Presenter: Veronica van Heyningen, CBE, ANUK Patron
Thirty years after setting out to study the genetics of aniridia and to chase after the gene mutated in this eye anomaly, it is exciting and a great honour to be asked to become Patron of ANUK.
It is a role that needs to be developed collaboratively, with ANUK members having a say in what they hope we will achieve together. In setting the aims we need to bear in mind our strengths and weaknesses.
Having contributed significantly to the identification of the PAX6 gene, we worked in the laboratory with mice and fish to study the many functions of the gene, but some of the most important insights have come from the study of patients with aniridia and related eye problems.
One of our tasks has been to identify the precise mutation in many individuals. We collect our own results and those of others in a big publicly available database. Looking at all the information together can provide additional knowledge about the condition. I will tell you briefly about that and then we can explore together whether knowing your mutation is useful.