What We Do

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 share best practice and disseminate guidelines to optimise and improve coordination of patient care. We facilitate training and capacity building in field, and work towards development of diagnostic tests and future therapies.

Our purpose


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

Our Workgroups

From Workpackage 4 – CPMS

Clinical Patient Management system (CPMS)

By promoting innovative telehealth approaches such as the CPMS, a plateform for virtual discussions of clinical cases, we aim to facilitate access to diagnosis for patients with rare malformations, malformation syndromes and rare intellectual disability, especially from Member States where health services are less developed

From Workpackage 5 – Other digital activities

Other Digital Activities

This workgroup is meant to coordinate all digital activities of the ERN-ITHACA (such as the develoment of a medical imaging database) and more specifically support the rare disease patient registry (see description of the Registery Workgroup below) while paving the way to make available the thereby health data collected and shareable to all stakeholders.

From Workpackage 6 – Training & Education

Teaching & Training

Throught this workgroup, we aim at organising a programme of teaching and training activities to increase and disseminate skills and knowledge in the field of rare malformations and rare intellectual disability.eneticists and healthcare professionals in the future. A number of seminars/conferences/workshops will be supported through ERN ITHACA activities, especially to enhance participation and training of young healthcare professionals.


The ERN ITHACA is launching an online and interactive textbook of medical genetics, with the collaboration of multiple authors from ITHACA’s network and other ERNs. This project aims to establish a free and open access interactive, asynchronous training source in medical genetics.

From Workpackage 7 – Research

Research and Innovation

This workgroup is meant to foster research upon rare malformations and rare intellectual disability and to facilitate clinical trials of new therapies. It is also responsible for the ERN Training Exchange Program.

From Workpackage 8 – Registery

ILIAD registry

The ERN ITHACA is developing a federative“meta-registry” called ILIAD able to connect the 71 HCPs, multiple external databases, and biobanks across the EU for patients with developmental syndromes and/or NDD and to offer a secure repository of patient data that could be used for medical knowledge discovery, epidemiology, evidence-based management, and to support clinical research.

From Workpackage 9 – Share, Care & Cure: Neurodevelomental disorders

Neurodevelomental Disorders

This Workgroup is dedicated to rare genetic intellectual deficiencies, the improvement of our knowledge and understanding of these disorders, which number in the thousands but are poorly known for the most part.

Expert consensus statements

Developing capacity to appraise and produce high quality, evidence based guidelines for both neurodevelopmental and developmental rare syndromes and to disseminate, utilise and evaluate these

From Workpackage 10 – Share, Care & Cure: Develomental disorders

Fetal Medicine

The Foetal Medicine WG focuses on generating and sharing knowledge on foetal medicine, particularly through activities such as the close collaboration with the Human Phenotype Ontology for the expansion of HPO for foetal phenotypes, a mapping of the prenatal diagnostics strategies in place in different Member States, and through the organisation of a congress on Foetal medicine, accompanied by a winter school dedicated to young professionals that want to deepen their knowledge in the area.

Spina Bifida

Spina Bifida is a congenital malformation syndrome that requires a multidisciplinary expertise mostly covered by two ERNs, ITHACA and eUROGEN. The spina bifida workgroup has thus the particularity to be a cross-ERN WG. It mainly focuses on producing care documents and guidelines for both ERNs.

Expert consensus statements

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

Our Advisory Boards

Empowering patients and support groups: Patient Advisory Group

Patients’ voices have to be at the core of the network. By establishing a Patient Advisory Board, we strive to develop an even closer cooperation with ePAGs and patient organisations and to ensure that all activities of ITHACA include patients, their families, and patients’ organisations as equal partners.

Ethical, Legal and Social Issues: ELSI Advisory Board