To achieve some of its objectives,  ITHACA also draws on other national/international/European initiatives:

  • Orphanet, an European website that provides an inventory and classification of rare diseases (RDs), with each entry having its own ORPHA code, an encyclopaedia of expert-authored and peer-reviewed review articles, various clinical guidelines, diagnostic criteria, guidance for genetic testing, disability factsheets etc., and a directory of services (clinics, laboratories, research projects, registries, clinical trials, patient organisations).
  • The European Joint Project on Rare Disorders (EJP-RD), an EU-wide, patient-centred co-funding initiative to foster research on RDs. The goals of EJP-RD include structuring actions with the ERNs. The EJP-RD Co-fund is implemented through a joint programme with 20 WPs grouped within four pillars.
  • To contact the EJP RD Help Desk : please follow the link here
  • The Solve RD H2020 initiative (“Solve-RD – solving the unsolved rare diseases”), a research project funded by the European Commission for five years (2018-2022) through the Horizon 2020 programme. ITHACA is a key contributing partner to this pan-European research project and the coordinator of ITHACA is an ex officio member of the Solve-RD Steering committee.
  • The International Rare Diseases Research Consortium (IRDiRC) unites national and international governmental and non-profit funding bodies, companies (including pharmaceutical and biotech enterprises), umbrella patient advocacy organizations, and scientific researchers to promote international collaboration and advance rare diseases research worldwide. Importantly, the coverage of the Consortium is global and involves stakeholders from Africa, Asia, Australia, North America, and Europe
  • Rare 2030 is a foresight study that gathers the input of a large group of patients, practitioners and key opinion leaders to propose policy recommendations that will lead us to improved policy and a better future for people living with a rare disease in Europe. This a two year project that will end in a presentation to parliament at the end of 2020 with recommendations on the most critical areas needing sound policy
  • Share4Rare is an European project which aims to improve the quality of life of those affected by a rare disease. By working together, we can build a community to transform rare diseases into known diseases by advancing research and sharing knowledge

ECRIN aims to generate scientific evidence to optimise medical practice. To achieve this vision, ECRIN supports the conduct of multinational clinical research in Europe by managing and supporting clinical trials across borders, connecting networks, and advising and implementing policy, ECRIN advances knowledge flow, competitiveness and integration in European clinical research.

BBMRI-ERIC is an European research infrastructure for biobanking which brings together all the main players from the biobanking field : researchers, biobankers, industry, and patients – to boost biomedical research. To that end, it offers quality management services, support with ethical, legal and societal issues, and a number of online tools and software solutions for biobankers and researchers. Ultimately, the goal is to make new treatments possible.

RD-Connect is an international community working towards accelerating rare disease research worldwide by provision of the global RD-Connect Platform that facilitates research on rare diseases by connecting databases, patient registries, biobanks and clinical bioinformatics data into a central resource for researchers worldwide.

The goal of ELIXIR is to coordinate these resources so that they form a single infrastructure.This infrastructure makes it easier for scientists to find and share data, exchange expertise, and agree on best practices. Ultimately, it will help them gain new insights into how living organisms work.