European School of Genetic Medicine, Bologna
23-25 September, 2010
Wednesday, September 22 - Arrival in Bologna Thursday, September 23rd Morning session: 08.30 - 09:00 REGISTRATION 09:00: A. Ciardella, Overview of eye anatomy, physiology and clinical ophthalmology 09:50: W. Berger, Molecular basis of non-syndromic and syndromic retinal and vitreoretinal diseases 10:40: S. Bhattacharya, RP Genetics 11:30: Coffee break 12:00: C. Inglehearn, Glaucoma Genetics 12:45: A. Gal, Modifier genes in retinal diseases Questions from students at the end of each lecture 13:30: Lunch break Afternoon session: 14:30 - 18:00 Concurrent workshops WS 1: A. Gal, Preparation: Student discussion group on interesting cases (clinical, molecular, families, etc.) they have encountered WS 2: F. Simonelli, M. Seri, other MDs, Approach to the patient with hereditary retinal disease, including syndromic diseases WS 3: W. Berger, R. Allikmets, Disease-causing mutations: finding, interpretation, nomenclature WS 4: V. Van Heyningen, N. Katsanis, Model organism to study eye biology and disease 16:00: Coffee break WS 5: F. Cremers, S. Banfi, N. Katsanis, C. Inglehearn, R. Allikmets, Genomics: technological developments and interpretation of results; the impact of next generation sequencing on disease gene identification WS 6: A. Ciardella, Imaging of hereditary retinal disease WS 1 WS 2 Friday, September 24th Morning session: 09:00: F. Cremers, IBD mapping in consanguineous and non-consanguineous families: finding retinal disease genes 09:50: R. Allikmets, AMD Genetics 10:40: C. Inglehearn, Myopia Genetics 11:30: Coffee break 12:00: V. Van Heyningen, Overview of developmental eye anomalies 12:45: N. Katsanis, Retinal ciliopathies: diverse phenotypes with overlapping genetic structure Questions from students at the end of each lecture 13:30: Lunch break Afternoon session: WS 3 WS 4 WS 5 WS 6 16:00: Coffee break 16:30 - 18: 00: STUDENT PRESENTATIONS Saturday, September 25th Morning session: 09:00: N. Katsanis, Architecture of genetic disease: causes, modifiers and the concept of genetic load 09:50: W. Berger, Norrin and retinal blood vessel development (EVR, ROP, Norrie disease) 10:40: P. Barboni, Leber's hereditary optic neuropathy 11:30: Coffee break 12:00: S. Banfi, The role of non-coding RNAs in eye development and function 12:45: F. Simonelli, Gene therapy for Leber's Congenital Amaurosis: Results of the clinical trial Questions from students at the end of each lecture 13:30: Lunch break Afternoon session: 14:30 - 16:00: STUDENT PRESENTATIONS 16:00: Coffee break 16:30 - 18: 00: STUDENT PRESENTATIONS
|