From | 2011-09-28 |
To | 2011-10-01 |
Course | Eye Genetics is a 4-day long postgraduate level course addressed to both researchers and clinicians seeking an up-to-date introduction to the field of ophthalmogenetics today. It provides an overview of the clinical developments of modern genetics in different fields of ophthalmology. The topics covered in the course are: hereditary retinal diseases, genetics of retinitis pigmentosa, genetics of age related macular degeneration, genetics of myopia, genetics of glaucoma, genetics of corneal pathology, genetics of optic nerve diseases, gene therapy. |
Venue | EuroMediterranean University Center of Bologna |
Directors | R. Allikmets (Columbia University, New York) A. Ciardella (U.O. Oftalmologia, Bologna) M. Seri (U.O. Genetica Medica, Bologna) |
Speakers | R. Allikmets (New York, USA) A. Auricchio (Naples, Italy) S. Banfi (Naples, Italy) P. Barboni (Bologna, Italy) W. Berger (Zurich, Switzerland) V. Carelli (Bologna, Italy) P. Bonneau ( Paris, France) A. Ciardella (Bologna, Italy) F. Cordeiro ( London, UK) V. Carelli (Bologna, Italy)F. Cremers (Nijmegen, The Netherlands) C. Graziano (Bologna, Italy) C. Inglehearn (Leeds, UK) N. Katsanis (Baltimore, USA) B. Leroy (Ghent, Belgium) T. Moore (London, Uk) K. Neveling (Nijmegen, the Netherlands) M. Seri (Bologna, Italy) A. Sodi (Florence, Italy) B. Veronica Van Heyningen (Edinburgh, UK) P. Yu Wai Man (London, UK) |
Programme | September 28th Morning Session: 9:00 - 9:15 Welcome 9:15 - 10:00 Introduction to EGF and Bologna (G. Romeo) 10:00 - 10:50 2 talks in parallel: (45 min + 5min discussion) Lecture Hall: 1) Overview of clinical ophthalmology for basic scientists (A. Ciardella and A. Sodi) Workshop Room: 2) Overview of basic medical genetics for ophthalmologists (B. Leroy) 10:50-11.35 (40 min + 5 discussion) Genetics of cone dystrophies/dysfunction syndromes (T. Moore) 11:35-12:00 Coffee Break (40 min talk + 5 discussion) 12:00-12:40 Molecular basis of non-syndromic and syndromic retinal and vitreoretinal diseases (W. Berger) 12:40-13.30 The role of non-coding RNAs in eye development and function (S. Banfi)
13:30-14:30 Lunch Afternoon Session : Concurrent Workshops 14:30-16:00 Lecture Hall: 1) Preparation: Student discussion group on interesting cases (clinical, molecular, families, etc.) they have encountered (T. Moore and B. Leroy) PC Lab: 2) Disease-causing mutations: finding, interpretation, nomenclature (W. Berger, R. Allikmets) Workshop Room: 3) Model organisms to study eye biology and disease (V. van Heyningen, N. Katsanis)
17:00-19:00 Guided Tour of Bologna September 29th Morning Session: 9:00- 9:40 IBD mapping in consanguineous and non-consanguineous families: finding retinal disease genes (F. Cremers) 9:.40- 10:20 Genetics of RP/LCA/CSNB (B. Leroy) 10:20- 11:15 Gene therapy for Leber Congenital Amaurosis (A. Auricchio) 11:15-11.45 Coffee Break 11.45-13:15 ( 2 talks 40 min 5 discussion) 11:45-12:30 Introduction to next-generation sequencing for eye diseases (K. Neveling) 12.30: 13.15 Retinal ciliopathies: diverse phenotypes with overlapping genetic structure (N. Katsanis) 13:15-14:15 Lunch Afternoon Session : 5 Concurrent Workshops 14:30-18:00 14:30-16:00 Lecture Hall: 1) Preparation: Student discussion group on interesting cases (clinical, molecular, families, etc.) they have encountered (T. Moore & B. Leroy). Workshop Room: 2) Model organisms to study eye biology and disease (V. van Heyningen, N. Katsanis). Pc Lab: 3) Genomics: technological developments and interpretation of results; the impact of next generation sequencing on retinal disease gene identification (F. Cremers and his team: Neveling and Inglehearn). 16.00-16.30 Coffee Break Lecture Hall: 4) Clinical approach to hereditary retinal diseases (A. Ciardella, M. Seri, C. Graziano, A. Sodi) Pc Room: 5) Disease-causing mutations: finding, interpretation, nomenclature (W. Berger, R. Allikmets)
September 30th 9.00-11.15 (40 min + 5 min discussion) 9:00-9:40 Architecture of genetic disease: causes, modifiers and the concept of genetic load ( N. Katsanis) 9:40- 10:20 Genetics of congenital cataract (T. Moore) 10:20- 11:15 Overview of developmental eye anomalies (V. van Heyningen) 11:15-11:45 Coffee Break 11:45-13:15 ( 40 minut talk + 5 min discussion) 11:45-12:35 Genetics of AMD (R. Allikmets) 12:35-13:15 Modifier genes in retinal diseases (F. Cremers) 13:15-14:15 Lunch 14. 15- 16.00 Lecture Hall Student presentations 16:00-16:30 Coffee Break Lecture Hall: Mitochondrial medicine in the eye (V. Carelli-) Genetics of DOA (P. Amati) Genetics of LHON (P. Yu WAi Mai) Mitochondrial RP (B. Laroy) Neurodegeneration in the eye (F. Cordeiro) Ophthalmic findings (P. Barboni) Concluding remarks (V. Carelli) October 1st Morning Sessio: 9:00-11:15 3 talks ( 40 min+ 5 discussion) 9:00-9:40 Stem cells in eye diseases (J. Sowden) 9:40-10:25 Genetics of glaucoma and myopia (C. Inglehearn) 10:25-11:15 Norrin and retinal blood vessel development (EVR, ROP, Norrie disease) (W. Berger) 11:15-11:45 Coffee Break 11:45-13:30 2 Concurrent workshops: Lecture Hall: 1) Clinical approach to hereditary retinal diseases (A. Ciardella, M. Seri, C. Graziano, A. Sodi) Pc Room: 2) Genomics: technological developments and interpretation of results; the impact of next generation sequencing on disease gene identification (F. Cremers and his team: Neveling and Inglehearn). 13:30-14:30 Lunch 14:30 Infinitum “Meet the faculty” and Summary of the Course Careers in science (clinical and molecular genetics): one shoe does not fit all. (N. Katsanis and all faculty) Conclusions Departure |