Philippos Patsalis, Professor

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 Testing (NIPT) for genetic disorders
  • NIPT in IVF pregnancies
  • Methylation based analysis of the fetus
  • Biomarker discovery for non-invasive testing of genetic conditions
  • Genomic and transcriptomic analysis of cell-free DNA
  • Development of novel Non-Invasive Diagnosis methodologies in cancer





Prof Philippos C. Patsalis was born in Athienou, Cyprus in 1962. Prof. Patsalis received his BSc degree from the Aristotelian University of Salonica, Prof Philippos C. Patsalis was born in Athienou, Cyprus in 1962. He 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 and post-doctoral training at the Institute Pasteur, France, the Cornell Medical Center, the New York University, the 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.

Prof Patsalis worked as Director and Founder of the Department of Cytogenetics and Genomics and the Translational Genetics Team at the Cyprus Institute of Neurology and Genetics; Founder and Chief Executive Director of the biotechnology company NIPD Genetics; Founder, Professor and Provost of the Cyprus School of Molecular Medicine; Chief Executive Medical Director of the Cyprus Institute of Neurology and Genetics and Minister of Health of the Republic of Cyprus. As of November 2015 he holds the position of Board of Directors Distinguished Professor at the Cyprus Institute of Neurology and Genetics and the Cyprus School of Molecular Medicine and the position of Chief Executive Director of NIPD Genetics. He is also an Honorary Professor of 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 a scientist with international recognition in the field of Human Genetics. He has been invited as lecturer to more than 200 Universities and international conferences. Ηe has competitively obtained more than 40 research grants and funding of over 20 million euro from international organizations such as the 5th, 6th, 7th European Framework Programs and the most prestigious grant in the European Union known as the ERC Advanced Grant, which is based purely on excellence. He was appointed to several Editorial Boards of scientific journals and has filed several patents. He contributed chapters in 9 books and published more than 130 peer-reviewed scientific publications in international journals, such as Nature Medicine, Lancet, Human Molecular Genetics, American Journal Human Genetics, etc. In Cyprus, he is the President of the National Council of Research, Innovation and Entrepreneurship and has served on several other Boards, Committees and Councils. In Europe, he is the national representative of Cyprus in many European committees and councils, as well as elected Boards of Directors such as the European Society of Human Genetics, the European Cytogenetics Association, etc. He has been appointed as external member of National Academies of Sciences and has been honored with many national and international awards, including the Cyprus National Research Award, the Cyprus National Innovation Award, the Most Notable Scientific and Social Contribution Award University of Nicosia, the US State Alumni Award-State Department USΑ, the Silver Medal of the Parliament which is the highest honorary distinction of the Parliament of the Republic of Cyprus and the National Award from the President of the Republic of Cyprus.  


Selected Publications

Koumbaris G, Kypri E, Tsangaras K, Achilleos A, Mina P, Neofytou M, et al., and Patsalis PC. Cell-free DNA analysis of targeted genomic regions in maternal plasma for non-invasive prenatal testing of trisomy 21, trisomy 18, trisomy 13 and fetal gender. Clinical Chemistry 2016, 62:6

Patsalis PC. Technical concerns about immunoprecipitation of methylated fetal DNA for noninvasive trisomy 21 diagnosis. Nature Medicine 2012 Sep 7;18(9):1328-9. doi: 10.1038/nm.2914.

Papageorgiou EA, Patsalis PC. Non Invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications. Genome Medicine. 2012 May 28;4(5):46. (Epub ahead of print).

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 May 15;20(10):1925-36. Epub 2011 Feb 24.

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 Apr;17(4):510-3. Epub 2011 Mar 6.

Kousoulidou L, Männik K, Sismani C, Zilina O, Parkel S, Puusepp H, Tõnisson N, Palta P, Remm M, Kurg A and Patsalis PC. Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes. Nature Protocol. ;3(5):849-65, 2008.

Patsalis PC, Sismani C, Quintana-Murci L, Taleb-Bekkouche F, Krausz C, McElreavey K. Effects of transmission of Y chromosome AZFc deletions. Lancet, Oct. 19;360(9341):1222-1224, 2002.




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