Ρίμινι 1, 124 62, Χαϊδάρι, Αθήνα
pedattikon@gmail.com
+30 2105832228

Research Laboratory

Location: 3rd Department of Pediatrics, University General Hospital Attikon, 2nd floor

Tel: +302105832228, 1296

Fax: +302105832229

Anna Papadopoulou Biochemist-Molecular Biologist, DEA, PhD

 

The Research Laboratory of our Clinic is a non–profit laboratory at the Medical School of the University of Athens. Established in 2007, the Research Laboratory is dedicated to serve patients, physicians, and other members of the medical and research community in Attikon as well as in other hospitals in Greece. The Research Laboratory has a focus on rare genetic diseases for which testing is not readily available elsewhere. Full gene sequencing and other mutation detection methods has been set up for disease-related genes, such as VDR, CYP27B1, CaSR, LRP5, NPC1 & 2, PTPN11, FGF23, UGT1A1 etc. The Laboratory also provides a service of mutation confirmation in patients whose mutations have been identified in a research protocol and subsequent testing of family members for the particular familial mutation.

The main interest of the laboratory is in the research of rare genetic diseases, such as hereditary rickets (Hypocalcemic Vitamin D Resistant Rickets, Vitamin D-dependent rickets type I, Hereditary hypophosphatemic rickets with hypercalciuria), Noonan syndrome, Niemann Pick type C. To this end the Research Laboratory works closely with research groups in Greece and abroad, such as the Department of Medical Genetics, University of Athens; Service de Genetique Moleculaire et Clinique, Hopital Edouard Herriot, Lyon, France; Service de Biochimie et Genetique Moleculaire, Centre Hospitalier Universitaire de Limoges, France, Institute of Biology, Medicinal Chemistry & Biotechnology, National Hellenic Research Foundation, Athens, Greece; Institute of Biomedical Research, A. Fleming, Athens, Greece.

In line with its teaching and research duties as a university lab, the research lab of the Clinic hostes and educates PhD candidates that can combine research training in molecular genetics with their medical studies

Selective papers published in peer reviewed journals

 

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