How ERN-ITHACA Supports Patients and Families?

ERN-ITHACA is a network of European Healthcare Providers (HCPs) with expertise in the management of a multidisciplinary healthcare for patient with rare malformation syndromes and rare intellectual and other neurodevelopmental disorders, both diagnosed and undiagnosed. Through this network, clinicians and researchers across Europe can share expertise, knowledge and resources and give all healthcare providers access to a much larger pool of expertise.

This will result in better chances for patients to receive an accurate diagnosis and advice on the best treatment for their specific rare disease.

When having a rare disease, patients are very likely to meet doctors, even specialists, who have never heard of their condition or just struggle to find the right treatment. Imagine there is more than 5000 rare malformations! When it comes to rare diseases, knowledge is by definition scarce but also very fragmented. Consequently, many patients and their families rely on the internet to search for doctors and healthcare providers with the right expertise.

To put it simply, our goal is to ensure your local health care providers access to any relevant European expertise, regardless of its direct availibility in your country or region, to help them treating you the best possible way.

ERNs are not directly accessible to individual patients but if you are a patient or family member struggling with a rare malformation syndromes and/or intellectual or neurodevelopmental disorders , we encourage you to speak to your local healthcare provider about us. You can let them know about ERN-ITHACA, a multidisciplinary network of highly specialised healthcare professionals from across Europe who may be able to provide expert advice specific to a particular rare genetic disease.

Also, if you have difficulties finding an expert center specialized in such rare disease or localised in such region, you can contact Anne Hugon ( from the ERN-ITHACA team. She will help you finding the relevant center.