Objective Ciliopathies are a large group of rare and severe genetic diseases caused by dysfunction of the primary cilium, a microtubule-based cell surface antenna that controls key signaling output required during development and tissue homeostasis. Cilium dysfunction leads to complex disorders with high genetic heterogeneity and overlapping phenotypes. Despite the broad clinical spectrum, chronic kidney disease (CKD) leading to end stage kidney disease (ESKD) is a common cause of morbidity across ciliopathies. Currently, the only available standard of care for CKD is based on dialysis and transplantation. Renal ciliopathies represent a main cause of ESKD during childhood and despite the identification of more than 40 causative genes, it remains difficult to predict the severity of the disease as well as the risk of appearance (if not present at diagnosis) and the rate of progression of renal failure. TheRaCil therefore aims: (1) to improve diagnosis and prognosis of at risk pediatric renal ciliopathy patients, and (2) to implement therapeutic approaches aimed at targeting shared pathological pathways, at modifying mRNA targets of the causative or modifier genes by antisense oligonucleotides and by the repurposing of available molecules. These goals will be achieved through the federation of our unique databases of pediatric renal ciliopathies cases available across Europe, which will allow a better stratification of patients, the identification of modifier genes and markers of disease progression. Bioinformatics approaches will be used to integrate patients’ biological and genetic data as well as multi-omics and functional analyses from patients samples and preclinical models. These analyses should lead to the identification of shared targetable pathological pathways as well as of patients eligible for the identified new therapeutic approaches which will be evaluated in robust preclinical models. Fields of science natural sciencescomputer and information sciencesdatabasesnatural sciencesmathematicspure mathematicsmathematical analysisfunctional analysismedical and health sciencesclinical medicinetransplantationmedical and health sciencesbasic medicinephysiologyhomeostasismedical and health sciencesclinical medicinenephrologykidney diseases Keywords ciliopathies chronic kidney disease antisense oligonucleotides modifiers personalised medicine AI technology preclinical models patient centered outcomes NPH ARPKD clinical trial readiness Programme(s) HORIZON.2.1 - Health Main Programme HORIZON.2.1.3 - Non-Communicable and Rare Diseases Topic(s) HORIZON-HLTH-2022-DISEASE-06-04-two-stage - Development of new effective therapies for rare diseases Call for proposal HORIZON-HLTH-2022-DISEASE-06-two-stage See other projects for this call Funding Scheme HORIZON-RIA - HORIZON Research and Innovation Actions Coordinator IMAGINE INSTITUT DES MALADIES GENETIQUES NECKER ENFANTS MALADES FONDATION Net EU contribution € 1 989 483,05 Address 24 bd du montparnasse 75015 Paris France See on map Region Ile-de-France Ile-de-France Paris Activity type Research Organisations Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 Participants (13) Sort alphabetically Sort by Net EU contribution Expand all Collapse all RUPRECHT-KARLS-UNIVERSITAET HEIDELBERG Germany Net EU contribution € 416 000,00 Address Seminarstrasse 2 69117 Heidelberg See on map Region Baden-Württemberg Karlsruhe Heidelberg, Stadtkreis Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 KLINIKUM DER UNIVERSITAET ZU KOELN Germany Net EU contribution € 708 931,25 Address Kerpener strasse 62 50937 Koeln See on map Region Nordrhein-Westfalen Köln Köln, Kreisfreie Stadt Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITAIR MEDISCH CENTRUM UTRECHT Netherlands Net EU contribution € 471 557,50 Address Heidelberglaan 100 3584 CX Utrecht See on map Region West-Nederland Utrecht Utrecht Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 ASSISTANCE PUBLIQUE HOPITAUX DE PARIS France Net EU contribution € 27 955,00 Address 55 boulevard diderot 75012 Paris See on map Region Ile-de-France Ile-de-France Val-de-Marne Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 WESTFAELISCHE WILHELMS-UNIVERSITAET MUENSTER Germany Net EU contribution € 280 930,00 Address Schlossplatz 2 48149 Muenster See on map Region Nordrhein-Westfalen Münster Münster, Kreisfreie Stadt Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 KOBENHAVNS UNIVERSITET Denmark Net EU contribution € 788 532,50 Address Norregade 10 1165 Kobenhavn See on map Region Danmark Hovedstaden Byen København Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE France Net EU contribution € 592 347,50 Address Rue de tolbiac 101 75654 Paris See on map Region Ile-de-France Ile-de-France Paris Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 Third-party Legal entity other than a subcontractor which is affiliated or legally linked to a participant. The entity carries out work under the conditions laid down in the Grant Agreement, supplies goods or provides services for the action, but did not sign the Grant Agreement. A third party abides by the rules applicable to its related participant under the Grant Agreement with regard to eligibility of costs and control of expenditure. UNIVERSITE DE STRASBOURG France Net EU contribution € 0,00 Address Rue blaise pascal 4 67081 Strasbourg See on map Region Grand Est Alsace Bas-Rhin Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 MEDETIA SAS France Net EU contribution € 373 200,00 Address 24 boulevard du montparnasse 75015 Paris See on map SME The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed. Yes Region Ile-de-France Ile-de-France Paris Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM Netherlands Net EU contribution € 809 060,00 Address Geert grooteplein 10 zuid 6525 GA Nijmegen See on map Region Oost-Nederland Gelderland Arnhem/Nijmegen Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITATSKLINIKUM HEIDELBERG Germany Net EU contribution € 536 862,50 Address Im neuenheimer feld 672 69120 Heidelberg See on map Region Baden-Württemberg Karlsruhe Heidelberg, Stadtkreis Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 BERGMANN CARSTEN Germany Net EU contribution € 91 837,50 Address See on map Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 OSPEDALE SAN RAFFAELE SRL Italy Net EU contribution € 338 750,00 Address Via olgettina 60 20132 Milano See on map Region Nord-Ovest Lombardia Milano Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 Partners (2) Sort alphabetically Sort by Net EU contribution Expand all Collapse all CILIOPATHY ALLIANCE United Kingdom Net EU contribution € 0,00 Address 91 royal college street NW1 0SE London See on map Region London Inner London — West Camden and City of London Activity type Other Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITY OF NEWCASTLE UPON TYNE United Kingdom Net EU contribution € 0,00 Address Kings gate NE1 7RU Newcastle upon tyne See on map Region North East (England) Northumberland and Tyne and Wear Tyneside Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00
