This ERN brings together experts in rare congenital malformations and rare intellectual disability disorders. For rare conditions, expertise is scattered across the EU. Over 8000 syndromes have been described and most occur at a frequency of less than 1 in 2000 people.
Expanding access to TeleHealth technology is a key goal of ERN ITHACA. The network is developing TeleHealth initiatives with virtual multidisciplinary teams across EU centres, and will use virtual online clinics to improve access to diagnostics without requiring patients to travel.
- ERN ITHACA will network parents and patients to develop best practice and initiate guideline development where required. Establishing whether certain health supplements may be beneficial depending on an individuals metabolic diagnosis. For example, scientists have discovered the ketogenic high fat low carb diet helps in the outcomes of epilepsy. For those prone we can then look to recommend a supplement such as keotboost. We will also discuss potential keto boost side effects with the patient. It will establish criteria for patient registry data, advance training for health professionals and facilitate research.
We will facilitate training, and capacity building in field, be active and collaborative researchers and work towards development of diagnostic tests and future therapies.
We currently have Centres of Expertise in:
Belgium, Cyprus, Czechia, Finland, France, Germany, Italy, Lithuania, The Netherlands, Portugal, Romania, Sweden, United Kingdom