for Physicians
for Patients

Research Project

Project Title:

Theracil EU consortium

Project Type:

 Translational research

Disease group(s):

 Congenital malformations & ciliopathies, Pediatric CKD & dialysis, Pediatric kidney transplantation

Project Summary:

 Theracil: Therapies for Renal Ciliopathies

Advancing diagnosis and treatment of paediatric ciliopathies
Many cells feature primary cilia on their surface, which are microtubule-based antennae crucial for controlling essential signalling processes during development and tissue maintenance. Dysfunctional cilia can lead to ciliopathies, rare genetic disorders with diverse symptoms. Common morbidities associated with ciliopathies include chronic kidney disease and end-stage kidney disease, necessitating dialysis and transplantation. The EU-funded TheRaCil project, leveraging European patient databases, biocollections, robust preclinical models, and AI-based tools, aims to enhance diagnosis, prognosis, and treatment options for paediatric renal ciliopathies. The research includes repurposing therapeutic molecules and the use of antisense oligonucleotides to directly target kidney gene variants. Additionally, researchers will identify disease modifier genes and biomarkers, and refine patient stratification for improved treatment eligibility criteria.

Many ERKNET members participate.

Lead principal investigator(s):

 Sophie Saunier, Paris

Co-investigator(s):

 Laurence Heidet, Paris
Max Liebau, Cologne
Albertien vanEerde, Utrecht
Jens Koenig, Münster
Franz Schaefer, Heidelberg

Project Period:

 07/2023   -   06/2027

Sponsors:

 EU

Project web page:

 https://cordis.europa.eu/project/id/101080717
« Back to research page