ESE 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)

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

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

Ex-Officio Members

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.