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Thalassemia as an example of a complex disease: clinical and research management from childhood to adulthood. Instructor: Prof. Giorgia Mandrile

Docente
Giorgia Mandrile (Coordinatore)
Corso di studio
Programma MD-PhD della Scuola di Medicina
Tipologia
teorico-pratico
Erogazione
Frequenza di laboratori e/o reparti
Lingua
Italiano
Frequenza
Obbligatoria
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Sommario insegnamento

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Programma

The project is aimed to train the MD student in the management of genetic and acquired red cell rare diseases iron metabolism. The main pathologies followed are thalassemia, sickle cell anemia, hemoglobinopathies, spherocitosis, ellissocytosis, pyruvate kinase deficit, glucose-6-phosphate dehydrogenase deficit, iron deficiency and iron overload disorders including hemochromatosis.

For each disease the student will focus on the patient follow up with a evidence based multidisciplinary approach, including also the transition from pediatric to adult age. The clinical diagnosis, assistance and care of rare disease are intimately linked to clinical research projects: the MD student will participate in some clinical trials of hemoglobin production inducers and iron chelators, will be trained on the entire path of a scientific work, from the challenge of the study hypothesis to a full authorship in the scientific publication. He will be formed in the design, management and data analyses of prospective and retrospective observational studies aimed to improve the clinical knowledges of rare diseases.

Moreover, the student will observe the program of prevention and prenatal diagnosis for rare hematological diseases, for which the Centre is providing genetic counseling.

The course will include a few theorical activities (10-20%) and most of the time will be dedicated to practical activities (clinical advice, research projects), clinical case presentations and journal club.

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Attività di supporto

Co-workers: Filomena Longo, Vincenzo Voi

Testi consigliati e bibliografia



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Note

  • Progetto del corso: Epidemiologia e genetica delle malattie multifattoriali
  • Scientific qualification of the PI: Entrez-PubMed Link to publications of prof. Giorgia Mandrile
  • Laboratory/Clinical Division, Department, Address, contacts:
    The Centre has a long experience in genetic and acquired red cell diseases (mainly Hemoglobinopathies) and iron metabolism, for which the Centre provides advice to patients of any age and is an active part of EuroBloodNet, one of the new European Network for Rare Diseases (ERN).
    Location: San Luigi Gonzaga Hospital, 1° pavilion, 3° floor, right side. 
Registrazione
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    Apertura registrazione
    01/03/2020 alle ore 00:00
    Chiusura registrazione
    31/12/2022 alle ore 23:55
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    Ultimo aggiornamento: 30/10/2019 11:53
    Location: https://www.medicina-mdphd.unito.it/robots.html
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