Distinguished Professors

Philippos Patsalis, Professor

Current Position

Board of Directors Distinguished Professor
Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology & Genetics 

Research Interests

  • Development of Non-Invasive Prenatal Diagnosis for Down Syndrome and other genetic disorders.
  • Methylome Analysis of the Embryo and the Mother
  • Development of New Methodologies in Prenatal Diagnosis Genomic
  • Genomic Investigation of Genetic Disorders and Characterization of the Underlying Structural Rearrangements and Genetic Mechanisms
  • Genetic Investigation and Characterization of Syndromes with Intellectual Disability and Learning Difficulties
  • Investigation and Characterization of the Clinical Significance of Copy Number Variations in the Human Genome







Prof Philippos C. Patsalis was born in Athienou, Cyprus in 1962. Prof. Patsalis received his BSc degree from the Aristotelian University of Salonica, Greece and his MA, MPh and PhD degrees from the City University of New York, USA. He underwent specialization training in Human Genetics at Memorial Sloan-Kettering Center and the Cornell Medical Center, USA. His post-doctoral training was done at the Institute Pasteur, France and the New York University, Memorial-Sloan Kettering Cancer Center and Columbia University, in New York, USA. He also received professional certification and licensing to practice as a Laboratory Director in the specialties of Cytogenetics and Molecular Genetics from the New York Department of Health, USA; American Board Certification as High Complexity Laboratory Director from the American Board of Bioanalysis, USA; and Accreditation as Laboratory Director in Cytogenetics and Molecular Genetics from the College of American Pathologists, USA.

For the years 2007 until October 2015 Prof. Patsalis served as the Chief Executive Medical Director of The Cyprus Institute of Neurology and Genetics and for the years 2011-2015 Professor and Provost of the Cyprus School of Molecular Medicine. For the period of March 2014 to July 2015 he served as Minister of Health of the Republic of Cyprus.  He is also an Honorary Professor of the St. George’s University of London/Medical School at the University of Nicosia, Adjunct Professor at the University of Cyprus/Department of Biology and Visiting Professor at the University of Ioannina/Medical School. Prof. Patsalis is the Founder of the Cyprus School of Molecular Medicine, the bio-technology spin-off company NIPD Genetics, and the Department of Cytogenetics and Genomics as well as the Translational Genetic Team at the Cyprus Institute of Neurology and Genetics.  Currently, Prof. Patsalis is the Chief Executive Director of the NIPD Genetics Ltd.

Prof. Patsalis has several national and international affiliations such as President of the National Committee of Research, Innovation and Technological Development, President of the Cyprus Council of Directors of Research Institutes, President of the Cyprus Society of Human Genetics, Board Member of the European Cytogenetic Association, Board Member of the European Society of Human Genetics, etc. He is the Cyprus National Representative in several European organizations, such as the European Cytogeneticists Association, the European Union COST Action, EuroGenTest European Forum, etc. He is a scientist with an international reputation in the field of Genetics. He was invited to provide lectures in more than 100 universities and conferences around the world. During the last years he has obtained many competitive research grants, including grants from the 5th, 6th, 7th European Framework Programmes and the most prestigious grant in the European Union known as the ERC Advanced Grant, which is given to very few senior scientists in Europe and is based purely on excellence. He has been appointed to the Editorial Board of international scientific journals in the field of Cytogenetics and Genomics, such as BMC Medical Genomics, Molecular Cytogenetics, Applied and Translational Genomics, etc. He has contributed chapters in seven books and has published more than 100 peer review papers in scientific journals including Nature Medicine, Lancet, Human Molecular Genetics, American Journal Human Genetics, etc. Prof. Patsalis is the principal investigator and group leader of the research team which invented and patented the Non-Invasive Prenatal Diagnosis for Down Syndrome, recently published in Nature Medicine. He has received several national and international awards in recent years, including the National Research Award 2008, the National Innovation Award 2009, the Most Notable Scientific and Social Contribution Award University of Nicosia 2011, the US State Alumni Award-State Department US 2011, Man of the Year 2011 and the Silver Medal of the Parliament, which is the highest honorary distinction of the Parliament of the Republic of Cyprus 2011.  Prof. Patsalis is a Board of Directors Distinguished Professor of the Cyprus School of Molecular Medicine, the Cyprus Institute of Neurology & Genetics.  

Selected Publications

 Tsaliki E, Papageorgiou EA, Spyrou C, Koumbaris G, Kypri E, Kyriakou S, Sotiriou C, Touvana E, Keravnou A, Karagrigoriou A, Lamnissou K, Velissariou V, Patsalis PC. MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21. Prenatal diagnosis 2012;32:996-1001.
 Patsalis PC, Tsaliki E, Koumbaris G, Karagrigoriou A, Velissariou V, Papageorgiou EA. A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR. Expert opinion on biological therapy 2012;12 Suppl 1:S155-161.
 Patsalis PC. Technical concerns about immunoprecipitation of methylated fetal DNA for noninvasive trisomy 21 diagnosis. Nature Medicine 2012;18:1328-1329.
 Papageorgiou EA, Patsalis PC. Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications. Genome Medicine 2012;4:46.
 Papageorgiou EA, Karagrigoriou A, Tsaliki E, Velissariou V, Carter NP, Patsalis PC. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nature Medicine 2011;17:510-513.
 Koumbaris G, Hatzisevastou-Loukidou H, Alexandrou A, Ioannides M, Christodoulou C, Fitzgerald T, Rajan D, Clayton S, Kitsiou-Tzeli S, Vermeesch JR, Skordis N, Antoniou P, Kurg A, Georgiou I, Carter NP, Patsalis PC. FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation. Human Molecular Genetics 2011;20:1925-1936.
 Kousoulidou L, Mannik K, Sismani C, Zilina O, Parkel S, Puusepp H, Tonisson N, Palta P, Remm M, Kurg A, Patsalis PC. Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes. Nature Protocols 2008;3:849-865.
 Patsalis PC, Sismani C, Quintana-Murci L, Taleb-Bekkouche F, Krausz C, McElreavey K. Effects of transmission of Y chromosome AZFc deletions. Lancet 2002;360:1222-1224.



The Cyprus Institute of Neurology & Genetics and the Cyprus School of Molecular Medicine will be hosting their annual DNA Day-Open Day event on Tuesday 19 April 2016.

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