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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