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Course in Eye Genetics

 
  July 20, 2010  
     
 
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

 
 
Organized by: European Genetics Foundation
Invited Speakers:

DIRECTORS: Rando Allikmets (New York, USA), Antonio Ciardella (Bologna, Italy), Marco Seri (Bologna, Italy)

SPEAKERS:

Sandro Banfi (Napoli, Italy), Piero Barboni (Bologna, Italy), Wolfgang Berger (Zurich, Switzerland), Shomi Bhattacharya (London, UK), Frans Cremers (Nijmegen, The Netherlands), Andreas Gal (Hamburg, Germany), Chris Inglehearn (Leeds, Uk), Nicholas Katsanis (Baltimore, USA), Francesca Simonelli (Napoli, Italy), Veronica Van Heyningen (Edinburgh, UK)

 
Deadline for Abstracts: 10th September
 
Registration:

only on-line registration is available on EGF website www.eurogene.org

 

E-mail: giuseppina.digiglio@eurogene.org
 
   
 
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