Workpackage lead

Pr Laurence Faivre (Dijon, France)

Pr Jill Clayton-Smith (Manchester, UK)

Key objectives

The objective here is to organise a programme for teaching and training activities to increase and disseminate skills and knowledge in the field of developmental anomalies and ID, and apply them to patient care. Training will be developed through different means: direct actions such as collaboration with European university programmes in Genetics and Developmental Biology, or trainee exchange programmes and meetings for young geneticists, as well as through supporting calls such as the CEF-Telecom project (2018 call), and the involvement of ITHACA in WP16 of the EJP-RD (see 1.2.2).

We will assess the number of formal educational activities (i.e. those accruing higher educational credits) or traineeships aimed at healthcare professionals organised by the ERN; the number of meetings of the Young Geneticists Network; the number of contributions to Orphanet (clinical summaries, entry coding…); the number of educational webinars or other digital educational tools aimed at healthcare professionals developed by the ERN.


  • Master 2 in ITHACA field

    Set up a module in a European Master’s in Genetics programme : teaching on disease biology and genetics of rare IDs and congenital anomalies open to ITHACA trainees and fellows as well as other Master’s students.

  • Develop eLearning for non-specialists

    Develop a web-based learning tool for non-specialists to handle patients with ID/developmental anomalies to Improve awareness and training of non-specialists to orient and handle patients with rare ID and/or developmental anomalies.

  • ELearning module for specialists

    Develop an eLearning module in collaboration with the Young Geneticists Network for specialists to handle ID/developmental anomalies and/or other aspects within ITHACA field of excellence.