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Generation of human experimental models of Bernard-Soulier Syndrome and Glanzmann Disease using cellular reprogramming


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-IIIa (GP IIb-IIIa, or CD41 and CD61) have been described in TG patients. These membrane proteins are members of the integrin superfamily and participate in protein-protein interactions necessary for platelets aggregation and clot formation.
Thrombocytopenia, large platelets and frequent bleeding characterize SBS. This disease is caused by mutations in one of the three genes coding for the glycoprotein complex (GP)-IX-V 1b (CD42b-CD42a, CD42d), which function as a receptor for vWF, also affecting platelet adhesion and aggregation. In both cases, current palliative treatment is limited to blood transfusions and DDAVP (desmopressin).
We propose the development of human cell models for TG and SBS by reprogramming blood cells from patients with these diseases. Then, we will study if the megakaryocytes and platelets derived from these cells keep the same functional alterations that occur in these patients. Finally, we will introduce a normal copy of the mutated gene in reprogrammed cells and we will analyse if genetic and functional rescues happen.

Field of science

  • /natural sciences/biological sciences/genetics and heredity/mutation
  • /natural sciences/biological sciences/biochemistry/biomolecules/proteins
  • /natural sciences/biological sciences/biochemistry/biomolecules/proteins/proteomics

Call for proposal

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Funding Scheme

MC-IEF - Intra-European Fellowships (IEF)


Avenida Americo Vespucio 15 Edif S2
41092 Sevilla
Activity type
Research Organisations
EU contribution
€ 173 370,60
Administrative Contact
Esther Guirado (Mrs)