Course in Eye Genetics

October 13

 

9:00 - 9:10Welcome

 

9:10 - 9:552 parallel talks: (40 min + 5 min discussion)

 

Lecture Hall

1. Overview of clinical ophthalmology for basic scientists

Antonio Ciardella

 

Meeting Room

1. Overview of basic medical genetics for ophthalmologists

Bart Leroy

 

10:00 - 11:30 2 talks (40 min + 5 min discussion)

1. Genetics of glaucoma

Jane Sowden

 

4.IBD mapping in consanguineous and non-consanguineous families: finding retinal disease genes

Frans Cremers

 

11:35-12:00 Break

 

12:00-13:30  2 talks (40 min + 5 min discussion)

 

1. Molecular basis of non-syndromic and syndromic retinal and vitreoretinal diseases

Wolfgang Berger

 

1. Introduction to next-generation sequencing for eye diseases

KorneliaNeveling

 

13:30-14:30 Lunch

 

14:30-16:15                3 parallel workshops

 

Lecture hall

WS1    Preparation: Student discussion group on interesting cases (clinical, molecular, families, etc.) they have encountered (Black& Leroy)

 

Meeting room

WS4    Genetic counseling (Hall & Seri)

 

Computer room

WS5    Genomics: technological developments and interpretation of results; the impact of next generation sequencing on retinal disease gene identification (Cremers &Neveling)

 

 

16:15-16:45                break

 

16:45-18:30                3 parallel workshops

 

Lecture hall

WS1    Preparation: Student discussion group on interesting cases (clinical, molecular, families, etc.) they have encountered (Black & Leroy)

 

Meeting room

WS2    Clinical approach to hereditary retinal diseases (Ciardella, Graziano, Sodi) 

 

Computer room

WS3    Disease-causing mutations: finding, interpretation, nomenclature (Berger & Allikmets)

 

October 14

 

9:00 - 11:15  3 talks (40 min + 5 min discussion)

 

1. Genetics of RP/LCA/CSNB

Bart Leroy

 

1. Stem cells in eye diseases

Jane Sowden

 

1. Genetics of corneal diseases

Graeme Black

 

11:15 - 11:45Break

 

11:45-13:15  2 talks (40 min + 5 min discussion)

 

1. Gene therapy for recessive and dominant eye diseases

Enrico Surace

 

1. Retinal ciliopathies: diverse phenotypes with overlapping genetic structure

Nicholas Katsanis

 

13:15-14:15Lunch

 

14:15-16:00                3 parallel workshops

 

Lecture hall

WS2    Clinical approach to hereditary retinal diseases (Ciardella, Graziano, Sodi)

 

Meeting room

WS4    Genetic counseling (Hall & Seri)

 

Computer room

WS3    Disease-causing mutations: finding, interpretation, nomenclature (Berger & Allikmets)

 

16:00-16:30                break

 

16:30-18:15                2 parallel workshops

 

Lecture hall

WS1    Final preparation for student presentations and selection of 10-12 cases for presentation (Black & Leroy)

 

Computer room

WS5    Genomics: technological developments and interpretation of results; the impact of next generation sequencing on retinal disease gene identification (Cremers &Neveling)

 

 

October 15

 

9:00 - 11:153 talks (40 min + 5 min discussion)

 

1. Architecture of genetic disease: causes, modifiers and the concept of genetic
   load

Nicholas Katsanis

 

1. Genetics of AMD 

Rando Allikmets

 

1. Overview of developmental eye anomalies

Graeme Black

 

11:15-11:45 Break

 

11:45-13:15  2 talks (40 min + 5 min discussion)

 

1. The role for non-coding RNAs in eye development, function and diseases

Sandro Banfi

 

1. Modifier genes in retinal diseases

Frans Cremers

 

13:15-14:15 Lunch

 

14:15-15:45    Student presentations

 

15:45-16:15                break

 

16:15-17:45    3 shorter talks (25 min +5 min discussion)

 

1. Genetics of mitochondrial diseases and retinopathies

Bart Leroy

 

1. Mitochondrial optic neuropathies

Piero Barboni

 

1. Treatment options for mitochondrial eye disease

Valerio Carelli

 

18:00-19:00    Feedback on student presentations, awards presentation, summary of the course