ERN Joint Webinar – COL4A1/A2-related disorders: spreading awareness of the associated phenotypic spectrum

ERN Joint Webinar – ERN-EYE, EpiCARE & VASCERN

COL4A1/A2-related disorders: spreading awareness of the associated phenotypic spectrum

Date and time

Thursday 17 July, 6.00 pm CET.

Programme

Moderators: Pr Dominique Brémond-Gignac & Dr Susana Noval, ERN-EYE.

1. Introduction to COL4A1/A2-related disease, Pr Douglas Gould, University of California, San Francisco, USA.
2. The phenotypic spectrum of COL4A1/A2: a cerebrovascular perspective, Dr Stéphanie GUEY, Hôpital Lariboisiere, Paris, France (full member of the European Reference Network VASCERN).
3. The epilepsy features of COL4A1/A2-disease, Pr Simona Balestrini, Neuroscience and Human Genetics Department, Meyer Children’s Hospital IRCCS (full member of the European Reference Network EpiCARE), University of Florence, Florence, Italy.
4. How ophthalmologists can help the team, Dr Giacomo Bacci, AOU Careggi – AOU Meyer Consortium, Florence, Italy (full member of the European Reference Network ERN-EYE).
5. Discussion and questions
6. Conclusions, Pr Douglas Gould, University of California, San Francisco, USA.

Registration

Biographies

Pr Douglas Gould

Dr Stéphanie Guey

Pr Simona Balestrini

Dr Giacomo Bacci