EndoCompass project: research roadmap for growth disorders

Autores de I3PT

• 

  Assumpta Caixàs Pedragós

  Autor

Participantes ajenos a I3PT

• Gevers, EF
• Hokken-Koelega, AC
• Tauber, M
• Binder, G
• Bochukova, EG
• Bouret, SG
• Davies, JH
• Dauber, A
• Edouard, T
• Eggermann, T
• Giabicani, E
• Netchine, I
• Nilsson, O
• Saravinovska, K
• van der Steen, M
• Tartaglia, M
• Tatton-Brown, K
• Temple, IK
• Yart, A
• Zenker, M

Grupos de Investigación

• Obesitat i síndrome de Prader Willi

  

  Investigador

  Assumpta Caixàs Pedragós

Abstract

Background Endocrine science remains underrepresented in European Union research programs despite the fundamental role of hormone health in human wellbeing. Analysis of the CORDIS database reveals a persistent gap between the societal impact of endocrine disorders and their research prioritization. At the national funding level, endocrine societies report limited or little attention of national research funding toward endocrinology. The EndoCompass project-a joint initiative between the European Society of Endocrinology and the European Society of Pediatric Endocrinology, aimed to identify and promote strategic research priorities in endocrine science to address critical hormone-related health challenges.Methods Research priorities were established through comprehensive analysis of the EU CORDIS database covering the Horizon 2020 framework period (2014-2020). Expert consultation in growth disorders was conducted to identify key research priorities, followed by broader stakeholder engagement, including society members and patient advocacy groups.Results Research priorities encompass genetic diagnosis of growth disorders; growth plate-targeted therapies; molecular mechanisms of Silver-Russell syndrome and imprinting disorders; hypothalamic dysfunction in Prader-Willi syndrome; and characterization of Noonan syndrome and tall stature conditions. Emphasis is placed on creating disease registries to facilitate outcome studies and developing precision therapeutics based on growth regulation pathways.Conclusions This component of the EndoCompass project provides an evidence-based roadmap for strategic research investment. This framework identifies crucial investigation areas into growth disorder pathophysiology, prevention, and treatment strategies, ultimately aimed at reducing the burden of these disorders on individuals and society. The findings support the broader EndoCompass objective of aligning research funding with areas of highest potential impact in endocrine health.

Keywords

• short stature; growth hormone; Silver-Russell syndrome; imprinting disorders; Prader-Willi syndrome; Noonan syndrome; tall stature