12/03/2019

Funded Projects

Results of EJP RD Joint Transnational Call (JTC2019)

In December 2018 the EJP RD launched its first Joint Transnational Call (JTC2019) co-funded with the European Commission to fund multilateral “Research projects to accelerate diagnosis and/or explore disease progression and mechanisms of rare diseases”. The aim of the call was to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear benefit for patients. Twenty three countries joined this call: Austria, Belgium, Canada (including Québec), Czech Republic, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Israel, Italy, Lithuania, Luxembourg, Poland, Portugal, Slovakia, Spain, Sweden, Switzerland, The Netherlands and Turkey.

The process included a two-step submission and evaluation procedure.

In the first step a total of 217 eligible pre-proposals were submitted. After careful examination by the Scientific Evaluation Committee (SEC), 52 pre-proposals were selected for full submission. Each of the full proposals was then evaluated by at least two additional external experts whose reviews were sent to project coordinators in order to give them the opportunity of studying the assessments and commenting on experts’ arguments and evaluations. Both inputs were taken into account in a second SEC meeting.

Following the second SEC evaluation and ranking of the best projects, 22 consortia with a foreseen budget of about 30,5 Mio € were selected for funding, including almost 6 Mio € of co-funding from the European Commission.

The list of funded projects is detailed below. More information on the funded projects and the outcomes of the call (lay summaries, statistics, etc.) will be provided soon.

Selected Projects

ALEXANDER

Title: The astrocyte nanofilament system in Alexander disease – from molecules to function, uncovering new leads for therapy

Coordinator: Hol, Elly (NL)

Partners: Pekny, Milos (SE) – Kubista, Mikael (CZ) – Harel, Itamar (IL) – Ahlenius, Henrik (SE) – Pérez-Sala Gozalo, Dolores (ES) – ELA International (LU) – Patiëntenvereniging VKS (NL)

AspecT-NMO

Title: Measuring autoantigen-specific T cells as new diagnostic sensors and therapeutic targets in neuromyelitis optica

Coordinator: Scheffold, Alexander (DE)

Partners: Elinav, Eran (IL) – Marignier, Romain (FR) -Martin, Roland (CH) – Fillatreau, Simon (FR) – Mario, Assenmacher (DE)

DevDBA

Title: Ontogeny as a critical determinant of DBA sensitivity in red blood cells

Coordinator: Ditadi, Andrea (IT)

Partners: O’Donohue, Marie-Françoise (FR) – Schwartz, Schraga (IL) -Flygare, Johan (SE) – Pospisilova, Dagmar (CZ) – Jovanovic, Marko (USA)

ENISNIP

Title: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain

Coordinator: Kurth, Ingo (DE)

Partners: Senderek, Jan (DE) – Laššuthová, Petra (CZ) – Auer-Grumbach, Michaela (AT) – Hornemann, Thorsten (CH) – Chrast, Roman (SE) – Parman, Yesim (TR) – Spolecnost C-M-T (CZ) – CMT-Austria (AT)

EurDyscover

Title: Pathophysiology of dystonia – role of gene-environment interaction and common pathophysiological pathways

Coordinator: Volkmann, Jens (DE)

Partners: Oliveira-Maia, Albino (PT) – Pisani, Antonio (IT) -Kühn, Andrea (DE) – Jech, Robert (CZ) – Vidailhet, Marie (FR)

FAIRVASC

Title: FAIRVASC – building registry interoperability to inform clinical care

Coordinator: Vaglio, Augusto (IT)

Partners: Little, Mark (IE) – Terrier, Benjamin (FR) – Mohammad, Aladdin (SE) – Lamprecht, Peter (DE) – Musial, Jacek (PL) – Hruskova, Zdenka (CZ) – Basu, Neil (UK) – Vasculitis Stichting (NL)

FIGHT-CNNM2

Title: For Improving diagnostics and Grasping the disease mechanisms of rare Hypomagnesemia in paTients with CNNM2 mutations

Coordinator: Hoenderop, Joost (NL)

Partners: de Baaij, Jeroen (NL) – Tremblay, Michel (CA) – Müller, Dominik (DE) – Martinez-Cruz, Alfonso (ES) – de las Heras, Javier (ES) – HIPOFAM (ES)

GENOMIT

Title: Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials

Coordinator: Prokisch, Holger (DE)

Partners: Mayr, Johannes (AT) – Rötig, Agnes (FR) – Lamperti, Costanza (IT) – Klopstock, Thomas (DE) – Mancuso, Michelangelo (IT) – Murayama, Kei (JP) – McFarland, Robert (UK) – Deutsche Gesellschaft für Muskelkranke e.V. (DGM) Diagnosegruppe Mitochondriale Erkrankungen (DE) – Mitocon, insieme per lo studio e la cura delle Malattie Mitocondriali, Onlus (IT) – The Lily Foundation (UK) – AMMi (Association against michondrial diseases) (FR)

IDOLS-G

Title: Improved diagnostic output in large sarcomeric genes

Coordinator: Udd, Bjarne (FI)

Partners: Linari, Marco (IT) – Laporte, Jocelyn (FR) – Mártonfalvi, Zsolt (HU) – Munell, Francina (ES) – Ottenheijm, Coen (NL) – Õunap, Katrin (EE) – Gautel, Mathias (UK) – Lihastautiliitto ry – The Finnish Neuromuscular Disorders Association (FI)

LQTS-NEXT

Title: To the NEXT level of risk prediction in patients with Long QT Syndrome

Coordinator: Bezzina, Connie (NL)

Partners: Barc, Julien (FR) – Schwartz, Peter (IT) – Schulze-Bahr, Eric (DE) – Keck, Andreas (DE)

MYOCITY

Title: A multidimensional single-cell approach to understand muscle dystrophy

Coordinator: Le Grand, Fabien (FR)

Partners: Rudnicki, Michael (CA) – Ruegg, Markus (CH) – Previtali, Stefano (IT) – Bava, Alessio (FR)

NG4Leuko

Title: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy

Coordinator: Vivi, Heine (NL)

Partners: Gritti, Angela (IT) – Brustle, Oliver (DE) – Angulo, Maria Cecilia (FR) – Sousa, Monica (PT) – ELA International – GEIE (LU)

NSEuroNet

Title: European network on Noonan syndrome and related disorders

Coordinator: Tartaglia, Marco (IT)

Partners: Zenker, Martin (DE) – Ahmadian, Reza (DE) – den Hertog, Jeroen (NL) – Cavé, Hélène (FR) – Yart, Armelle (FR) – Gos, Monika (PL) – Gelb, Bruce D (USA)

PhysPath-KS

Title: Understanding the pathophysiology of Keutel Syndrome: A path towards cure

Coordinator: Murshed, Monzur (CA)

Partners: Kempf, Hervé (FR) – Cancela, M Leonor (PT) – Cucchiarini Madry, Magali (DE)

PredACTINg

Title: Predicting the clinical outcome of non-muscle actinopathies

Coordinator: Di Donato, Nataliya (DE)

Partners: Reymann, Anne-Cecile (FR) – Manstein, Dietmar J (DE) – Bianco, Pasquale (IT) – Miklós, Kellermayer (HU)

PROGERIA

Title: The rarest of the rare – exploring non-coding RNA in the disease pathogenesis of Hutchinson-Gilford progeria syndrome

Coordinator: Eriksson, Maria (SE)

Partners: d’Adda di Fagagna, Fabrizio (IT) – Foisner, Roland (AT) – Djabali, Karima (DE) – Pia, Bernasconi (IT) – The Progeria Research Foundation (USA)

PROSPAX

Title: PROSPAX: an integrated multimodal progression chart in spastic ataxias

Coordinator: Synofzik, Matthis (DE)

Partners: Brais, Bernard (CA) – van de Warrenburg, Bart (NL) – Santorelli, Filippo (IT) – Elena, Rugarli (DE) – Nazli, Basak (TR) – Tezenaz du Montcel, Sophie (FR) – Horvath, Rita (UK) – Ataxia Charlevoix-Saguenay Foundation (CA) – Deutsche Heredo-Ataxie Gesellschaft Bundesverband e.V. (DHAG e.V.) (DE) – Euro-HSP (FR)

RARE-ILD

Title: Raising diagnostic accuracy and therapeutic perspectives in interstitial lung diseases

Coordinator: Guenther, Andreas (DE)

Partners: Crestani, Bruno (FR) – Eils, Roland (DE) – Molina Molina, Maria (ES) – Haick, Hossam (IL) – Brun, Virginie (FR) – Walsh, Simon (UK)

RiboEurope

Title: The European Ribosomopathy Consortium

Coordinator: Gleizes, Pierre-Emmanuel (FR)

Partners: Lafontaine, Denis (BE) – Boztug, Kaan (AT) – Erlacher, Miriam (DE) – Houtkooper, Riekelt (NL) – Da Costa, Lydie (FR) – Albrecht, Katarzyna (PL) – Cetinkaya, Arda (TR)

Solve-RET

Title: Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models

Coordinator: DE BAERE, Elfride (BE)

Partners: CREMERS, Frans (NL) – DOLLFUS, Hélène (FR) – LISKOVA, Petra (CZ) – RIVOLTA, Carlo (CH) – BANFI, Sandro (IT) – SPIELMANN, Malte (DE) – GÓMEZ-SKARMETA, José Luis (ES) – Retina International (CH)

TARID

Title: Thymic Abnormalities in Rare Immunological Diseases

Coordinator: Kekäläinen, Eliisa (FI)

Partners: Arstila, T. Petteri (FI) – Guillonneau, Carole (FR) – Giraud, Matthieu (FR) – Peterson, Pärt (EE) – Graca, Luis (PT)

URGENT

Title: Unveiling the Role of Glutamate in dopaminE traNspoTer deficiency syndrome

Coordinator: Ris, Laurence (BE)

Partners: Fumagalli, Fabio (IT) – Caiazzo, Massimiliano (NL) – Salahpour, Ali (CA) – Razumienè, Julija (LT)