Euro Aniridia Conference 2024 | Day 1: #08. Aniridia & the brain - Prof. James Lauderdale

This is the session dedicated to new research areas in aniridia hosted during the European Aniridia Conference 2024 held in Stockholm from May 31st to June 2nd.
Speaker: James Lauderdale, Assoc. Prof., University of Georgia, USA;
Biopic:
I am a developmental neuroscientist with over 30 years of experience studying the vertebrate eye and central nervous system. Much of my research is directed towards understanding the genes causal for human congenital eye disorders, such as aniridia. In addition to my research, I am active in organizations that represent, serve, and support persons affected by aniridia and their families. I am an invited expert for the Scientific Committee of Aniridia Europe and a founding board member and Scientific Chair of Aniridia North America.
Title of presentation
Aniridia and the Brain
Abstract of presentation
The PAX6 gene is essential for normal development and maintenance of the human eye and brain. Heterozygous loss-of-function mutations in PAX6 are causal for the human eye condition known as aniridia. In addition to changes in the eye, individuals with aniridia may also experience a decreased ability to smell, altered hearing, and changes in the functioning of other sensory processing systems. This talk will review what we currently know about non-eye changes associated with mutations in the PAX6 gene
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