Dr Joseph Borg B.Sc., M.Sc., Ph.D.
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 fulltime 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.
Publications:
1. Borg, J., Scerri, C.A., Vidal, C., and Xuereb Anastasi, A. (2006) No association of
Coeliac disease with -318C/T and +49A/G CTLA-4 gene polymorphisms in the Maltese
population. Balkan Journal of Medical Genetics 9(1&2): 49-51.
2. Felice, A.E., Borg, J., Pizzuto, M., Cassar, W., Galdies, R., Bezzina Wettinger, S., Pulis,
S., Hunter, G.J., Caruana, M.R., Farrugia, M., and Scerri, C.A. (2007) A Review of CisTrans Interplay Between DNA Sequences 5’ to the Gγ and the β Globin Genes Among HbF-Malta-I Heterozygotes / Homozygotes and β Thalassemia Homozygotes / Compound
Heterozygotes, and the Effects of Hydroxyurea on the Hb F / F-Erythrocyte; The Need for
Large Multi-Center Trials. Hemoglobin 31(2): 1-10.
3. The Geoparkinson study group (2007) Environmental risk factors for Parkinson's
disease and Parkinsonism: the Geoparkinson study. Occupational and Environmental
Medicine 64(10):666-72.
4. The Geoparkinson study group (2007) Gene-environment interactions in parkinsonism
and parkinson's disease: the Geoparkinson study. Occupational and Environmental
Medicine 64(10):673-80.
5. 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):225-35.
6. Borg, J., Georgitsi, M., Aleporou-Marinou, V., Kollia, P., and Patrinos, G. Genetic
recombination as a major cause of mutagenesis in the human globin gene clusters (2009)
Clinical Biochemistry 42(18): 1839-1850.
7. 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 Foetal
Haemoglobin. Nature Genetics. 42, 801–805.
8. 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 comprehensive worldwide data collection. Human Mutation. 32(1): 29.
9. Giardine, B., Borg, J., Higgs, D.R., Peterson, K.R., Philipsen, S., Maglott, D., Singleton,
B.K., Anstee, D.J., Nazli Basak, A., Clark, B., Costa, F.C., Faustino, P., Fedosyuk, H.,
Felice, A.E., Francina, A., Gallivan, M.V.E., Georgitsi, M., Gibbons, R.J., Giordano, P.C.,
Harteveld, C.L., Hoyer, J.D., Joly, P., Kanavakis, E., Kollia, P., Menzel, S., Miller, W.,
Moradkhani, K., Old, J., Papachatzopoulou, A., Papadakis, M.N., Papadopoulos, P.,
Pavlovic, S., Radmilovic, M., Riemer, C., Schrijver, I., Stojiljkovic, M., Thein, S.L., TraegerSynodinos, J., Tully, R., Wada, T., Waye, J.S., Wiemann, C., Zukic, B., Chui, D.H.K.,
Wajcman, H., Hardison, R.C., and Patrinos, G.P. (2011) Systematic documentation and
analysis of genetic variation associated with hemoglobinopathies using the microattribution
approach. Nature Genetics 43, 295-301.
10. Borg, J., Patrinos, G.P., Felice, A.E., and Philipsen, S. (2011) Erythroid phenotypes
associated with KLF1 mutations. Haematologica 96(5): 635-638.
11. 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 (DOI: 10.2217/PGS.11.102
Epub ahead of print).