuttruff

kuttruff@immatics.com

€5 970 450

IMPROvED
IMproved Pregnancy Outcomes by Early Detection;
personalized medicine for pregnant women: novel metabolomic and proteomic biomarkers
to detect pre-eclampsia and improve outcome.

UNIVERSITY COLLEGE CORK, Ireland

Louise Kenny

l.kenny@ucc.ie

€5 995 390

MeuSIX
Clinical trial of gene therapy for MPS VI - a severe lysosomal storage disorder

FONDAZIONE TELETHON, Italy

Alberto Auricchio

auricchio@tigem.it

€5 995 041

Net4CGD
Gene Therapy for X-linked Chronic Granulomatous Disease (CGD)

ASSOCIATION GENETHON, France

Anne Galy

galy@genethon.fr

€5 999 615

Neuromics
Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

EBERHARD KARLS UNIVERSITAET TUEBINGEN, Germany

Olaf RIESS

olaf.riess@med.uni-tuebingen.de

€12 000 000

OPTIMISTIC
Observational Prolonged Trial In Myotonic dystrophy type 1 to Improve QoL-Standards, a Target Identification Collaboration

STICHTING KATHOLIEKE UNIVERSITEIT, The Netherlands

Baziel Van Engelen

b.vanengelen@neuro.umcn.nl

€3 000 000

PREVENTROP
New approach to treatment of the blinding disease Retinopathy of Prematurity (ROP)

GOETEBORGS UNIVERSITET, Sweden

Ann Hellström

ann.hellstrom@medfak.gu.se

€5 990 236

PROFNAIT
Development of a prophylactic treatment for the prevention of fetal/neonatal alloimmune thrombocytopenia (FNAIT

PROPHYLIX PHARMA AS , Norway

Jens Kjeldsen-Kragh

jkk@prophylixpharma.com

€5 986 000

RARE-Bestpractices
Platform for sharing best practices for management of rare diseases

ISTITUTO SUPERIORE DI SANITA, Italy

Domenica Taruscio

domenica.taruscio@iss.it

€2 000 000

RD-Connect
RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research

UNIVERSITY OF NEWCASTLE UPON TYNE, UK

Hanns Lochmueller

hanns.Lochmuller@ncl.ac.uk

€11 997 111

SKIP-NMD
A phase I/IIa clinical trial in Duchenne muscular dystrophy using
systemically delivered morpholino antisense oligomer to skip exon 53

UNIVERSITY COLLEGE LONDON, UK

Francesco Muntoni

f.muntoni@ucl.ac.uk

€5 512 424

STRONG
European Consortium for the Study of a Topical Treatment of Neovascular Glaucoma

JOHANNES GUTENBERG-UNIVERSITAET MAINZ, Germany

Norbert Pfeiffer

norbert.pfeiffer@unimedizin-mainz.de

€5 745 334

SUPPORT-IRDiRC
Support for international rare disease research to serve the IRDiRC objectives

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM), France

Segolene Ayme

segolene.ayme@inserm.fr

€2 000 000

THALAMOSS
THALAssaemia MOdular Stratification System for personalized therapy of beta-thalassemia

UNIVERSITA DEGLI STUDI DI FERRARA , Italy

Roberto Gambari

gam@unife.it

€5 020 000

Traumakine
Interferon-beta treatment of acute respiratory distress syndrome (ARDS)

OY FARON PHARMACEUTICALS LTD, Finland

Markku Jalkanen

markku.jalkanen@faronpharmaceuticals.com

€5 997 278


Side Bar

Mon compte

Gérez vos recherches et notifications par email


Aidez-nous à améliorer ce site