PLATELET DISORDERS

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

Coordinatore	FUNDACION PUBLICA ANDALUZA PROGRESO Y SALUD    more  Organization address city: SEVILLA postcode: 41092 contact info Titolo: Mrs Nome: Esther Cognome: Guirado Email: send email Telefono: +34 954 71 22 58
Nazionalità Coordinatore	Spain [ES]
Totale costo	173˙370 €
EC contributo	173˙370 €
Programma	FP7-PEOPLE Specific programme "People" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013)
Code Call	FP7-PEOPLE-2013-IEF
Funding Scheme	MC-IEF
Anno di inizio	2015
Periodo (anno-mese-giorno)	2015-01-14   -   2017-01-13

 Partecipanti

#	participant	country	role	EC contrib. [€]
1	FUNDACION PUBLICA ANDALUZA PROGRESO Y SALUD  Organization address city: SEVILLA postcode: 41092 contact info Titolo: Mrs Nome: Esther Cognome: Guirado Email: send email Telefono: +34 954 71 22 58	ES (SEVILLA)	coordinator	173˙370.60

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 Obiettivo del progetto (Objective)

'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.'