Session 6: Inherited thrombocytopenias associated with platelet dysfunction - NBEAL2 and others

Speakers: Agnès Ribes

 Agnès Ribes is a senior Lecturer and Hospital Practitioner (MCU-PH) in Haematology and Haemostasis, Faculty of Health, University of Toulouse, Department of Medicine

As a clinical laboratory haematologist, I am focusing on the identification and comprehensive phenotyping of platelet disorders referred to the French National Reference Centre for Platelet Disorders (Centre de Référence des Pathologies Plaquettaires, CRPP). My research aims to decipher the underlying pathophysiological molecular and cellular mechanisms of these abnormalities, and to develop relevant in vivo and in vitro models in close interaction with the INSERM research team co-led by Professor Payrastre and Dr Séverin at the Institute of Metabolic and Cardiovascular diseases (I2MC).

My current research projects include the investigation of the megakaryocyte-platelet axis in the STIM1^R304W/+^ Stormorken syndrome mouse model, with the objective of better understanding calcium-dependent signalling alterations and their impact on platelet production and function.

In parallel, I am involved in the identification of novel biomarkers of the megakaryocyte-platelet-extracellular vesicle axis, with potential relevance to both haematological (including autoimmune and dysplastic disorders, as well as red blood cell diseases) and cardiovascular diseases, in collaboration with different clinical departments at the Toulouse University Hospital.