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 Introduction to next-generation sequencing for eye diseases (K. Neveling)
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 The role of non-coding RNAs in eye development and function (S. Banfi)
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)
12:35-13:15Modifier 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:
16:30-18:30 Mitochondrial eye diseases (P. Barboni, V. Carelli, P. Bonneau, F. Cordeiro, P. Yu Wai Man, B. Leroy)
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