CORDIS Project
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This project focuses on developing human cell models for Glanzmann's Disease and Bernard-Soulier syndrome, both rare platelet disorders. By reprogramming patient blood cells, the project aims to investigate the functional alterations in platelets and explore potential genetic therapies.
Glanzmann's Disease, also known as Glanzmann's thrombasthenia (GT), and Bernard-Soulier syndrome (SBS) are autosomal recessive rare platelet disorders, characterized by severe bleeding because of the absence, reduction or dysfunction of several glycoprotein receptor complexes in platelets.
Both normal number and morphology of platelets characterize TG.
However, platelet aggregation ability is seriously compromised.
Over 100 mutations that alter the expression and/or function of glycoproteins IIb…
FUNDACION PUBLICA ANDALUZA PROGRESO Y SALUD M.P.
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