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

Objective

Neurodegenerative (ND) and neuromuscular (NM) disease is one of the most frequent classes of rare diseases, affecting life and mobility of 500,000 patients in Europe and millions of their caregivers, family members and employers. This NEUROMICS project brings together the leading research groups in Europe, five highly innovative SMEs and relevant oversea experts using the most sophisticated Omics technologies to revolutionize diagnostics and to develop pathomechanism-based treatment for ten major ND and NM diseases. Specifically we aim to:
(i) use next generation WES to increase the number of known gene loci for the most heterogeneous disease groups from about 50% to 80%,
(ii) increase patient cohorts by large scale genotyping by enriched gene variant panels and NGS of so far unclassified patients and subsequent phenotyping,
(iii) develop biomarkers for clinical application with a strong emphasis on presymptomatic utility and cohort stratification,
(iv) combine -omics approaches to better understand pathophysiology and identify therapeutic targets,
(v) identify disease modifiers in disease subgroups cohorts with extreme age of onset
(vi) develop targeted therapies (to groups or personalized) using antisense oligos and histone deacetylase inhibitors, translating the consortiums expertise in clinical development from ongoing trials toward other disease groups, notably the PolyQ diseases and other NMD.
To warrant that advances affect a large fraction of patients we limited the selection to a number of major categories, some of which are in a promising stage of etiological and therapeutic research while some others are in great need of further classification. The efforts will be connected through a NEUROMICS platform for impact, communication and innovation that will provide tools and procedures for ensuring trial-readiness, WP performance, sustainability, interaction with the chosen Support IRDiRC and RD-Connect project and involvement of stakeholders in the NDD/NMD field.

Field of science

  • /medical and health sciences/basic medicine/physiology/pathophysiology
  • /social sciences/other social sciences/social sciences interdisciplinary/sustainable development

Call for proposal

FP7-HEALTH-2012-INNOVATION-1
See other projects for this call

Funding Scheme

CP-IP - Large-scale integrating project

Coordinator

EBERHARD KARLS UNIVERSITAET TUEBINGEN
Address
Geschwister-scholl-platz
72074 Tuebingen
Germany
Activity type
Higher or Secondary Education Establishments
EU contribution
€ 1 548 720,60
Administrative Contact
Holm Graessner (Dr.)

Participants (18)

ACADEMISCH ZIEKENHUIS LEIDEN
Netherlands
EU contribution
€ 747 400
Address
Albinusdreef 2
2333 ZA Leiden
Activity type
Higher or Secondary Education Establishments
Administrative Contact
R Esveld (Mr.)
KLINIKUM DER UNIVERSITAET ZU KOELN
Germany
EU contribution
€ 796 300
Address
Kerpener Strasse 62
50937 Koeln
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Brunhilde Wirth (Prof.)
UNIVERSITY OF NEWCASTLE UPON TYNE
United Kingdom
EU contribution
€ 1 020 478
Address
Kings Gate
NE1 7RU Newcastle Upon Tyne
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Amanda Gregory (Dr.)
DEUTSCHES ZENTRUM FUR NEURODEGENERATIVE ERKRANKUNGEN EV
Germany
EU contribution
€ 367 000,80
Address
Sigmund Freud Strasse 27
53127 Bonn
Activity type
Research Organisations
Administrative Contact
Annette Schoen (Mrs.)
UCL Elizabeth Garrett Anderson Institute for Women’s Health
United Kingdom
EU contribution
€ 952 601
Address
Gower Street
WC1E 6BT London
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Greta Borg-Carbott (Mrs.)
UNIVERSITE D'AIX MARSEILLE
France
EU contribution
€ 528 000
Address
Boulevard Charles Livon 58
13284 Marseille
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Céline Damon (Ms.)
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France
EU contribution
€ 993 999,60
Address
Rue De Tolbiac 101
75654 Paris
Activity type
Research Organisations
Administrative Contact
Isabelle Verdier (Mrs.)
VIB VZW
Belgium
EU contribution
€ 613 200
Address
Rijvisschestraat 120
9052 Zwijnaarde - Gent
Activity type
Research Organisations
Administrative Contact
Rik Audenaert (Mr.)
UNIVERSITA DEGLI STUDI DI MILANO
Italy
EU contribution
€ 246 000
Address
Via Festa Del Perdono 7
20122 Milano
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Elena Cattaneo (Prof.)
UNIVERSITA DEGLI STUDI DI FERRARA
Italy
EU contribution
€ 244 000
Address
Via Ariosto 35
44121 Ferrara
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Francesco Di Virgilio (Prof.)
THE CHANCELLOR MASTERS AND SCHOLARSOF THE UNIVERSITY OF CAMBRIDGE
United Kingdom
EU contribution
€ 246 000
Address
Trinity Lane The Old Schools
CB2 1TN Cambridge
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Renanta Schaeffer (Ms.)
ISLENSK ERFDAGREINING EHF
Iceland
EU contribution
€ 2 191 500
Address
Sturlugotu 8
101 Reykjavik
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Frosti Jonsson (Mr.)
ARIADNE DIAGNOSTICS LLC
United States
EU contribution
€ 480 000
Address
Key West Ave 9430 Suite 115
20850 Rockville
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Elena Schwartz (Dr.)
PROFILOMIC SA
France
EU contribution
€ 492 400
Address
Rue D Aguesseau 31
92100 Boulogne Billancourt
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Bruno Corman (Mr.)
AGILENT TECHNOLOGIES SWEDEN AB
Sweden
EU contribution
€ 200 400
Address
Kronborgsgrand 23
SE16494 Kista
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Laura Bernasconi (Ms.)
BIO-PRODICT BV
Netherlands
EU contribution
€ 252 000
Address
Nieuwe Marktstraat 54
6511 AA Nijmegen
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Henk-Jan Joosten (Dr.)
THE UNIVERSITY OF WESTERN AUSTRALIA
Australia
Address
Stirling Higway 35
6009 Crawley
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Robert Roche (Mr.)
UNIVERSITAETSKLINIKUM FREIBURG
Germany
EU contribution
€ 80 000
Address
Hugstetter Strasse 49
79106 Freiburg
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Gerhard Henninger (Mr.)