Rare genetic cholestatic liver diseases
Rare genetic cholestatic liver diseases
Bile salt export pump (BSEP) deficiency, also known as PFIC2, is a rare genetic cholestatic liver disease associated with severe morbidity for which very limited therapeutic options exist.
This thesis of Antonia Felzen aimed to advance knowledge in the field of rare genetic cholestatic liver diseases, with a particular focus on BSEP deficiency, by bridging patient-centered clinical research and mechanism-driven fundamental studies. The studies included in this thesis demonstrate that international collaboration through the NAPPED consortium and related initiatives enables systematic characterization of these rare diseases, generating novel insights into their natural history and providing new research tools, including an experimental animal model to study BSEP deficiency.
Through contributions to clinical practice guidelines, this thesis also supports the translation of emerging evidence into clinical care, helping to refine treatment strategies for genetic cholestatic liver diseases and underscoring the essential role of collaboration between physicians, scientists, patients, and other stakeholders in the field.