Our Mission Statement

We seek to provide a patient centred network which will meet the needs of those with rare congenital malformation and intellectual disability syndromes, both diagnosed and undiagnosed. We will provide an infrastructure for diagnosis, evidence-based management and collection of secure patient data. Members of the network will share best practice and disseminate guidelines to optimise and improve coordination of patient care. We will facilitate training, and capacity building in field, be active and collaborative researchers and work towards development of diagnostic tests and future therapies

Our purpose

  • Networks

    Establishing a fully functioning European Reference Network (ERN), wide geographical coverage across the EU and a clear governance, accounting and coordination structure and to put in place measures to evaluate its activities, and collaborating closely with other established reference networks and centres of expertise

  • Highly specialised healthcare

    Providing highly specialised, multidisciplinary healthcare for patients with rare malformations, malformation syndromes and rare intellectual disability

  • Telemedicine

    Using innovative telehealth approaches, to facilitate access to diagnosis for patients with with rare malformations, malformation syndromes and rare intellectual disability, especially from member states where diagnostic services are less well developed

  • Expert consensus statements

    Developing capacity to appraise and produce high quality, evidence based guidelines for with rare malformations, malformation syndromes and rare intellectual disability and to disseminate, utilise and evaluate these

  • Patient registries

    Curating high quality, secure, patient registries which can be used to further knowledge of natural history of with rare malformations and malformation syndromes and rare intellectual disability and research

  • Research activities in RD

    1. Fostering research into with rare malformations and malformation syndromes and rare intellectual disability and to facilitate clinical trials of new therapies
    2. Teaching and Training. Organising a programme of teaching and training activities to increase and disseminate skills and knowledge in the field of with rare malformations and malformation syndromes and rare intellectual disabilityand how to apply these for patient care

  • Empowering patients and support groups

    Carrying out all of the above in equal partnership with patients, parents and lay organisations

Our services

  • Network coordination

    • Linking health professionals together within our ERN and to other networks
    • Linking patients/lay groups and health professionals
    • Providing and curating infrastructure for communication and dissemination of a wide range of clinical and educational material
    • Organising board and steering group meetings
    • Defining outcome measures/key performance indicators which we will use for audit and evaluation

  • Clinical services in a virtual environment

    • Designing, utilising and evaluating a new TeleHealth platform for diagnosis and data sharing
    • Setting up a “virtual clinic” to improve access of patients to clinical expertise
    • Dissemination of best practice guidelines which we have collated, reviewed, refined (translated) to improve patient care

  • Non-clinical services

    Generating knowledge through data gathering and sharing
    Dissemination knowledge to improve patient care
    Improving opportunities for training
    Fostering research collaborations and outputs