Monday 27 Giugno 2011 (2/11)
Aula Magna 2 piano Padiglione C EO Ospedali Galliera, Genova
 

        Coordinator: Prof. Romano Tenconi - University of Padova

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 PROGRAM 
Commenti all'Incontro-Prof. Tenconi

10:45
-Communications (R. Tenconi, PD)
 

11:00
Seminars (30m’-15m’ discussion):

-New answers to old diseases, treatments and care pathways in hemoglobinopathies and iron storage diseases (G. Forni, GE)  File .ppt

-Beckwith syndrome: what's new? (M. Silengo, TO) File .pdf
 

12:30
Educational (20 m')
 

-Recommendations for thrombophilia testing. GdL of Ligurian Department of Genetics and Consensus conference ISS (P. Mandich, GE). File .pdf

12:50
Lunch Break (Kindly offered by the Ligurian Department of Genetics)
 

13:20
WHAT WOULD YOU DO?

Opinions comparison: (M. Zollino, Roma/R. Tenconi, PD)(15’-15’discussion):

1) Unbalanced translocation in a balanced carrier parent's son. Which relatives test? Grandparents, siblings of parents, others at risk in reproductive age (and children?).

 2) Complete penetrance AD disease with mutation identified: do investigate the parents (how?) phenotypically healthy or simply advising PD for another pregnancy?

Classroom exercises on a complex/simulated consulting (coordinator M. Seri, BO) (20m’-10m’ discussion):
-A long way for a short-chain diagnosis (S.Miccoli, BO)

14:20
Current Projects

-Mutations analysis in epilepsy with custom aCGH and research of new genes. Some results. (M. Malacarne & D. Coviello, GE). 20’ discussion

14:40
-Clinical cases: previously presented and new (8'm presentation- 4'm counter-report-8'm discussion)
 

17.00
-Closing session.