Evidence-based medicine for rare diseases

Trained as a medical doctor and a care ethicist, I am currently working as a PhD candidate to improve clinical practice guideline development for rare genetic disorders. The aim of my PhD trajectory is to develop a methodological framework for evidence-based clinical practice guideline development, with special attention to the inclusion of experiential knowledge, within the European Reference Network ITHACA for rare malformation syndromes and rare intellectual and neurodevelopmental disorders.