CURRICULUM VITAE
Name:
University Education:
Further Training:
Present Academic Title:
Emmanuel Kanavakis
1965-71: Medical Degree, University of Athens
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.
Professor-Chairman, Medical Genetics, University of Athens,
Medical School, St.Sophia's Children's Hospital, Athens
11527, Greece.
Other Academic and Scientific Posts:
1. Chairman of University Research Institute for Genetics and Malignant Diseases
(EPIKN)
2. Chairman of Ethical Committee of Medical School of Athens University
3. Head of the Committee for Rare Diseases of Helenic Centre for Disease Control
and Prevention
4. Chairman of the committee for Rare Diseases of the Ministry of Health
5. Head of the Neuromuscular Disorders Unit at “Aghia Sophia” Children’s Hospital
6. Member of the Central Health Council
Clinical Involvement/Expertise
Clinical genetics and pediatrics.
Research activities and Experience
1. Clinical and molecular genetics.
2. Preventive pediatrics.
3. Pediatric hematology
Summary of Research Interests
1982-present: Genetic counceling to families and patients with genetic diseases.
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 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 βthalassemia, cystic fibrosis and other monogenic diseases.
2003-present: Molecular analysis of GLA gene in FABRY families
2003-present: Analysis of genes related to autism and neurodevelopmental disorders
(FMR-1, MECP2, UBE3A, CDKLS) phenotype-genotype correlation
studies.
2003-present: Studies on syndromes involving epigenetic alterations such as PWS/AS and
more recently BW/SRS
2003-present: Characterization of abnormalities implicated in sex differentiation disordes
and infertility.
2004-present: Molecular characterization and phnotype-genotype correlation of
neuromuscular disorders
2008-present: Molecular characterization and phenotype-genotype correlation of
congenital retinal disorders.
2009-present: Molecular cytogenetics (clinical application of High Resolution Array
Comparative Genomic Hybridization (array-CGH) for the study of patients
with mental retardation, autism and epileptic disorders)
2012-precent: Molecular characterization and phenotype-gentoytpe corellation of
neurofibromatosis type I.
2012-present: Molecular studies of skeletical dysplasias and mitochondrial diseases (for
diagnostic purposes).
2012-present: Application of aCGH to iPSCs at their undifferentiated stage and their
mesenchymal, neuronal, hematopoietic and osteogenic derivatives.
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, 2011
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, 2012.
Member of:
International Society of Pediatrics(ISP)
European Society for Pediatric Research (ESPR)
International Society of Haematology( ISH)
European Society of Human Genetics (ESHG)
European Society for Pediatric Haematology and Immunology (ESPHI)
European Society of Human Reproduction and Embryology (ESHRE)
European Cystic Fibrosis Society (ECFS)
European Haematology Association (EHA)
Hellenic Pediatric Society
Hellenic Hematology Society
Hellenic Association of Medical Genetics
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INTERNATIONAL PUBLICATIONS:
213
GREEK PUBLICATIONS:
55
BOOK EDITOR:
5
EDITOR OF TRANSLATED INTERNATIONAL BOOKS
IN GREEK LANGUAGE:
3
INTERNATIONAL ABSTRACTS:
130
INTERNATIONAL PRESENTATIONS IN CONFRERENCES: 210
INVITED SPEAKER:
30
GREEK PRESENTATION IN CONFERENCES:
150
LECTURES-ROUND TABLE-OPENING SPEECH:
110
CITATIONS:
2859
H-INDEX:
27