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Pharmacogenomics for Haemoglobinopathies Therapeutics

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Preventive and Predictive Genetics: Towards Personalised Medicine

Part of the book series: Advances in Predictive, Preventive and Personalised Medicine ((APPPM,volume 9))

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Abstract

Individual genetic composition has a fundamental role in the variations observed in drug response and tolerance. Pharmacogenomics aims to delineate the individual genetic profiles and drug response/toxicity. Nowadays, there are several medical disciplines where pharmacogenomics is readily applicable, while in others its usefulness is yet to be shown. Recent experimental evidence suggest that single nucleotide polymorphisms (SNPs) in modifier genes residing outside the human β-globin cluster are significantly associated with response to hydroxyurea (HU) treatment in β-type haemoglobinopathies patients, deducted from the increase in foetal haemoglobin levels. This chapter aims to provide an update and to discuss future challenges on the application of pharmacogenomics for β-type haemoglobinopathies therapeutics in relation to the current pharmacological treatment modalities for those disorders and the complexity of their pathophysiology.

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Acknowledgements

We wish to thank Professors Frank Grosveld, Alex E. Felice, Sjaak Philipsen, Drs. Adamantia Papacatzopoulou, Joseph Borg, Sonja Pavlovic, Marios Phylactides, Marina Kleanthous, Alexandra Kourakli, Marianthi Georgitsi and Mrs. Christina Tafrali, Marina Bartsakou-lia, Arsinoi Paizi, Emily Giannopoulou, and Olga Giannakopoulou for their contribution at the various stages of our projects related to pharmacogenomics for haemoglobinopathies. Our work is supported by a RDF (Cyprus, ΠΔΕ046_02) and European Commission (ITHANET Coordination action 026539) grants to GPP.

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Authors and Affiliations

  1. School of Health Sciences, Department of Pharmacy, University of Patras, University Campus, Rion, 26504, Patras, GR, Greece

    Aikaterini Gravia, Vasiliki Chondrou, Theodora Katsila & George P. Patrinos

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  1. Aikaterini Gravia
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  2. Vasiliki Chondrou
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  4. George P. Patrinos
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Correspondence to George P. Patrinos .

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  1. Pathology Department, University of Malta, Msida, Malta

    Godfrey Grech

  2. IsraGene, Yakir, Israel

    Iris Grossman

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Gravia, A., Chondrou, V., Katsila, T., Patrinos, G. (2015). Pharmacogenomics for Haemoglobinopathies Therapeutics. In: Grech, G., Grossman, I. (eds) Preventive and Predictive Genetics: Towards Personalised Medicine. Advances in Predictive, Preventive and Personalised Medicine, vol 9. Springer, Cham. https://doi.org/10.1007/978-3-319-15344-5_7

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  • DOI: https://doi.org/10.1007/978-3-319-15344-5_7

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