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Construction of a mouse model of g6pd deficiency

Objective



The clinical problem. Glucose-6-phosphate dehydrogenase (G6PD) deficien is the most prevelant human enzymopathy. In its common form it is associated with an acute haemolytic anaemia which may be life threatening, particularily in children. It is also a major cause of neonatal jaundice, which in severe cases can lead to permenant neurological damage.The high frequencies are due to deficient alleles conferring a selective advantage against malaria infection by an unknown mechanism and reach 10% or more in parts of Southern Europe (Greece, Southern Italy). Rarely, G6PD deficiency is the cause of chronic nonspherocytic haemolytic anaemia, which may result in a life-long transfusion requirement.
The overall objectives. The objectives of the present proposal are to gain a better understanding of the molecular pathology of G6PD deficiency by creating an animal model in which a complete study of the molecular disfunctions ocurring in blood, bone marrow and other organs can be assessed. Additionally, this work has clear long term implications for gene therapy.

Funding Scheme

RGI - Research grants (individual fellowships)

Coordinator

Royal Postgraduate Medical School
Address
150,Du Cane Road
W12 0NN London
United Kingdom

Participants (1)

Not available
Spain