What is CLAD-Est?
This rare diseases reference centre, originally certified in 2006 and re-certified in 2017, is a multi-site configuration of locations in the Est inter-region. It is coordinated by Professor Laurence Olivier-Faivre (Genetics Centre, Children's Hospital, Dijon) and brings together the genetics units of 3 other university hospitals: Strasbourg, Nancy and Reims. The Besançon centre of expertise is also involved.
The Dijon Bourgogne University Hospital site is one of the centre's key partners in the evaluation and management of FHU-TRANSLAD patients.
Prof. Laurence Olivier-Faivre coordinates the national AnDDI-Rares (Anomalies du Développement Déficience Intellectuelle de causes Rares / Disorders in the development of intellectual disabilities from rare causes) care stream which is structured around the diagnosis, follow-up and treatment of somatic and cognitive disorders. It relies on reference centres and centres of expertise in the field of developmental diseases, as well as cytogenetic, molecular, genetic and foetal pathology diagnostic laboratories, research teams, six academic societies and the group of partner associations.
What is a rare diseases reference centre?
Under the 1st and 2nd National Plans on Rare Diseases, about 100 reference centres in France were given certification status Under the 1st and 2nd National Plans on Rare Diseases, about 100 reference centres in France were given certification status.
These reference centres with their multidisciplinary teams aim to facilitate diagnosis, define and disseminate a management strategy and protocols, coordinate research and assist in epidemiological monitoring, assist with training drives and information campaigns, organise and coordinate health and medico-social networks, make recommendations for a national network of experts and act as designated representatives of supervisory authorities and patients associations, etc.
6 coordinating reference centres for “development disorders and deformity syndromes” and 20 constituent reference centres were given certification to attend to the needs of patients.
A centre of expertise belonging to the European reference network (ERN) ITHACA (Intellectual disability TeleHealth And Congenital Anomalies)
ERNs are the predictive component of a European-wide health policy. They represent a pool of known expertise. This networking produces combined expertise that benefits patients by making the sick person the focus of the system.
The European network ITHACA is one of 24 ERNs dedicated to rare diseases, with a focus on developmental disorders and intellectual disability. It has been in existence since March 2017 and is coordinated by Prof. Alain Verloes in Paris. It encompasses 13 countries, 36 reference centres and 23 patients associations under European management.
In France, CLAD-Est is one of 8 centres of expertise (HCP) in the AnDDI-Rares stream. The team is responsible for coordinating the teaching and training arm of the ITHACA ERN.