Kabuki Syndrome Foundation Joins European Rare Disease Network ERN ITHACA

We are excited to announce that the Kabuki Syndrome Foundation has been selected to join the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders (ERN ITHACA). This is an exciting development for the Kabuki syndrome community, as it places our mission and work on a major European stage, ensuring that Kabuki syndrome is part of an influential network dedicated to rare conditions.

What is ERN ITHACA?

ERN ITHACA is a patient-centered network that brings together the expertise of highly specialized, multidisciplinary healthcare providers across Europe. Members aim to improve care for individuals affected by rare syndromes, intellectual disabilities, and other neurodevelopmental disorders. ERN ITHACA aims to enhance patient care, improve research outcomes, and create better access to essential information and services for those living with rare conditions.

With members from 25 EU member states, ERN ITHACA facilitates the sharing of best practices, the creation of diagnostic tests, and the development of future therapies. This combination of improvements helps patients receive coordinated, evidence-based care. 

KSF’s Role within ERN ITHACA

Joining ERN ITHACA’s European Patient Advocacy Group (ePAG) is Jessica McAndrew, a Kabuki Syndrome Foundation board member and mother of a three-year-old son with Kabuki syndrome. 

KSF is the only Kabuki syndrome-focused organization involved with ERN ITHACA, and this amplifies our ongoing efforts to raise awareness and drive research into the condition. Being part of this network means that Kabuki syndrome will now be represented on a prominent European stage, offering new opportunities for collaboration with some of the leading experts in rare diseases. 

Dr. Clara Tang, KSF’s Director of Research, added, “Our inclusion in ERN ITHACA opens doors for us to collaborate with world-renowned clinicians and researchers working on rare intellectual disabilities and malformation syndromes.”

We look forward to sharing more updates as our work with ERN ITHACA progresses. If you would like to learn more about ERN ITHACA or how you can support the Kabuki Syndrome Foundation’s efforts, please visit our donate page or sign-up for our newsletter below.