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Rare Disease Committee

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

Sebastian Neggers, Netherlands, Co-Chair (2023-2027)
Alberto Pereira, Netherlands, Co-Chair (2019-2025)

  • 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)
  • Faisal Ahmed, UK(2020-2024), (PI of EuRRECa)*
  • Gudmundur Johannsson, Sweden (2020-2026)
  • Nicole Reisch, Germany (2020-2024)
  • Frederic Castinetti, France (2020-2024)

*Marek Niedziela (Poland) will replace Faisal Ahmed (UK) as the ESPE Representative in 2024.

  • Jérôme Bertherat, France, co-terminous with office (President, 2023-2025)
  • Wiebke Arlt, UK, co-terminous with office (President-elect, 2023-2025)
  • Eleanor Davies, UK, co-terminous with office (Science Committee Chair, 2023-2027)
  • Martin Fassnacht, Germany, co-terminous with office (Clinical Committee Chair, 2021-2025)
  • Mirjam Christ-Crain, Switzerland, co-terminous with office (Education Committee Chair, 2020-2024)
  • Barbara Altieri, Germany, EYES Committee Representative (2022-2026)

ESE Team member responsibility: Head of Scientific Programmes.