Anthi Drousiotou


Current Position

Founder, Biochemical Genetics Department

Emeritus Professor

The Cyprus Institute of Neurology & Genetics

E-mail: [email protected]



Doctor of Philosophy (PhD), 1983
Guy’s Hospital Medical School, University of London, UK
Bachelor of Science Honours (BSc Hons) and Associate of the Royal College of Science (ARCSc), 1979
Imperial College of Science and Technology, University of London, UK


Research Interests

• Epidemiology of inherited metabolic disorders in Cyprus
• Biochemical and molecular characterization of inherited metabolic disorders in Cyprus
• Disease mechanisms in inherited metabolic disorders with emphasis on lysosomal storage disorders and carbohydrate disorders



Dr Anthi Drousiotou was born in Nicosia, Cyprus. After graduating from the English School, she went to the UK for her university studies. She obtained a BSc degree in Biochemistry from Imperial College, University of London and then went on to do a PhD degree at Guy’s Hospital Medical School, University of London, on a studentship from the Muscular Dystrophy Group of Great Britain. Upon her return to Cyprus in 1984, she worked for five years in the Biochemistry and Haematology departments of Limassol General Hospital. From 1989 to 2003 she worked at the Thalassaemia Centre in Nicosia where she was responsible for the biosynthetic studies for β- and α-thalassaemia, including prenatal diagnosis, and for the monitoring of the iron chelation therapy of thalassaemia patients. During the same period she became actively involved with the Cyprus Institute of Neurology & Genetics. After a number of training fellowships in well-established laboratories of Biochemical Genetics abroad, she set up the Department of Biochemical Genetics at the CING to act as a reference centre in Cyprus for the laboratory investigation of inherited metabolic disorders. Her research work focused mainly on the epidemiology and molecular characterization of inborn errors of metabolism in Cyprus, including Sandhoff’s disease, GM1 gangliosidosis, MSUD, ethylmalonic encephalopathy, phenylketonuria, galactosaemia and others. She has supervised several PhD and MSc students.

Dr Drousiotou has served as a member of the Board of Directors of several professional societies including the Cyprus Society of Human Genetics and the Cyprus Society of Sciences. She is currently a member of the Board of Trustees of ERNDIM (European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism) and National Representative for Cyprus in the EuroGentest Project (Biochemical Genetics). She is a member of the National Steering Committee for Rare Disorders and the National Steering Committee for Neonatal Screening. She is also the Secretary of the National Register Committee for Specialists in Clinical Chemistry and Laboratory Medicine (NRC-CCLM). She has been involved in the organization of many conferences, seminars and workshops.


Selected Publications:

  1. Papachristoforou R, Petrou PP, Sawyer H, Williams M, Drousiotou A. Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study. Ann Hum Genet. 2019;1–8
  2. “Mouse Stbd1 is N-myristoylated and affects ER-mitochondria association and mitochondrial morphology”. A Demetriadou, J Morales-Sanfrutos, M Nearchou, O Baba, K Kyriacou, EW Tate, A Drousiotou and PP Petrou. J Cell Sci. 2017 Mar 1;130(5):903-915. doi: 10.1242/jcs.195263.
  3. “Chitotriosidase deficiency in the Cypriot population: identification of a novel deletion in the CHIT1 gene”.  G Mavrikiou, P Petrou, Th Georgiou and A Drousiotou (2016) Clin Biochem 49: 885-889 doi:10.1016/j.clinbiochem.2016.03.013
  4. “Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata” Th Georgiou, G Mavrikiou, A Alexandrou, E Spanou-Aristidou, I Savva, Th Christodoulides, M Krasia, V Christophidou-Anastasiadou, C Sismani, A Drousiotou and G A Tanteles (2016) Case Reports in Genetics  doi: 10.1155/2016/5208312.  
  5. “Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review”. MA Gatheridge, JM Kwon, JM Mendell, G Scheuerbrandt, SJ Moat, F Eyskens, C Rockman-Greenberg, A Drousiotou, RC Griggs (2015) JAMA Neurol. 2015 Nov 23:1-7. doi: 10.1001/jamaneurol.2015.3537.
  6. 5. “Minimally symptomatic McArdle disease, expanding the genotype-phenotype spectrum”. P.Petrou, M. Pantzaris, M. Dionysiou, A. Drousiotou and Th. Kyriakides (2015) Muscle & Nerve 52(5):891-5. doi: 10.1002/mus.2, PMID 25240406.
  7. “Molecular analysis of Cypriot patients with Glutaric aciduria type I: Identification of two novel mutations”. Th. Georgiou, P. Nicolaidou, A. Hadjichristou, R. Ioannou, M. Dionysiou, E. Siama, G. Chappa, V. Anastasiadou, A. Drousiotou (2014) Clin Biochem 47: 1300-1305.
  8. “The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78GNA) and a silent (c.1305CNT) mutation and allows preimplantation genetic diagnosis. Th. Georgiou, G. Christopoulos, V. Anastasiadou, S. Hadjiloizou, D. Cregeen, M. Jackson, G. Mavrikiou, M. Kleanthous, A. Drousiotou (2014) Meta Gene 2 (2014) 200–205.
  9. “A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities”. R. Papachristoforou, P. P. Petrou, H. Sawyer, M. Williams, A. Drousiotou (2014) JIMD Rep. 2014;12:91-8. doi: 10.1007/8904_2013_249. Epub 2013 Sep 4.
  10. “The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening”. Th. Georgiou, G. Ho, M. Vogazianos, M. Dionysiou, A. Nicolaou, G. Chappa, P. Nicolaides, G. Stylianidou, J. Christodoulou, A. Drousiotou (2012) Clinical Biochemistry 45: 588-592.
  11. “Ethylmalonic Encephalopathy: Application of novel biochemical and molecular approaches”. A. Drousiotou, R. Mineri, Th. Georgiou, G. Stylianidou, V. Tiranti (2011) Clinical Genetics 79: 385-390.
  12. “MSUD in Cypriot families: Identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1α subunit”. Th. Georgiou, J. L. Chuang, R. M. Wynn, G. Stylianidou, M. Korson, D. T. Chuang, A. Drousiotou (2009) Genetic Testing & Molecular Biomarkers 13(5): 657-664).
  13. “Naturally occurring utrophin correlates with disease severity in Duchenne Muscular Dystrophy”. K. Kleopas*, A. Drousiotou*, E. Mavrikiou, A. Ormiston and Th. Kyriakides (2006).  Human Molecular Genetics 15(10):1623-1628. * Equal contribution.
  14. "The Arg482His mutation in the β-galactosidase gene is responsible for a high frequency of GM1 Gangliosidosis carriers in a Cypriot village". T. Georgiou, G. Stylianidou, V. Anastasiadou, A. Caciotti, Y. Campos, E. Zammarchi, A. Morrone, A. D’Azzo and A. Drousiotou (2005). Genetic Testing 9(2):126-132.
  15. "Four novel mutations in patients from the Middle East with the Infantile from of GM1 Gangliosidosis". T. Georgiou, A. Drousiotou, Y. Campos, A. Caciotti, L. Sztriha, A. Gururaj, P. Ozand, E. Zammarchi, A. Morrone and A. D’Azzo (2004). Human Mutation 24(4): 352.
  16. "Molecular characterization of G6PD Deficiency in Cyprus". A. Drousiotou, E.H. Touma, N. Andreou, J. Loiselet, M. Angastiniotis, B.C. Verelli and S.A. Tishkoff (2004). Blood Cells, Molecules and Diseases 33(1): 25-30.
  17. "Evidence for Balancing Selection from Nucleotide Sequence Analysis of Human G6PD". B.C. Verelli, J.H. McDonald, G. Argyropoulos, G. Destro-Bisol, A. Froment, A. Drousiotou, G. Lefranc, A.N. Helal, J. Loiselet and S.A. Tishkoff (2002). Am J Hum Genet 71:5, 1112-1128.
  18. "Haplotype diversity and linkage disequilibrium at human G6PD: Recent origin of alleles that confer malarial resistance". S.A. Tishkoff, R. Varkonyi, N. Cahinhinan, S. Abbes, G. Argyropoulos, G. Destro-Bisol, A. Drousiotou, B. Dangerfield, G. Lefranc, J. Loiselet, A. Piro, M. Stoneking, A. Tagarelli, G. Tagarelli, E.H. Touma, S.M. Williams and A.G. Clark (2001). Science 293, 455-462.
  19. "Sandhoff disease in Cyprus: Population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community". A. Drousiotou, G. Stylianidou, V. Anastasiadou, G. Christopoulos, E. Mavrikiou, Th. Georgiou, G. Kalakoutis, A. Oladimeji, Y. Hara, K. Suzuki, K. Furihata, I. Ueno, P. Ioannou and A. Fensom (2000).  Human Genetics 107, 12-17.
  20. "Novel Splice Site Mutation at IVS8 nt5 of HEXB Responsible for a Greek-Cypriot Case of Sandhoff Disease".  K. Furihata, A. Drousiotou, Y. Hara, G.Christopoulos, G. Stylianidou, V. Anastasiadou, I. Ueno and P. Ioannou (1999).  Human Mutation 13, 38-43.
  21. "Neonatal Screening for Duchenne Muscular Dystrophy: A Novel Semi-quantitative Application of the Bioluminescence Test for Creatine Kinase in a Pilot National Program in Cyprus".  A. Drousiotou, P. Ioannou, Th. Georgiou, E. Mavrikiou, G. Christopoulos, Th. Kyriakides, M. Voyasianos, A. Argyriou and L. Middleton (1998).  Genetic Testing 2, No.1, 55-60.


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