Εργαστήρια & Κέντρα Σπάνιων Παθήσεων

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