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PROGRAM
10:45
-Communications (R. Tenconi, PD)
11:00
Seminar (30m’-15m’ discussion):
-Loeys-Dietz Syndrome (M. Colombi, BS)
11:45
Are we ready for the clinical application of Next
Generation Sequencing?
- Introduction: O. Zuffardi (PV) 5m’
- an example of clinical application: exome shared
in homozygosis in the two children of consanguineous
brothers with a complex form of leukodystrophy (T.
Pippucci, BO) 15 m’
- TR: Update on NGS in Italy (S. Giglio, FI; M.
Iascone, BG; A. Renieri, SI; M. Seri, BO; M.
Tartaglia, Roma; O. Zuffardi, PV) 30 m’+Discussion
15 m’
12:50
Educational:
-Gestaltic test on malformative syndromes (M. Priolo,
RC) 20m’
13:10
Lunch Break
13:40
Classroom exercises on a complex/simulated
consulting (coordinator M. Seri, BO) 30m’: Myotonic
confusion (C. Graziano, BO)
14:10
Current Projects:
-Glossary of morphological terms: simplified ears,
ears with calcified cartilage (M. Della Monica, BN)
15m'
-GdL document of Clinical Genetics SIGU: Chromosomal
Microarrays Techniques for genetic diagnosis of
intellectual disabilities and birth defects (3rd
version) (R. Tenconi, PD) 10m'
-CBCD European project: molecular basis of
congenital defects of the cerebellum and brainstem.
Clinical characterization and molecular
neuro-developmental model in vitro embryo. (ME
Valente-Roma) 15m’
Papers in press/submitted:
-Limb-Pelvis-Uterus Hypoplasia/Aplasia. AJMG in
press (L. Garavelli and coll. RE) 10m'
15:00
-Clinical cases: previously presented and new
(8'm presentation- 4'm counter-report-8'm
discussion)
*Follow-up
March 13, 2012: The diagnosis of
Nicolaides-Baraitser s. was confirmed by the
presence of a de novo mutation in SMARCA2 gene (Nat
Genet 2012 Feb 26)
17.00
-Closing session: Greetings and Best Wishes
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