Our project in Summary

The project is funded by the ANR under the France’s major Investments for the future program (PIA) ANR Funding Program: "Hospital-University Research in Health (RHU)"
N° de convention : 17-RHUS-0002
• Start date : 01/01/2018
• End date : 31/12/2022
Coordinating structure : Institut des maladies génétiques Imagine
Coordinator : Stanislas LYONNET
Funding : Total requested funding: 5,976k€ Full cost: 20,407k€
Keywords : Ciliopathies, renal impairment, diagnosis, prognosis, therapy, artificial intelligence

Context Aims Network
Ciliopathies are a large group of rare and severe genetic diseases caused by ciliary dysfunction. In spite of being individually rare, they affect collectively up to one per 2000 people. Despite their broad spectrum of clinical manifestations, a common cause of morbidity and mortality across several ciliopathies is the degradation of the renal function leading to end stage renal disease, for which the available standard of care is based on dialysis and transplantation only. However, the clinical and genetic heterogeneity as well as the lack of knowledge on patients’ natural history limit the development of novel targeted therapies that could improve patients’ care. In this context, the C’IL-LICO project aims at developing innovative, groundbreaking, and transformative diagnostic, prognostic and tailored therapeutic approaches for patients suffering from ciliopathies leading to renal failure. -First, the project proposes to construct a mechanistic stratification of ciliopathies, using artificial intelligence (AI), in order to regroup suspected and already diagnosed ciliopathies in a treatment-orientated classification. -Second, it allows building ready-to-use bio-kits for assessing both diagnosis, and prognosis of developing renal alteration, in ciliopathy patients.-Third, it offers the opportunity to develop tailored first-class therapeutic approaches ready to enter clinical development. In order to succeed in this project, the consortium brings together a unique network of clinical, biological and computer scientists at Imagine Institute, INSERM, APHP, Strasbourg University Hospital, and École Polytechnique. The consortium will rely on its world class expertise in ciliopathies as well as on its integrated methods that include a combination of disruptive informational technologies – such as AI, clinical bioinformatics and semantic text mining – along with well-established cutting-edge experimental approaches – including induced pluripotent stem cells, multi-omics, high-content and high-throughput screening – and clinical resources including cohorts, and databases developed for several years describing ciliopathy patients. The excellence of this partnership, the synergies already in place and the strong preliminary data will guarantee the successful completion of the project.