Clinical Endocrinology Trust Award

Alberto Pereira

Clinical Endocrinology Trust Award

For research addressing aspects of endocrinology at the forefront of clinical practice

Setting the scene for (rare) endocrine diseases in Europe

My research focuses on the long term consequences of pituitary diseases, and on the effects of stress hormones on the central nervous system (CNS) specifically. This has elucidated the long term effects of hormone excess on the CNS, as well as on other organs that affect stress resilience and, consequently, general well-being and quality of life. This profoundly affects our understanding of the biological effects of stress hormone excess on the CNS, and on the care of patients with specific rare endocrine conditions.

Endocrine tumours are characterised by low incidence, genetic predisposition (either isolated or as manifestation of a hereditary tumour syndrome), abnormal hormone secretion and expression of hormone receptors, specific genetic patterns and generally slow growth. Their special biology provides unique opportunities for systems biology and for development of targeted therapies. The complexity precludes diagnosis and treatment modalities from fitting into standard concepts of care, and the low prevalence means that screening and clinical decision making are very important.

The establishment of the European Reference Networks provided a foundation to improve quality, safety and access to highly specialised healthcare across Europe for patients affected by rare or low prevalence and complex conditions. The European Reference Network on Rare Endocrine Conditions (Endo-ERN) covers specific expertise from birth to senescence. It gives equal responsibilities to patient representatives and healthcare providers. The scope and mission of Endo-ERN are complex but, ultimately, its work in reducing healthcare inequalities across Europe will thrive.

‘Endo-ERN covers specific expertise from birth to senescence. It gives equal responsibilities to patient representatives and healthcare providers.’