Kanavakis Emmanouel

Mr. Emmanouel Kanavakis is Professor - Head of Medical Genetics Lab, Athens University, Medical School, “Choremeio” Research Laboratory, Children's Hospital "Aghia Sophia".



University education:
1965-71: Medical Degree, University of Athens

Further Training:
1972-76: Specialization in Pediatrics, First Dept of Pediatrics, University of Athens.
1979: Three month training period in the prenatal diagnosis of thalassemia, University College Hospital, London.
1979-81: Two year research fellowship in molecular genetics of the thalassemia syndromes in the Nuffield Dept Medicine, John Radcliffe Hospital, Oxford.

Present academic title:
Associate Professor-Chairman, Medical Genetics, University of Athens, Medical School, St.Sophia's Children's Hospital, Athens 11527, Greece.

Clinical involvement/Expertise:
Clinical genetics and pediatrics

Research activities and experience:
Clinical and molecular genetics
Preventive pediatrics
Pediatric hematology

Summary of research interests:
1982-present: Characterization of the molecular basis of the thalassemia syndromes in Greece, mainly the α-thalassemias and unusual forms of β-thalassemias and application to carrier and prenatal diagnosis and phenotype/genotype correlation.
1991-1993: Characterization of the mutations in the phenylalanine hydroxylase gene which cause phenylketonuria (PKU) and hyperphenylananemia (HPA) in the Greek population.
1992-present: Characterization of the mutations in the CFTR gene underlying cystic fibrosis in Greek CF patients and in addition haplotype analysis with the aim of offering prenatal diagnosis, carrier screening to family-members of affected individuals (both already initiated), and assessing phenotype/genotype correlation.
1993-present: Characterization of the Wilson's disease (with application for preclinical and prenatal diagnosis) and mutation identification causative for the disease.
1997-1999: Characterization of the molecular basis of Low-Density Lipoprotein Receptor gene in Greek Familial Hypercholesterolemia patients.
2000-present: Molecular characterization of Gilbert's syndrome in patients with thalassemia syndromes and children with idiopathic cholelithiasis.
2000-present: Application of DNA techniques for preimplantation genetic diagnosis of β-thalassemia and cystic fibrosis.

Greek publications - Lectures - Papers:
Publications: 47
Lectures/Papers: 60

International publications - Lectures - Papers:
Publications: 93
Lectures/Papers: 39

Awards for research achievements:

  1. Award of Greek Medical Society, 1982
  2. Hellenic Society of Hematology, 1983
  3. Academy of Athens, 1984
  4. Choremion Award: Annual Award of the Greek Society of Pediatrics for years, 1982, 1983, 1985, 1986, 1987, 1989, 1991, 1992, 1993, 1994, 1995, 1996, 1997, 1998, 1999, 2000, 2001, 2004.

Member of:

  1. International Society of Pediatrics(ISP)
  2. European Society for Pediatric Research (ESPR)
  3. International Society of Haematology( ISH)
  4. European Society of Human Genetics (ESHG)
  5. European Society for Pediatric Haematology and Immunology (ESPHI)
  6. European Society of Human Reproduction and Embryology (ESHRE)
  7. European Cystic Fibrosis Society (ECFS)
  8. European Haematology Association (EHA)
  9. Hellenic Pediatric Society
  10. Hellenic Hematology Society
  11. Hellenic Association of Medical Genetics

International publications: 182
Greek publications: 55
Book editor: 5
Editor of translated international books in Greek language: 3
International abstracts: 71
International presentations in conferences: 170
Invited speaker: 30
Greek presentation in conferences: 150
Invited speaker: 83
Lectures - Round tables - Opening speech: 72

Contact details:

Address St.Sophia's Children's Hospital
Thivon & Levadias str.
115 27 Athens, Hellas
Telephone +30 210 7795553
+30 210 7467468
Fax +30 210 7795553
E-mail ekanavak@med.uoa.gr
Website http://iatriki-genetiki.med.uoa.gr