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Population based Gene Discovery and the Developmental Control of Bipolar gamma/beta Globin Gene Expression

Collaborator:  Prof. AE Felice , Mr Joseph Borg


The proposed research on γ / β globin gene switching addresses fundamental matters in human development while being an equally important aspect of public health because haemoglobinopathies are common genetic disorders across Europe and world-wide. In this we shall continue to employ expansive family studies for gene discovery with the translatability of the data on specific cell systems for quantitative imaging of expression profiles involved in the control of γ / β globin gene switching.

The specific objectives are;

1.   To identify cognate molecules that control the developmental globin gene switch from γ to β  globin gene expression during the course of foetal and adult erythropoiesis with advanced molecular biology and unique population based discovery tools, in particular;

a) Hb F Malta I + Hb F Sardegna + Hb Valletta
b) β thalassaemia with 6 mutations
c) Heterocelullar HPFH

2.   To translate and quantify in erythroid progenitors the chronological & hierarchical assembly of the identified hetero-polymeric regulatory complexes, that may specifically serve to “fix” the assembly of alternate programs of γ / β stochastic gene expression using innovative quantitative imaging cytometry and in vitro replication.


Last Updated: 12 December 2008

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