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.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.
- natural sciences biological sciences biochemistry biomolecules proteins proteomics
- natural sciences biological sciences genetics mutation
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Programme(s)
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Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Topic(s)
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Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Call for proposal
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Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
FP7-PEOPLE-2013-IEF
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Funding Scheme
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Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Coordinator
41092 Sevilla
Spain
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