RaDiCo

RaDiCo hosts 13 rare disease cohorts selected by an international jury.

These cohorts cover 67 diseases with the following objectives:

1. Describe the natural history of rare diseases
2. Identify the genes involved
3. Establish phenotype–genotype correlations
4. Elucidate pathophysiological mechanisms
5. Identify new therapeutic approaches
6. Assess societal and medico-economic impact
7. Identify patients eligible for innovative therapies

RaDiCo also provides a national operational platform. Comparable to a research infrastructure, it supports the development of rare disease e-cohorts meeting strict excellence criteria. Processes are standardized, monitored by quality indicators, and designed for scalability.

The platform enables pooling of expertise and tools necessary to build a shared database. This interoperable, cloud-based, GDPR-compliant database ensures continuous monitoring of data quality and consistency. It is also compatible with the French National Health Data System (SNDS) and the Health Data Hub (HDH).

• RaDiCo-AC-ŒIL (Profs. P. Calvas & N. Chassaing)
  National cohort on congenital eye anomalies: natural history, genetic determinants, and improvement of ocular and extra-ocular prognosis for better patient care.
• RaDiCo-COLPAC (Dr. C. Corpechot)
  National cohort on the epidemiology and clinical/genetic heterogeneity of the Low Phospholipid-Associated Cholelithiasis (LPAC) syndrome.
• RaDiCo-ECYSCO (Dr. A. Servais & Prof. P. Niaudet)
  National and European cohort on cystinosis.
• RaDiCo-DCP (Profs. B. Maitre & E. Escudier)
  Primary ciliary dyskinesias: identification of specific severity criteria and investigation of genotype–phenotype correlations.
• RaDiCo-EURBIO-Alport (Dr. L. Heidet & Prof. B. Knebelmann)
  Alport syndrome: European cohort and database for the identification of prognostic biomarkers.
• RaDiCo-GenIDA (Prof. J.-L. Mandel)
  International social network for collecting information on the natural history of rare monogenic forms of intellectual disability and/or autism.
• RaDiCo-IDMet (Profs. A. Linglart & I. Netchine)
  National and European cohort on imprinting disorders and their metabolic consequences.
• RaDiCo-MPS (Dr. B. Héron)
  National cohort on mucopolysaccharidoses in the era of specific treatments.
• RaDiCo-PID (Profs. A. Clement & V. Cottin)
  National cohort on interstitial lung diseases in children and adults.
• RaDiCo-SEDVasc (Prof. X. Jeunemaître)
  National cohort on vascular Ehlers-Danlos syndrome.

The RaDiCo research program is coordinated by Inserm (French National Institute of Health and Medical Research).

It is led by Dr. Sonia Gueguen, Unit UMR-S 933 "Genetic Diseases with Pediatric Expression", Armand Trousseau Hospital, Assistance Publique–Hôpitaux de Paris (AP-HP), Sorbonne Université.

• Portail Epidémiologie France