Dr Joseph Borg

Dr Joseph Borg

Lecturer, Applied Biomedical Science

Dr Joseph Borg graduated B.Sc. (Hons) in Medical Laboratory Science in 2004 and M.Sc. in Molecular Genetics (Pathology) in 2007. He then went on to conduct Ph.D. studies in the field of molecular genetics with special interest in globin gene regulation and control. Dr Borg conducted part of his Doctoral work at the Erasmus Medical Center in Rotterdam, The Netherlands and concluded his work at the University of Malta in the year 2010. He was awarded both a Maltese Government Scholarship Scheme (MGSS) and a short-term EMBO fellowship for the duration of his doctoral work. Dr Borg’s research resulted in two high-impact publications in Nature Genetics.

Dr Borg is currently a resident academic full-time lecturer with the Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta. He lectures in both basic principle techniques and biochemistry of haemoglobin. The current research projects include the transcriptional regulation of globin gene switching, induction of foetal haemoglobin, and deep phenotyping of rare anaemias. His work is actively carried out in collaboration with the Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta.

Research interest: Genetics, Molecular Biology, Erythropoiesis, Cell Biology, Pharmacogenomics, Whole Genome Sequencing

The KLF1 Gene – A Maltese Discovery

Selected Publications:

  • Giardine, B., Borg, J., Viennas, E., Pavlidis, C., Moradkhani, K., Joly, P., Bartsakoulia, M., Riemer, C., Miller, W., Tzimas, G., Wajcman, H., Hardison, R.C. & Patrinos, G.P. 2014, “Updates of the HbVar database of human hemoglobin variants and thalassemia mutations”, Nucleic Acids Research, vol. 42, no. database issue, pp. D1063-9.
  • Kampourakis, K., Vayena, E., Mitropoulou, C., van Schaik, R.H., Cooper, D.N., Borg, J. & Patrinos, G.P. 2014, “Key challenges for next-generation pharmacogenomics: Science & Society series on Science and Drugs.”, EMBO reports, vol. 15, no. 5, pp. 472.
  • Tafrali, C., Paizi, A., Borg, J., Radmilovic, M., Bartsakoulia, M., Giannopoulou, E., Giannakopoulou, O., Stojiljkovic-Petrovic, M., Zukic, B., Poulas, K., Stavrou, E.F., Lambropoulou, P., Kourakli, A., Felice, A.E., Papachatzopoulou, A., Philipsen, S., Pavlovic, S., Georgitsi, M. & Patrinos, G.P. 2013, “Genomic variation in the MAP3K5 gene is associated with ?-thalassemia disease severity and hydroxyureatreatment efficacy.”, Pharmacogenomics, vol. 14, no. 5, pp. 469.
  • Borg, J., Phylactides, M., Bartsakoulia, M., Tafrali, C., Lederer, C., Felice, A.E., Papachatzopoulou, A., Kourakli, A., Stavrou, E.F., Christou, S., Hou, J., Karkabouna, S., Lappa-Manakou, C., Ozgur, Z., van Ijcken, W., von Lindern, M., Grosveld, F.G., Georgitsi, M., Kleanthous, M., Philipsen, S. & Patrinos, G.P. 2012, “KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyureatreatment in ?-hemoglobinopathy patients.”, Pharmacogenomics, vol. 13, no. 13, pp. 1487.
  • Squassina, A., Severino, G., Grech, G., Fenech, A., Borg, J. & Patrinos, G.P. 2012, “Golden Helix Pharmacogenomics Days: educational activities on pharmacogenomics and personalized medicine”, Pharmacogenomics, vol. 13, no. 5, pp. 525.
  • Borg, J., Patrinos, G.P., Felice, A.E. & Philipsen, S. 2011, “Erythroid phenotypes associated with KLF1 mutations.”, Haematologica, vol. 96, no. 5, pp. 635.
  • Giardine, B., Borg, J., Higgs, D.R., Peterson, K.R., Philipsen, S., Maglott, D., Singleton, B.K., Anstee, D.J., Basak, A.N., Clark, B., Costa, F.C., Faustino, P., Fedosyuk, H., Felice, A.E., Francina, A., Galanello, R., Gallivan, M.V., Georgitsi, M., Gibbons, R.J., Giordano, P.C., Harteveld, C.L., Hoyer, J.D., Jarvis, M., Joly, P., Kanavakis, E., Kollia, P., Menzel, S., Miller, W., Moradkhani, K., Old, J., Papachatzopoulou, A., Papadakis, M.N., Papadopoulos, P., Pavlovic, S., Perseu, L., Radmilovic, M., Riemer, C., Satta, S., Schrijver, I., Stojiljkovic, M., Thein, S.L., Traeger-Synodinos, J., Tully, R., Wada, T., Waye, J.S., Wiemann, C., Zukic, B., Chui, D.H., Wajcman, H., Hardison, R.C. & Patrinos, G.P. 2011, “Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach”, Nature Genetics, vol. 43, no. 4, pp. 295.
  • Patrinos, G.P., Al Aama, J., Al Aqeel, A., Al-Mulla, F., Borg, J., Devereux, A., Felice, A.E., Macrae, F., Marafie, M.J., Petersen, M.B., Qi, M., Ramesar, R.S., Zlotogora, J. & Cotton, R.G. 2011, “Recommendations for genetic variation data capture in developing countries to ensure a comprehensiveworldwide data collection.”, Human Mutation, vol. 32, no. 1, pp. 2.
  • Squassina, A., Manchia, M., Borg, J., Congiu, D., Costa, M., Georgitsi, M., Chillotti, C., Ardau, R., Mitropoulos, K., Severino, G., Del Zompo, M. & Patrinos, G.P. 2011, “Evidence for association of an ACCN1 gene variant with response to lithium treatment in Sardinian patients with bipolar disorder.”, Pharmacogenomics, vol. 12, no. 11, pp. 1559.
  • Borg, J., Papadopoulos, P., Georgitsi, M., Gutiérrez, L., Grech, G., Fanis, P., Phylactides, M., Verkerk, A.J., van der Spek, P.J., Scerri, C.A., Cassar, W., Galdies, R., van Ijcken, W., Ozgür, Z., Gillemans, N., Hou, J., Bugeja, M., Grosveld, F.G., von Lindern, M., Felice, A.E., Patrinos, G.P. & Philipsen, S. 2010, “Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.”, Nature Genetics, vol. 42, no. 9, pp. 801.