PUBLIC SECTOR
Athens University Medical School, Department of Medical Genetics
Aghia Sophia Children’s Hospital
Choremio:
Rare diseases:
Haemolgobinopathies, Cystic Fibrosis, Duchenne & Becker Muscular Dystrophy, FacioScapuloHumeral Muscular Dystrophy, Spinal Muscular Atrophy (SMA), Fragile-X syndrome, Prader-Willi & Angelman Synromes, Wilson’s Disease, Rett Syndrome, Fabry Disease, Podocytopathies, Chromosomal disorders (Di George, Down’s Syndrome, Williams Syndrome), Microdeletion syndromes, Autism
Name: E. Kanavakis
Position: Professor and Chair of Dept.
Name: Ariadne Kalpini-Mavrou
Position: Assoc Professor
Name: Sophia Kitsiou-Tseli
Position: Assoc Prof
Name: Jan Traeger-Synodinos
Position: Assist Prof
Name: Elena Fryssira
Position: Assist Professor
Name: Maria Tzetis
Position: Lecturer
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First Department of Paediatrics, Choremis Research Institute
Aghia Sophia Children’s Hospital
Rare Diseases:
Congenital Adrenal Hyperplasia, Congenital Lipoid Adrenal Hyperplasia, Congenital Adrenal Hypoplasia, Low TSH Congenital Hypothyroidism, Multiple Pituitary Hormone Deficiency (Prop1), Sex Differentiation Disorders (SF1, SRD5A1), Aromatase Deficiency (CYP19), Hypogonadotrophic Hypogonadism (FGFR1), Hypoaldosteronism, Maturity Onset Diabetes of the Young, MODY 2 and 3
Name: G. Chrousos
Position: Professor Chair of Department
Name: A.M Magiakou
Position: Assistant Professor
Name: Ch. Kanaka-Gantenbein
Position: Assistant Professor
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University of Athens, Medical School
Rare diseases: Nosos Crohn, Ulcerative colitis, Sarcoidosis, Multiple sclerosis, Gestational diabetes
Name: Maria Gazouli
Position: Lecturer
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Biology Dept.
Rare Disease: Tuberous Sclerosis (TS)
Name: Dimitrios J Stravopodis
Position: Assist. Professor
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Institute of Child Health
Rare Diseases:
Lysosomal Storage Diseases, e.g. Gaucher, Fabry, Pompe disease; Mucopolysaccharidoses, Peroxisomal Diseases, Amino Acid Disorders, Congenital Disorders of Glycosylation
Name : Helen Michelakakis
Position: Head of Department of Enzymology and Cellular Function
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Rare diseases: Genetic eye disorders, Deafness
Name: Michael B. Petersen
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Laiko Hospital
Rare diseases: Hemoglobinopathies, Cystic Fibrosis,
Name: E. Voskaridou, Hematologist
Position: Head of Thalassemia Unit
Name: M. Papadakis
Position: Senior Biologist, Responsible for PNDiagnosis
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National Centre of Scientific Research “Demokritos”
Rare diseases:
Hereditary Breast Ovarian Cancer type I, II & III (HBOCI, II, & III), Hereditary non-Polyposis Colorectal Cancer (HNPCC), Familial Adenomatous Polyposis (FAP), MYH Associated Polyposis (MAP), Multiple Endocrine Neoplasia Type I & II (MEN I& II), Hereditary Diffused Gastric Cancer (HDGC), Peutz-Jeghers Syndrome (PJS), Cowden Syndrome (CS)
Name: D. Yannoukakos
Position: Director of Research
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Rare diseases: Tuberous Sclerosis, Neurofibromatosis
Name: G. Voutsinas
Position: Researcher B’
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Rare diseases: Tangier disease, Fish Eye Disease, Classical LCAT dificiency
Name: Angeliki Chroni
Position: Researcher B’
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Rare disease: Ankylosing Spondylitis
Name: E. Stratikos
Position: Researcher B’
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Biomedical Sciences Research Center “Alexander Fleming” (BSRC Fleming)
Rare Diseases: Crohn’s disease, Multiple Sclerosis, Ankylosing spondylitis, Enthesitis, Polyarthritis
Name: George Kollias
Position : President and Scientific Director
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National Hellenic Research Foundation
Rare Diseases: Sporadic Amyotrophic lateral sclerosis, Spinal Muscular Atrophy
Name: Spyros E. Zographos
Position: Researcher C’
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University of Patras, Medical School
Rare diseases: Childhood Idiopathic Thrombocytopenic Purpura (ITP), Adult ITP, Sjogren’s syndrome
Name: A. Mouzaki
Position: Professor
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Lab, General Biology
Rare diseases: β-thalassaemia intermedia, β-thalassaemia intermedia with high HbF without HPFH syndrome
Name: Adamantia Papachatzopoulou
Position: Assistant Professor
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Rare disease: Male infertility-Yq deletions
Name: Dionysios Spathas
Position: Associate Professor
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Rare Disease: Hyper IgE syndrome
Name: Dimitrios Papanastasiou
Position : Professor of Pediatrics
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Rare disease: Hyper-IgE syndrome
Name: Ioannis K. Zarkadis
Position: Associate Professor
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Rare Diseases: The Thalassaemias, Parkinson’s Disease
Name: Aglaia Athanassiadou
Position : Professor
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Department of Pharmacy
Rare Disease: Myasthenia gravis
Name: Socrates Tzartos
Position: Professor
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Rare Disease: Myasthenia gravis
Name: Konstantinos Poulas
Position : Lecturer
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Department of Pharmacy
Rare diseases: Multiple sclerosis, Parkinsosn’s disease
Name: Georgia Sotiropoulou
Position: Assoc. Professor
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Rare disease: Congenital megacolon (Hirspchsprung’s disease)
Name: Stavros Taraviras
Position: Assist. Professor
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Rare disease: Hyper-IgE syndrome
Name: Ioannis K. Zarkadis
Position: Associate Professor
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University General Hospital of Patras, Dept of Pediatrics
Laboratory of Medical Genetics,
Cytogenetics Unit
Rare diseases: Chromosome abnormalities, microdeletion syndromes
Name: Dr Eunice Stefanou
Position: Geneticist
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General Biology Medical School
Rare diseases: β-thalassaemia intermedia, β-thalassaemia intermedia with high HbF without HPFH syndrome
Name: Adamantia Papachatzopoulou
Position: assistant professor
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Rare disease: male infertility-Yq deletions
Name: Dionysios Spathas
Position: associate professor
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University of Thessaloniki
Dept. of Pharmacy
Rare disease: Fatal Infantile Cardioencephalomyopathy & Cytochrome C Oxidase deficiency, (a mitochondrial genetic disorder)
Name: Papadopoulou Lefkothea
Position: Assistant professor
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Hellenic Pasteur Institute
Rare diseases: Amyotrophic Lateral Sclerosis, Parkinson’s, Huntington’s, Multiple Sclerosis
Name: R. Matsas
Position: Research Director
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Rare diseases: Parkinsosn’s disease, Huntington disease
Name: Dimitra Thomaidou
Positiion: Researcher B’
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University of Ioannina, Medical School
Rare diseases: Chromosomal Abnormalities/ microdeletion syndromes, Mental Retardation/Seizures/ epilepsy
Name: Syrrou Maria
Position: Ass. Professor
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Genetic Unit
Rare Disease: Cystinuria
Name: Anthi Chatzikyriakidou
Position: Researcher, PhD
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Rare diseases: Greenberg Skeletal Dysplasia, Pelger-Huet anomaly (PHA), Ichthyosis, Friedreich’sataxia
Name: Spyros Georgatos
Position: Professor
Name: Anastasia Politi
Position: Assist. Professor
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Rare disease: Griscelli syndrome
Name: Savvas Christoforidis
Position: Assist. Professor
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Biomedical Research Foundation Academy of Athens,
Division of Genetics,
Clinical and Molecular Cytogenetics Lab
Rare diseases:,
Dyskeratosis Congenita, Aplastic Anemia, Idiopathic Pulmonary Fibrosis, Myelodysplastic syndromes, Chromosome microdeletion/microduplication syndromes: (Prader-Willi, Angelman, Williams, VCFS/Di George, Charcot-Marie-Tooth Disease, HNPP, Ectrodactyly), DNA Copy Number Variation in Mental Disease (Autism, Schizophrenia, Bipolar disorder)
Name: Sarantis Gagos
Position: Researcher C’
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Rare diseases: Congenital heart disease, Inflammatory bowel disease, i.e. Crohn’s disese and ulcerative colitis
Name: Katia Karalis
Position: Researcher B’
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Rare Disease: Charcot-Marie-Tooth 2D (mutations in the Glycyl-tRNA synthetase gene)
Name: D. Beis,
Position: Researcher C’
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Proteomics Research Unit
Rare Diseases: Chomosomal abnormalities (Down syndrome, Turner Syndrome, Klinefelter syndrome, TriploX syndrome)
Name: George Th. Tsangaris
Position: Research Scientist level A’
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Rare Diseases:
Cockayne Syndrome, Xeroderma Pigmentosum, Trichothiodystrophy, Cerebro-oculo-facio-skeletal syndrome type 1 (COFS1), De Sanctis-Cacchione syndrome (DSC)
Name: Maria Fousteri
Position : Researcher C
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University of Thessaly, Laboratory of Cytogenetics and Molecular Genetics
Chromosomal disorders, Microdeletion Syndromes
Rare Diseases: Osteoarthritis
Name:Aspasia Tsezou
Position: Associate Prof. Medical Genetics
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Democritus University of Thrace
Dept. of Molecular Biology and Genetics
Rare disease: Gilles de la Tourette Syndrome
Name: Peristera Paschou
Position: Lecturer
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Rare Disease: Costello syndrome, Achalasia-Addisonianism-Alacrima syndrome
Name: Giannoulis Fakis
Position: Lecturer in Human Genetics
Name: Katerina R. Katsani
Position: Lecturer in Protein Chemistry
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Pharmacology Lab
Rare diseases: Ulcerative colitis, Crohn’s disease, Irritable Bowel Syndrome, Cycling Vomiting Syndrome
Name: Katerina Xatzaki
Position: Assist. Professor
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Medical School
Rare Disease: IDIOPATHIC PULMONARY FIBROSIS, ALVEOLAR PROTEINOSIS, SARCOIDOSIS, Lymphangioleiomyomatosis (LAM)
Name: DEMOSTHENES BOUROS MD, PhD, FCCP
Position : Professor OF PNEUMONOLOGY
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Foundation for Research and Technology-Hellas (FORTH)
Rare disease : Galactosemia (inborn error)
Name : Klapa Maria
Title: Associate Researcher (Researcher C)
Affiliation: Institute of Chemical Engineering and High-Temperature Chemical Processes (ICE-HT)
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PRIVATE SECTOR
Private Institutions offering services(and/or participating in research protocols) in various Rare Diseases
