Rare Disease Committee

Chairs: Simona Glasberg and Alberto Pereira

Committee Remit

  • To develop a specific policy of ESE towards rare endocrine and metabolic diseases.
  • To foster collaboration, cooperation and coordination of activities in the area of rare diseases between ESE and Endo-ERN (including EURRECA) that are relevant to the activities of ESE, such as:
    • To assess educational needs and find collaborative solutions for rare disease-relevant educational platforms for healthcare professionals and patients, focusing on improving QoL, transition from pediatric to adult care and the prevention of, and long-term management of complications and co-morbidities.
    • Clinical guidelines.
    • Endo-ERN activities at the annual European Congress of Endocrinology through representation on the ECE POC.
  • To develop collaborations with other ERNS and specialist societies operating in the rare-endocrine disease and metabolic landscape, ensuring optimal outcome for collective efforts at the institutional level.
  • To raise awareness of research and clinical trials into rare endocrine and metabolic diseases and support efforts to ensure this area receives appropriate focus from funding bodies.
  • To promote and facilitate cross-border care and multidisciplinary consultation, supporting ERN’s efforts in ensuring access to appropriate diagnostic tools and improved remote support through telemedical innovations.
  • To improve awareness and engagement of researchers and clinicians with rare-diseases registries for the benefit of patient outcomes.
  • To provide a platform for collaboration with Patient Advocacy Groups ensuring ESE and ERNs continue to support Patient-led and patient-centered initiatives in healthcare.
  • To raise public awareness of rare-diseases through collaboration with European institutions and relevant national and international organisations.
  • To manage the allocation of budget in relation to rare diseases activity.

Committee Membership

  • Simona Glasberg, Israel, co-chair (2019–2023).
  • Alberto Pereira, Netherlands, co-chair (2019-2023).

ESE representatives:

  • Krystallenia Alexandraki, Greece, (2020-2024).
  • Maralyn Druce, UK, (2020-2024).
  • Diego Ferone, Italy, (2020-2024).
  • Maria Luisa Brandi, Italy (2020-2024).
  • Felipe Casanueva, Spain (2020-2024).

Endo-ERN representatives:

  • Faisal Ahmed, UK, 2020-2024), (PI of EuRRECa).
  • Gudmundur Johannsson, Sweden, (2020-2024).
  • Nicole Reisch, Germany, (2020-2024).
  • Frederic Castinetti, France, (2020-2024).

Ex-Officio Members

  • Martin Reincke, Germany, co-terminous with office (President, 2021-2023).
  • Jérôme Bertherat, France, co-terminous with office (President-Elect, 2021-2023).
  • Martin Fassnacht, Germany, co-terminous with office (Science Committee Chair, 2021-2025).
  • Robin Peeters, Netherlands, co-terminous with office (Clinical Committee Chair, 2021-2023).
  • Mirjam Christ-Crain, Switzerland, co-terminous with office (Education Committee Chair, 2020-2024).

ESE Team member responsibility: Scientific Programmes Manager.