Prof. Joseph Borg

Prof. Joseph Borg

Prof. Joseph Borg

  B.Sc.(Hons)(Melit.),M.Sc.(Melit.),Ph.D.(Melit.)

Associate Professor

Room 26
Block A, Level 1
Mater Dei Hospital
Msida
  +356 2340 1145
Joseph initially undertook the studies of applied biomedical science in the former Institute of Health Care, now Faculty of Health Sciences, University of Malta and subsequently followed specialised training in Molecular Genetics and Haematology. His research career began in 2004 when he formally joined the Laboratory of Molecular Genetics, Department of Physiology and Biochemistry (University of Malta) as an MSc student and participated in the final stages of the GEOPARKINSON project, an FP5 EU-funded project (QLK4-CT-1999-01133). In 2006, Joseph enrolled as a research assistant on an FP6 EU-funded project – Infrastructure for Thalassaemia Research Network (ITHANET RI-2004-026539) that started his career in experimental haematology and haemoglobin genetics. Subsequent work unveiled the molecular genetics of the HPFH KLF1-related condition (OMIM 613566) and established KLF1 as a novel quantitative trait locus for HbF (HBFQTL6). He has now published over a 100 publications that include both conference and peer-reviewed articles. His highest accolades include two high impact first-author publications in Nature Genetics, EMBO J, Haematologica, Human Mutation and Pharmacogenomics.

Joseph's current research interests as an academic with the Department of Applied Biomedical Science continue to focus on the molecular genetics of developmental globin gene switching and control. Together with his Borg Group he conducts extensive research on KLF1 erythroid-specific transcription factor, utilising both genomic (DNA-based) and transcriptomic (RNA-based) approaches in in-vitro (cell cultures) and in-vivo (clinical patients) models.

He is now also a member of the Analysis Working Group at the Nasa Gene Lab, USA run by Afshin Behesti and the ESA Space Omics Topical Team, studying amongst others the effects of spaceflight on erythropoiesis for both astronauts living on board the ISS and other missions and a range of mouse model organisms sent to space and back. This work is also done in collaboration with Christopher Mason at the Institute for Computational Biomedicine, Weill Cornell Medicine, USA.
  • Genetics
  • Cell Biology
  • Erythropoiesis
  • Molecular Biology
  • Pharmacogenomics
  • Whole Genome Sequencing
  • Impact of genetic engineering

VELLA, J., BORG, J., GRECH, L., GALDIES, R., SCERRI, J., CASSAR, W., SCERRI, C.A., GRECH, G., SOLER, D., SAID, E., BORG, I., VELLA, N.R., CAMILLERI PODESTA, M.T., ELLUL, B., FELICE, T., GRIMA, D., ZAMMIT, E., SAID CONTI, V., PACE, N.P. and FELICE, A.E., 2015. Rare Disease Research and the Malta BioBank, RD-Connect Annual Meeting 2015.

FORMOSA, M., BORG, J., BEZZINA WETTINGER, S., FARRUGIA, R. and XUEREB, A., 2014. A mutation in the LRP4 gene is associated with bone mineral density in Maltese postmenopausal women. 2014, pp. P04.05-S page 97.

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. and PATRINOS, G.P., 2014. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Research, 42(database issue), pp. D1063-9.

GRAVIA, A., CHONDROU, V., SGOUROU, A., PAPANTONI, I., BORG, J., KATSILA, T., PAPACHATZOPOULOU, A. and PATRINOS, G.P., 2014. Individualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patients.
. Pharmacogenomics, 15(10), pp. 1355-1364.

KAMPOURAKIS, K., VAYENA, E., MITROPOULOU, C., VAN SCHAIK, R.H., COOPER, D.N., BORG, J. and PATRINOS, G.P., 2014. Key challenges for next-generation pharmacogenomicsScience & Society series on Science and Drugs.. EMBO reports, 15(5), pp. 472.

MIZZI, C., PETERS, B., MITROPOULOU, C., MITROPOULOS, K., KATSILA, T., AGARWAL, M.R., VAN SCHAIK, R.H., DRMANAC, R., BORG, J. and PATRINOS, G.P., 2014. Personalized pharmacogenomics profiling using whole-genome sequencing
. Pharmacogenomics, 15(9), pp. 1223-1234.

PACIARONI, K., LUCARELLI, G., MARTELLI, F., MIGLIACCIO, A.R., VON LINDERN, M., BORG, J., GILLEMANS, N., VAN DIJK, T., and PHILIPSEN, S., 2014. Transfusion-independent β(0)-thalassemia after bone marrow transplantation failureproposed involvement of high parental HbF and an epigenetic mechanism.. American Journal of Blood Research, 4(1), pp. 27-32.

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. and PATRINOS, G.P., 2013. Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyureatreatment efficacy.. Pharmacogenomics, 14(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. and PATRINOS, G.P., 2012. KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyureatreatment in β-hemoglobinopathy patients.. Pharmacogenomics, 13(13), pp. 1487.

SQUASSINA, A., SEVERINO, G., GRECH, G., FENECH, A., BORG, J. and PATRINOS, G.P., 2012. Golden Helix Pharmacogenomics Dayseducational activities on pharmacogenomics and personalized medicine. Pharmacogenomics, 13(5), pp. 525.

BORG, J., PATRINOS, G.P., FELICE, A.E. and PHILIPSEN, S., 2011. Erythroid phenotypes associated with KLF1 mutations.. Haematologica, 96(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. and PATRINOS, G.P., 2011. Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nature Genetics, 43(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. and COTTON, R.G., 2011. Recommendations for genetic variation data capture in developing countries to ensure a comprehensiveworldwide data collection.. Human Mutation, 32(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. and PATRINOS, G.P., 2011. Evidence for association of an ACCN1 gene variant with response to lithium treatment in Sardinian patients with bipolar disorder.. Pharmacogenomics, 12(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. and PHILIPSEN, S., 2010. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.. Nature Genetics, 42(9), pp. 801.

BORG, J., GEORGITSI, M., ALEPOROU-MARINOU, V., KOLLIA, P. and PATRINOS, G.P., 2009. Genetic recombination as a major cause of mutagenesis in the human globin gene clusters.. Clinical Biochemistry, 42(18), pp. 1839.

VIDAL, C., BORG, J., XUEREB-ANASTASI, A. and SCERRI, C.A., 2009. Variants within protectin (CD59) and CD44 genes linked to an inherited haplotype in a family with coeliac disease.. Tissue Antigens, 73(3), pp. 225.

  • FEH5019 - Fundamental Studies in Nutrition and Dietetics
  • MLS1001 - Introduction to Biomedical Biochemistry and Cell Biology
  • MLS2018 - Haematopathology
  • MLS2019 - Diagnostic Laboratory Haematology
  • MLS4006 - Applied Clinical Biochemistry
  • MMB3001 - Theoretical Backgrounds to Biomedical Research
  • PHB5030 - Molecular Biology and Genetics
  • PHL5202 - Applied Epidemiology
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