Characterisation of novel thalassaemia and abnormal haemoglobin mutations in the UK population. We are currently focusing on delta globin gene mutations and normal HbA2 beta thalassaemia.
Development of new methodologies for prenatal diagnosis of haemoglobinopathies by fetal DNA analysis. We are currently focussing on the utilisation of pyrosequencing for globin gene mutation diagnosis.
Investigation of techniques for the non-invasive prenatal diagnosis of haemoglobinopathies by analysis of cell free fetal DNA. This work is being done in collaboration with the RAPID research programme (principal investigator - Professor Lyn Chitty).
Investigation of the causes of increased fetal haemoglobin production in adults. This project involves the characterisation of gamma globin gene mutations and other un-linked genetic factors associated with elevated fetal haemoglobin levels, determining the spectrum and gene frequency of these mutations in the UK population, and studying population variations in globin gene switching.
Development of the Ithanet Portal, an electronic resource for the international thalassaemia community (www.ithanet.eu) in collaboration with colleagues in the Cyprus Institute of Neurology and Genetics, Nicosia.