Εργαστήρια & Κέντρα Σπάνιων Παθήσεων - Σελίδα
  • 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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