Science

The NIPD Genetics team has a very strong scientific publication track record in the field of in vitro genetic testing. Our scientists have published several original articles in prestigious peer-reviewed journals describing our innovative scientific work and cutting-edge technological advances.

NIPD Genetics has also presented its pioneering work at several international scientific conferences demonstrating its leadership in the field of genetic testing.

NIPD Genetics has obtained several competitive research grants for the development of novel products, showing its international competitiveness in the field of designing and development of genetic testing technologies and solutions.

George Koumbaris, Elena Kypri, Kyriakos Tsangaras, Achilleas Achilleos, Petros Mina, Maria Neofytou, et al., and Philippos C Patsalis 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 62:6, 848-855, 2016

Keravnou A, Ioannides M, Loizides C, Tsangaras K, Achilleos A, Mina P, Kypri E, Hadjidaniel MD, Neofytou M, Kyriacou S, Sismani C, Koumbaris G, Patsalis PC. MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT. PLoS One. 2018 Jun 11;13(6):e0199010. doi: 10.1371/journal.pone.0199010. eCollection 2018

Neofytou MC, Tsangaras K, Kypri E, Loizides C, Ioannides M, Achilleos A, Mina P, Keravnou A, Sismani C, Koumbaris G, Patsalis PC. Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications. PLoS One. 2017 Feb 3;12(2):e0171319. doi: 10.1371/journal.pone.0171319. eCollection 2017.

Keravnou A, Ioannides M, Tsangaras K, Loizides C, Hadjidaniel MD, Papageorgiou EA, Kyriakou S, Antoniou P, Mina P, Achilleos A, Neofytou M, Kypri E, Sismani C, Koumbaris G, Patsalis PC. Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions. Genet Res (Camb). 2016 Nov 11;98:e15.

Koumbaris G, Kypri E, Tsangaras K, Achilleos A, Mina P, Neofytou M, Velissariou V, Christopoulou G, Kallikas I, González-Liñán A, Benusiene E, Latos-Bielenska A, Marek P, Santana A, Nagy N, Széll M, Laudanski P, Papageorgiou EA, Ioannides M, 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 Sex. Clin Chem. 2016 Jun;62(6):848-55. doi: 10.1373/clinchem.2015.252502.

Ioannides M, Papageorgiou EA, Keravnou A, Tsaliki E, Spyrou C, Hadjidaniel M, Sismani C, Koumbaris G, Patsalis PC. Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS. Mol Cytogenet. 2014 Nov 1;7(1):73. doi: 10.1186/s13039-014-0073-8. eCollection 2014.

Papageorgiou EA, Koumbaris G, Kypri E, Hadjidaniel M, Patsalis PC. The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis. Genes (Basel). 2014 Apr 9;5(2):310-29. doi: 10.3390/genes5020310.

Antoniou P, Michalokopoulos S, Ioannides M, Papageorgio EA, Patsalis PC. Identifying Differentially Methylated Regions by efficient bit-masking of DNA microarrays to use as markers for Non Invasive Prenatal Diagnosis. Engineering Intelligent Systems. 2014 Mar; 22(1).

Kyriakou S, Kypri E, Spyrou C, Tsaliki E, Velissariou V, Papageorgiou EA, Patsalis PC. Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP qPCR methodology. Prenat Diagn. 2013 Apr 25. doi: 10.1002/pd.4140.

Papageorgiou EA, Tsaliki E, Koumbaris G, Patsalis PC. Author’s response regarding “MeDIP-qPCR approach for non-invasive prenatal diagnosis of Down syndrome: accuracy and reproducibility”. Prenat Diagn. 2013 Apr;33(4):404-5. doi: 10.1002/pd.4048.

Papageorgiou EA, Patsalis PC. Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery. BMC Med. 2013 Feb 27;11(1):56. doi:10.1186/1741-7015-11-56.

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

Patsalis PC, Papageorgiou EA. Non-Invasive Prenatal Diagnosis (NIPD) of Down Syndrome using real time qPCR. ECA Newsletter, July 2012.

Velissariou V, Patsalis PC. The Future of Prenatal Diagnosis of Genetic Diseases of the Embryo: Non-Invasive Prenatal Diagnosis in free DNA of the Pregnant Woman. Medical Analects, July-September 15:713-717, 2012.

Patsalis PC. A new method for non-invasive prenatal diagnosis of Down Syndrome using MeDIP real time qPCR. Applied & Translational Genomics 1 (2012) 3-8, 2012.

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. Prenat Diagn. 2012 Oct;32(10):996-1001 doi: 10.1002/pd.3947. [Epub 20, 12 Jul 26].

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).

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 Opin Biol Ther. 2012 Jun;12 Suppl 1:S155-61. Epub 2012 Apr 14.

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. Hum Mol Genet. 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. Nat Med. 2011 Apr;17(4):510-3. Epub 2011 Mar 6.

  • Title: “A single comprehensive NIPT for aneuploidies, microdeletions and point mutations”, 3rd Symposium on Clinical Genetics & Genomics & 19th Educational Seminar in Genetics, 31 May-1 June 2019, Athens-Greece.
  • Title: “New Advancements in NIPT for prenatal screening of genetic diseases”, The 10th International Symposium on Diabetes, Hypertension, Metabolic Syndrome and Pregnancy, 29 May – 1 June 2019, Florence-Italy.
  • Title: “New Generation Non-Invasive Genetic Testing for the Detection of Chromosomal Syndromes, Microdetion and Single Gene Diseases”, 4th Scientific Conference: "Prenatal Diagnosis and Treatment of Fetus", 18 May 2019, Athens-Greece.
  • Title: “Clinical utility of tissue and plasma DNA profiling of solid tumor cancer patients”, 2nd Conference “Genetic Innovations in 2019”, 7 February 2019, Kaunas, Lithuania.
  • Title: “Liquid Biobsy”, Annual Conference of ISMPO (India Society of Medical & Paediatric Oncology) - ISMPOCON JAIPUR 2018, 16-18 November 2018.
  • Title:’Genomics’, The omics & maternal-fetal - neonatal medicine from top research to the bed side; can we predict pregnancy complications? XXVI European Congress of the European Association of Perinatal Medicine, 5-8 September 2018, St. Petersburg, Russia.
  • Title: “cfDNA: Single gene disorders”, 17th World Congress in Fetal Medicine, 24-28 June 2018, Athens-Greece.
  • Title: “NIPT Beyond Aneuploidies”, Corporate Satellite Session during ESHG 2018 Conference, 17 June 2018, Milan-Italy.
  • “The Genome”. The 9th International Symposium on Diabetes, Hypertention, Metabolic Syndrome and Pregnancy, DIPAP2017, Barchelona, Spain, 8 March 2017, Invited Lecturer.
  • Title: “Genetics, Material Fetal Medicine and the Great Obstretrical Syndromes”. The 9th International Symposium on Diabetes, Hypertention, Metabolic Syndrome and Pregnancy, DIPAP2017, Barchelona, Spain, 8 March 2017.
  • Title: “A New Generation Non-invasive Prenatal Test for Genetics Disorders”. The First International Personalized Medicine Congress. Tehran. Iran. February 24-27, 2017.
  • Title: “Circulating Tumour DNA as a Non-invasive Biomarker in Cancer”. Genetics in Oncology, University of Kaunas, Kaunas, Lithuania. February 1-3, 2017.
  • Title: “Non Invasive Prenatal Testing of Genetic Disorders”. The 1st Asia-Pacific Symposium on Diabetes, Hypertention, Metabolic Syndrome and Pregnancy, DIPAP2016, Colombo, Sri Lanka, 8-10 September 2016.
  • Title: “Genetics Meets Fetal and Perinatal Medicine”. The 1st Asia-Pacific Symposium on Diabetes, Hypertention, Metabolic Syndrome and Pregnancy, DIPAP2016, Colombo, Sri Lanka, 8-10 September 2016.
  • Title: “Non Invasive Prenatal Diagnosis of Chromosomal Disorders”. 2nd International Conference of the Hellenic Society of Human Genetics, Athens, Greece. 4-6 November 2016, Invited Lecturer.
  • Title: “Non Invasive Prenatal Diagnosis of Genomic Disorders”. 5th International Conference of the Cyprus Society of Human Genetics, Nicosia, Cyprus. 14-15 October 2016.
  • Title: “When IVF meets NIPT: Another challenge to look at…”. Annual Meeting of the National Society of Obstetric and Gynegology, Tel Aviv, Israel. 8 March 2016.
  • Title: “Multiplex Parallel Analysis of Targeted Genomic Regions for NIPT”. Molecular Diagnostic Europe, Lisbon, Portugal. 4-7 April 2016.
  • Title: “New Generation Non-Invasive Prenatal Diagnosis with competitive advandages”, Eurogenetics Center, Thessaloniki, Greece, 25 April, 2016.
  • Title: “NIPT: Present and Future”, Two Forum – EXPO Athens, Athens, Greece.
  • Title: “Non-Invasive Prenatal Diagnosis using cffDNA”, Biomedical Center, Thessaloniki, Greece, 26 April, 2016.
  • Title: “Non-Invasive Prenatal Diagnosis using cffDNA”, University of Ioannina, Greece, 29 June, 2016.
  • Title: “Non-Invasive Prenatal Diagnosis of aneuploidies”, Biomedical Center, Athens, Greece,15 June, 2016.
  • Title: “The Veracity Test. Advances in Fetal Medicine Course. London, UK, 5-7 December 2015.
  • Title: “Development and Validation of the Veracity Non Invasive Prenatal Test., Advances in Prenatal Diagnosis. 16-19 November 2015. Boston, USA.
  • Title: “Development and Validation of the Veracity: a non-invasive prenatal test”, Vilnious University, Lithuania, 7 November, 2015.
  • Title: “Barriers and Drivers for the Implementation of Clinical Sequencing: An International Discussion Symposium”, American Society of Human Genetics Meeting, 6-10 October, 2015, Baltimore, USA. Invited Lecturer, Plenary Lecture.
  • Title: “Development and Validation of the Veracity: a newly highly accurate and cost effective non-invasive prenatal test”, Advance course in Ultrasound and Fetal Medicine, 2-4 October 2015, Belfast, UK.
  • Title: “Development and Validation of the Veracity: a non-invasive prenatal test”, Pan-Hellenic Perinatal Conference, 15-18 October 2015, Athens, Greece.
  • Title: “DNA-based Non Invasive Prenatal Diagnosis for Down Syndrome”, World Medical Summit, 7-9 July 2015, Macau, China.
  • Title: “Non Invasive Prenatal Diagnosis”, Lithuenian Academy of Science, Vilnious, Lithuenia, 16 December 2014.
  • Title: “Non Invasive Prenatal Diagnosis of Genetic Diseases”. Femmes d’ Europe, Brussels, Belgium, 16 October 2013.
  • Title: “Non Invasive Prenatal Diagnosis of Genetic Disorders”. BrainTrain EU Conference, Riken Institute, Yokahama, Japan, 19 September 2013.
  • Title: “Development of a New Non-Invasive Prenatal Diagnostic Method using Peripheral Maternal Blood Sample”. 1st Conference of the Society of Medical Geneticists, 30 May to 1 June 2013, Greece, Athens.
  • Title: “Non-Invasive Prenatal Diagnosis: From inception of the idea to the development of the product”. University of Ioannina School of Medicine, Ioannina, Greece.
  • Title: “Non Invasive prenatal diagnosis”. 11th World Congress in Fetal Medicine, 24-28 June 2012, Kos, Greece.
  • Title: “Further development and larger validation of non-invasive prenatal diagnosis for trisomy 21 using MeDIP real time qPCR”. European Society of Human Genetics 2012, 23-26 June 2012, Nurnberg, Germany.
  • Title: “Non-Invasive Prenatal Diagnosis for Trisomy 21 using MeDIP real time qPCR”. 4th Slovene Medical Genetics Symposium – New technologies and approaches in medical genetic diagnostics, 6 April 2012, Ljubljana, Slovenia.
  • Title: “Prenatal Diagnosis of Genetic Disorders: From Invasive to Non Invasive Prenatal Diagnosis”. International Down Syndrome Day, Hadassah Hospital, 22 March 2012, Jerusalem, Israel.
  • Title: “Development and Commercial Exploitation of Non-Invasive Prenatal Diagnosis”. Advanced Technologies in Medicine, Conference in Innovation, University of Crete, 25 – 26 February 2012, Greece, Cyprus.
  • Title: “Non-Invasive Prenatal Diagnosis of Down Syndrome”. 14th Conference of the Italian Society of Human Genetics (XIV SIGU), 13-16 Nov 2011, Milan, Italy.
  • Title: “Non-Invasive Prenatal Diagnosis of Down Syndrome”. 7th International Conference on Circulating Nucleic Acids in Plasma and Serum (CNAPS VII), 24-25 Oct 2011, Madrid, Spain.
  • Title: “Fetal-specific DNA methylation ratio permits non-invasive prenatal diagnosis of trisomy 21”. Cold Spring Harbor Laboratory: Personal Genomes, 30 Sept – 2 Oct 2011, New York, USA.
  • Title: “From invasive to non-invasive prenatal diagnosis”. The 5th International Conference on Birth Defects and Disabilities in the Developing World, 24-27 September 2011, Lodz, Poland.
  • Title: “Non-Invasive Prenatal Diagnosis of Down Syndrome”, Isida Clinic, 16 Sept 2011, Kiev, Ukraine.
  • Title: “Development and Validation of Non-Invasive Prenatal Diagnosis for Trisomy 21”. 8th European Cytogenetics Conference, European Cytogenetic Association, 2-5 July, 2011, Porto, Portugal.
  • Title: “Diagnosis of Aneuploides: Epigenetic Approach – Fetal-Specific DNA Methylation Ration Permits Non-Invasive Prenatal Diagnosis of Trisomy 21”. 10th Fetal Medicine World Congress, 26-30 June 2011, Malta.
  • Title: “Development and Validation of Non-Invasive Prenatal Diagnosis of Trisomy 21”. European Genetics Conference, European Society of Human Genetics, 28-31 May, 2011, Amsterdam, Netherlands.
  • Title: “Non-Invasive Prenatal Diagnosis of Down Syndrome”. University of Ioannina Medical School, 23 May, 2011, Ioannina, Greece.
  • Title: “Non-Invasive Prenatal Diagnosis of Down Syndrome”. Annual Conference of UK Clinical Molecular Genetics Society and UK Association of Clinical Cytogenetics, 4-8 April, 2011, Durham, UK.
  • Title: “Non-Invasive Prenatal Diagnosis of Down Syndrome”. MHTERA Hospital, 2-4 December 2010, Athens, Greece.

  • Title: Development of a novel, Preimplantation Genetic Testing (PGT) Kit. Competitive grant by Research Promotion Foundation, Cyprus.
  • Title: Accelerating the commercialization of non-invasive tests for liquid biopsy of solid tumor cancers (LIQ-BIOPSY). Competitive grant by Research Promotion Foundation, Cyprus.
  • Title: Proof of Concept study for ERC NIPD discovered biomarkers (mR-NIPD). Competitive grant by European Research Council (ERC) Proof of Concept Grant, European Union.
  • Title: A novel non-invasive prenatal diagnosis of genetic disorders (NIPD). Competitive grant by European Research Council (ERC) Advanced Investigator Grant, European Union.
  • Title: A new genetic laboratory for non-invasive prenatal diagnosis (ANGELAB). Competitive grant by 7th Framework Programme (ICT), European Union.
  • Title: Development and validation of a non-invasive prenatal diagnostic (NIPD) kit for aneuploidy detection (NIPD-KIT). Competitive grant by Eurostars Program, European Union and Cyprus Research Promotion Foundation.
  • Title: Development of an innovative non-invasive prenatal diagnostic test (NIPD21). Competitive grant by Ministry of Energy, Commerce, Industry and Tourism, Cyprus.
  • Title: Using fetal specific methylated markers for the development of non-invasive prenatal diagnosis for Down Syndrome. Competitive grant by Research Promotion Foundation (RPF) Young Researcher Award, Cyprus.
  • Title: Methods and compositions for non-invasive prenatal diagnosis
    of fetal aneuploidies. Competitive grant by Research Promotion Foundation Innovation, Cyprus

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NIPD Genetics - Privacy Policy

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