Genetics & Regenerative Medicine Team

Overview

The mission of Genetics & Regenerative Medicine (GRM) team is to promote and advance knowledge in the genetics of human disease and regenerative medicine using molecular and genomic methods. The team is committed to understanding the function of the human genome under physiological and disease states, with the aim of elucidating its complex interactions with tissues, organs, and systems.

Researchers within GRM have diverse interests, including development, neurobiology, stem cell biology and organ regeneration, molecular biology of cancer, evolutionary medicine, pharmacogenetics, bioethics, and clinical genetics. To support these interests, GRM researchers employ various methods, such as using animal models like zebrafish, cultivating cells and organoids, and analysing patient samples to address critical research questions.

Our Objectives

  • Promote and advance knowledge in the genetics of human disease and regenerative medicine.
  • Understanding the function of the human genome under physiological and disease states.
  • Elucidating complex interactions between genomic elements and tissues, organs, and systems.

Primary Research Areas

  • Developmental Biology
  • Regerative Medicine
  • Neurobiology
  • Stem Cells
  • Human Genetics
  • Clinical Genetics
  • Evolutionary Medicine
  • Pharmacogenetics
  • Cancer Biology
  • Bioethics
  • Dysmorphology
  • Epilepsy

Coordinator

Members

Selected Publications

  1. Yi-Cheng Chang, Jan Manent, Jan Schroeder, Siew Fen Lisa Wong, Gabriel M Hauswirth, Natalia A Shylo, Emma L Moore, Annita Achilleos, Victoria Garside, Jose M Polo, Paul Trainor, Edwina McGlinn. Nr6a1 controls Hox expression dynamics and is a master regulator of vertebrate trunk development. Nat Commun. 13 – Article No.: 7766.
  2. Falcon, TF., Watt, KEN., Dash, S., Zhao, R., Sakai, D., Moore, EL., Fitriasari, S., Childers, M., Sardiu, ME., Swanson, S., Tsuchiya, D., Unruh, J., Bugarinovic, G., Li, L., Shiang, R., Achilleos, A., Dicon, J., Dixon, MJ., Trainor, PA. Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development. 2022. 119 (31). e2116 97411 9.
  3. Achilleos, A.*1, Chern, T.*, Tong, X, Hill, MC., Saltzman, AB., Reineke, LC., Chaudhury, A., Dasgupta, SK., Redhead, Y., Watkins, D., Neilson, JR., Thiagarajan, P., Green, BA., Malovannaya, A., Martin, JF., Rosenblatt, DS., and Poché1, RA. Mutations in Hcfc1 and Ronin (Thap11) result in both an inborn error of cobalamin metabolism and a ribosomopathy impacting embryonic development. Nat Commun. Jan 10;13(1):134. doi: 10.1038/s41467-021-27759-7.
  4. Chern*, T., Achilleos*, A, Tong, X., Chih-Wei, H., Wong, L., Poché, RA. Mouse models to study the pathophysiology of combined methylmalonic acidemia and homocystinuria, cblC type. Dev Biol. Sep 14;468(1-2):1-13. doi: 10.1016/j.ydbio.2020.09.005
  5. Voskarides K. The Role of Selection and Migration in the Evolution of (Auto)Immunity Genes. J Mol Evol. 2024 Aug;92(4):359-362. doi: 10.1007/s00239-024-10182-z.
  6. Parperis K, Kyriakou A, Voskarides K, Koliou E, Evangelou M, Chatzittofis A. Insights into suicidal behavior among psoriatic arthritis patients: A systematic review and a genetic linkage disequilibrium analysis. Semin Arthritis Rheum. 2023 Oct;62:152241. doi: 10.1016/j.semarthrit.2023.152241.
  7. Voskarides K, Giannopoulou N, Eid R, Parperis K, Chatzittofis A. Genome-wide association studies reveal shared genetic haplotypes of autoimmune rheumatic and endocrine diseases with psychiatric disorders. Brain Behav. 2023 Apr;13(4):e2955. doi: 10.1002/brb3.2955.
  8. Voskarides K, Giannopoulou N. The Role of TP53 in Adaptation and Evolution Cells. 2023 Feb 3;12(3):512. doi: 10.3390/cells12030512.
  9. International League Against Epilepsy Consortium on Complex Epilepsies. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nat Genet. 2023 Sep;55(9):1471-1482. doi: 10.1038/s41588-023-01485-w.
  10. Georgiou T, Petrou PP, Malekkou A, Ioannou I, Gavatha M, Skordis N, Nicolaidou P, Savvidou I, Athanasiou E, Ourani S, Papamichael E, Vogazianos M, Dionysiou M, Mavrikiou G, Grafakou O, Tanteles GA, Anastasiadou V, Drousiotou A. Inherited metabolic disorders in Cyprus. Mol Genet Metab Rep. 2024 Apr 23;39:101083. doi: 10.1016/j.ymgmr.2024.101083. eCollection 2024 Jun.
  11. Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6.
  12. Liampas A, Nicolaou P, Votsi C, Georghiou A, Christodoulou K, Tanteles GA, Pantzaris M.Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and c erebellar ataxia. Mol Biol Rep. 2024 Apr 29;51(1):590. doi: 10.1007/s11033-024-09515-4.
  13. Batzios S, Tal G, DiStasio AT, Peng Y, Charalambous C, Nicolaides P, Kamsteeg EJ, Korman SH, Mandel H, Steinbach PJ, Yi L, Fair SR, Hester ME, Drousiotou A, Kaler SG (2022). “Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter”. Human Molecular Genetics. 2022; Vol. 00, No. 00, pp. 1–10
  14. Vasincu A, Luca SV, Charalambous C, Neophytou CM, Skalicka-Woźniak K, Miron A (2022). “LC-HRMS/MS phytochemical profiling of Vernonia kotschyana Sch. Bip. ex Walp.: Potential involvement of highly-oxygenated stigmastane-type saponins in cancer cell viability, apoptosis and intracellular ROS production”. South African Journal of Botany, Vol. 144, pp. 83-91.
  15. Constantinou C, Charalambous C, Kanakis D, Kolokotroni O, Constantinou AI (2021). “Update on the Anti-Cancer Potency of Tocotrienols and α- Tocopheryl Polyethylene Glycol 1000 Succinate on Leukemic Cell Lines”. Nutr Cancer, Vol. 73 No.8, pp. 1302-1308.
  16. Constantinou C, Charalambous C, Kanakis D (2020). “Vitamin E and cancer: an update on the emerging role of γ and δ tocotrienols”. Eur J Nutr. Vol. 59, pp. 845–857
  17. Monaco S, Bussola N, Buttò S, Sona D, Giobergia F, Jurman G, Xinaris C, Apiletti D. AI models for automated segmentation of engineered polycystic kidney tubules.Sci Rep. 2024 Feb 3;14(1):2847. doi: 10.1038/s41598-024-52677-1.
  18. Lavecchia AM, Mantzouratou P, Cerullo D, Locatelli M, Conti S, Tironi M, Sangalli F, Corna D, Zoja C, Remuzzi G, Xinaris C. Thyroid hormone treatment counteracts cellular phenotypical remodeling in diabetic organs. iScience. 2023 Sep 7;26(10):107826. doi: 10.1016/j.isci.2023.107826.
  19. Mantzouratou P, Malaxianaki E, Cerullo D, Lavecchia AM, Pantos C, Xinaris C, Mourouzis I. Thyroid Hormone and Heart Failure: Charting Known Pathways for Cardiac Repair/Regeneration. Biomedicines. 2023 Mar 21;11(3):975. doi: 10.3390/biomedicines11030975.
  20. Romero-Guevara R, Nicolaou O, Petracca B, Shaheed S, Sutton C, Frangou E, Afami M, Kyriacou K, Ioannides A, Xinaris C. Patient-derived podocyte spheroids reveal new insights into the etiopathogenesis of Alport syndrome. Front Cell Dev Biol. 2023 Mar 2;11:1111424. doi: 10.3389/fcell.2023.1111424.
  21. Prokopiou E, Kolovos P, et al. (2024) Eicosapentaenoic acid-rich omega-3 fatty acids supplementation may improve vision in dry age-related macular degeneration or Stargardt disease, as shown in MADEOS, a prospective, randomized, multicentre, double-blind, placebo-controlled pilot study. PharmaNutrition
  22. Antoniou V, Thomaidou E, Prokopiou E (2024) Dupilumab efficacy and safety assessment in the treatment of atopic dermatitis in pediatric patients: A systematic review . Dermatological Reviews
  23. Georgiou M, Prokopiou E (2023) Diabetic retinopathy and the role of Omega-3 PUFAs: A narrative review. Exp Eye Res 231, 109494.
  24. Fathima S, Prokopiou E, Georgiou T (2023) Omega-3 Polyunsaturated Fatty Acids and Their Anti-Oxidant, Anti-Inflammatory and Neuroprotective Effects in Diabetic Retinopathy: A Narrative Review. Front. Biosci. (Landmark Ed), 28(7), 153.
  25. Romero-Guevara R, Nicolaou O, Petracca B, Shaheed S, Sutton C, Frangou E, Afami M, Kyriacou K, Ioannides A, Xinaris C. Patient-derived podocyte spheroids reveal new insights into the etiopathogenesis of Alport syndrome. Front Cell Dev Biol. 2023 Mar 2;11:1111424. doi: 10.3389/fcell.2023.1111424. eCollection 2023.
  26. Romero-Guevara R, Ioannides A, Xinaris C. Kidney Organoids as Disease Models: Strengths, Weaknesses and Perspectives. Front Physiol. 2020 Nov 4;11:563981. doi: 10.3389/fphys.2020.563981. eCollection 2020.
  27. Martinelli S, Pannone L, Lissewski C, Brinkmann J, Flex E, Schanze D, Calligari P, Anselmi M, Pantaleoni F, Canale VC, Radio FC, Ioannides A, Rahner N, Schanze I, Josifova D, Bocchinfuso G, Ryten M, Stella L, Tartaglia M, Zenker M. Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2’s functional regulation. Hum Mutat. 2020 Jun;41(6):1171-1182. doi: 10.1002/humu.24007.
  28. Delatycki MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, Henneman L, Ioannides AS, Kirk E, Laing N, Lucassen A, Massie J, Schuurmans J, Thong MK, van Langen I, Zlotogora J. International perspectives on the implementation of reproductive carrier screening. Prenat Diagn. 2020 Feb;40(3):301-310. doi: 10.1002/pd.5611.

Selected Research Projects

  • The effects of omega-3 fatty acids in eye diseases
  • Development of zebrafish as a model to study the anatomical and neurodevelopmental effects of anti-epileptic medication exposure during embryogenesis
  • Prognostic significance of Estrogen receptor-β as a novel biomarker with a role in tamoxifen resistance in Cypriot breast cancer patients
  • Investigating the role of genetic variants in patients with Systemic LuPus ErythEmatosus and Depression
  • Engineering a nephron-on-chip from iPSCs
  • Regenerating the heart and kidney by using stress-specific thyroid hormone nanocarriers

Collaborations

  • Ophthalmos Research and Educational Institute, Cyprus
  • UNIC School of Veterinary Medicine, Cyprus
  • Bank of Cyprus Oncology Center (BOCOC), Cyprus
  • Shriners Children’s Hospital, Genomics Institute Lab, USA
  • University of Cyprus, Medical School, Cyprus
  • University of Bari, Italy
  • University of Bristol, UK