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|ΘΕΕ 02 - Σχολή Θετικών και Εφαρμοσμένων Επιστημών|
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Please click here to download the FULL CV of Professor Constantinos Deltas.
1982: BSc Pharmacy, National and Kapodistrian University of Athens, Greece.
1988: PhD Biochemistry, Graduate School of Rutgers University & UMDNJ–Rutgers Medical School joint program in Biochemistry,New Jersey, USA
1987–88: Research Associate, Dept of Biochemistry & Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Phila, PA, USA.
1988–90: Instructor in Medicine, Member of Faculty, Department of Medicine, Division of Rheumatology Research, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Phila, PA, USA.
1990–91: Research Associate, Division of Neurology, Dept of Medicine, Duke University Medical Center, Duke University, Durham, NC, USA.
1991–2004: Senior Scientist, Head of Dept of Molecular Genetics C’, Laboratory of Molecular Nephrology, Diagnostics and Research, The Cyprus Inst. of Neurology & Genetics, Nicosia, Cyprus.
2002-Present: Professor of Genetics
Department of Biological Sciences, Faculty of Pure and Applied Sciences, University of Cyprus
Head, Laboratory of Molecular and Medical Genetics
Director, Molecular Medicine Research Center (http://ucy.ac.cy/mmrc)
Please click here to download the FULL CV of Professor Constantinos Deltas
At the Molecular Medicine Research Center (http://ucy.ac.cy/mmrc) we have a broad spectrum of interests in the fields of molecular and medical genetics with emphasis in the inherited diseases of the kidney, pursuing among others, to benefit the Cypriot patient. With the use of contemporary methodologies of molecular biology and genetics, we aim at investigating and deciphering the mysteries of inherited disorders with emphasis in subjects such as:
1) Molecular epidemiological study of the Cypriot population aiming at constructing and maintaining the Genetic Map of Cyprus. My team has contributed significantly to the identification and investigation of many inherited diseases among Greek-Cypriots, some of which present higher prevalence in specific geographical regions or communities (Founder Phenomena: Deltas C, In Annals of the Cyprus Research Center (Epetirida): Vol. 30: pp 457-489, 2004).
2) Research in the genetics of inherited kidney disorders with a focus on Cystic Diseases of the Kidney and investigation of the molecular pathogenetic mechanisms using cell biology and tissue culture techniques. Diseases that interest us are: Autosomal Dominant Polycystic Kidney Disease and Medullary Cystic Kidney Disease. Relevant publications are:
-Bouba et al, Eur J Hum Genet 9:677-684, 2001
-Koptides & Deltas, Hum Genet 107:115-126, 2000
-Felekkis et al, BMC Nephrology 9 (1):10, 2008
-Deltas and Papagregoriou, Arch Pathol & Lab Med 134:569-582, 2010
3) Research in the genetics of Familial Microscopic Hematuria and Alport Syndrome. Microscopic Hematuria is a frequent finding in the general population while in many cases it has a hereditary cause as a monogenic heritable condition. In collaboration with many colleagues in Cyprus and abroad, we have studied and described tens of families and hundreds of patients with Thin Basement Membrane Nephropathy (TBMN) and Alport Syndrome, and mutations in collagen IV genes of the glomerular basement membrane. The interesting observation is that in our population, Thin Basement Membrane Nephropathy and familial microscopic hematuria due to mutations in type IV collagen did not behave as a benign condition with excellent prognosis. A significant percentage of patients, about 50% after age 50, progressed to chronic or end-stage kidney disease. This finding alerted the renal community to the importance of more careful and longer follow-up of patients.
4) More recently we published on a newly described nephropathy caused by deregulation of the Complement which is part of the innate immune system (C3 Glomerulonephritis). Recent findings in collaboration with scientists abroad and headed by a London based group who made the original observation, we identified for the first time a mutation in the CFHR5 gene that regulates the Alternative Pathway of Complement. This disease, CFHR5 Nephropathy, is endemic in Cyprus and mainly in villages on the Troodos mountains in Marathasa as well as elsewhere near Nicosia. Interestingly, after the initial identification of a causative mutation (CFHR5 exon 2-3 duplication) we were able to identify more than 20 families to date, with more than 130 patients. More than 40% of the patients after age 50 progressed to chronic or end-stage kidney disease, predominantly males. Relevant publications are:
-Voskarides et al, J Am Soc Nephrol 18:3004-3016, 2007
-Pierides et al, Nephrol Dial Transplant 24:2721-2729, 2009
-Gale et al, Lancet 376(9743):794-801, 2010
-Athanasiou et al, Clinical J Am Soc Nephrol 6(6):1436-46, 2011
We have projects in progress aimed at identifying putative modifier genes that predispose a subset of above patients to a more severe course of disease, compared to others who maintain a normal kidney function until late age. In doing this we take advantage of the patient cohorts that we classify as mildly or severely affected based on their clinical presentation. Among others we are interested in finding a putative role of miRNAs in normal function as well as in disease. Finally, we developed cell culture systems for investigating the role of collagen IV mutations on the synthesis and secretion of type IV collagen as well as their suspected role in the ER stress response through the activation of the Unfolded Protein Response signalling cascade. Our Center maintains collaborations with researchers and laboratories in Cyprus, Greece, Europe and the United States that have led to the mapping and cloning of new genes and in the investigation of pathological mechanisms at molecular and cellular level (Two-hit hypothesis in Polycystic Kidney Disease). Our research led to the clarification of genetic phenomena concerning the Greek-Cypriot population and to the implementation of disease preventive programs and programs for family planning for various inherited diseases such as Cystic Fibrosis, Familial Mediterranean Fever, Thrombophilia, Hereditary Cancer of the Thyroid (MEN2A syndrome), Polycystic Kidney Disease and other nephropathies.Through a competitive research proposals call coordinated by the Cyprus Research Promotion Foundation, I headed a team of collaborators in Cyprus and abroad and were awarded a large Infrastructure Strategic Grant which is co-funded through the Structural Funds of the European Union. Among others, the program has as a central goal the creation of the first disease specific National Biobank where there will be collected and archived biological material and medical records of thousands of Greek-Cypriots, patients and healthy subjects. The present and future aims are to foster and develop additional research programs on monogenic diseases as well as multifactorial conditions with a genetic component.
Deltas C, Pierides A, Voskarides K (2013) Molecular genetics of familial hematuric diseases. Nephrol Dial Transplant. doi: 10.1093/ndt/gft253 (Invited Review).
Voskarides K, Demosthenous P, Papazachariou L, Arsali M, Athanasiou Y, Zavros M, Stylianou K, Xydakis D, Daphnis E, Gale DP, Maxwell
PH, Elia A, Pattaro C, Pierides A, Deltas C (2013) Epistatic role of the MYH9/APOL1 region on familial hematuria genes. PLoS One 8(3):e57925. doi: 10.1371/journal.pone.0057925. Epub 2013 Mar 14.
Papagregoriou G, Erguler K, Dweep H, Voskarides K, Koupepidou P, Athanasiou A, Pierides A, Gretz N, Felekkis KN, Deltas C (2012) A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy. PLoS One 7(2):e31021.
Voskarides K, Arsali M, Athanasiou Y, Elia A, Pierides A, Deltas C (2012) Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria. Pediatr Nephrol 27(4):675-679. Epub 2012 Jan 8. DOI: 10.1007/s00467-011-2084-6
Deltas C, Pierides A, Voskarides K (2011) The role of molecular genetics in diagnosing familial hematuria(s). Pediatr Nephrol. DOI: 10.1007/s00467-011-1935-5
Felekkis K, Voskarides K, Dweep H, Sticht C, Gretz N, Deltas C (2011)Increased number of microRNA target sites in genes encoded in CNV regions. Evidence for an evolutionary genomic interaction. Mol Biol Evol 28(9):2421-4. doi: 10.1093/molbev/msr078
Athanasiou Y, Voskarides K, Gale DP, Damianou L, Patsias C, Zavros M, Maxwell PH, Cook HT, Demosthenous P, Hadjisavvas A, Kyriacou K, Zouvani I, Pierides A, Deltas C (2011) Familial C3 glomerulopathy associated with CFHR5 mutations: Clinical characteristics of 91 patients in 16 pedigrees. Clin J Am Soc Nephrol 6(6):1436-46. doi: 10.2215/CJN.09541010
Liu M, Shi S, Senthilnathan S, Yu J, Wu E, Bergmann C, Zerres K, Bogdanova N, Coto E, Deltas C, Pierides A, Demetriou K, Devuyst O, Gitomer B, Laakso M, Lumiaho A, Lamnissou K, Magistroni R, Parfrey P, Breuning M, Peters DJ, Torra R, Winearls CG, Torres VE, Harris PC, Paterson AD, Pei Y (2010) Genetic variation of DKK3 may modify renal disease severity in ADPKD. J Am Soc Nephrol 21(9):1510-1520. Epub 2010 Jul 8
Gale DP, Goicoechea de Jorge E, Cook T, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Fremeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC (2010) Complement Factor H-Related protein 5 (CFHR5) Nephropathy: an endemic cause of renal disease in Cyprus. The Lancet 376(9743):794-801. Epub 2010 Aug 25.
*A special invited Comment by S Ananth Karumanchi and Ravi Thadhani was published in the same issue commenting on the results.
Koupepidou P, Felekkis KN, Kranzlin B, Sticht C, Gretz N, Deltas C (2010) Cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways. BMC Nephrology 11:23. doi:10.1186/1471-2369-11-23.
Voskarides K, Deltas C (2009) Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches. J Mol Diagn 11:311-318.
Pierides A, Voskarides K, Athanasiou Y, Ioannou K, Damianou L, Arsali M, Zavros M, Pierides M, Vargemezis V, Patsias C, Zouvani I, Elia A, Kyriacou K, Deltas C (2009) Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/COL4A4 genes associated with familial hematuria and significant, late progression to proteinuria, and chronic kidney disease from focal segmental glomerulosclerosis. Nephrol Dial Transplant 24(9):2721-2729.
Deltas C (2009) Thin Basement Membrane Nephropathy: is there genetic predisposition to more severe disease? Pediatr Nephrol 242:877-879
Felekkis ΚΝ, Koupepidou P, Kastanou E, Witzgall R, Bai C-X, Li L, Tsiokas L, Gretz N, Deltas C (2008) Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2. BMC Nephrology 9(1):10. doi: 10.1186/1471-2369-9-10
Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C (2007) COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. J Am Soc Nephrol 18(11):3004-3016.
*It was featured in the Highlights of this issue while a special invited Editorial by CE Kashtan was published in the same issue commenting on the results. Also, this paper was included in the list of papers recommended for reading, by the Nephrology Dialysis Transplantation Journal, issue of November 2007.