Patrick Yu-Wai-Man
University of Cambridge, United Kingdom
We are currently focusing our efforts on the following research areas.
- Disease progression and biomarkers
We are collecting a comprehensive range of ophthalmological data on individuals who have been confirmed to carry pathogenic WFS1 mutations, including high-resolution optical tomography tomography imaging and visual electrophysiology. We want to carefully document the changes happening in the retina and in the optic nerve, and how these relate to the worsening of vision. Our aim is to find out which are the best tests to detect whether the disease is progressing and eventually, the same tests can be used in future clinical trials to determine whether a new treatment is effective (or not).
- Zebrafish model of Wolfram syndrome
After spending much effort in the lab, we have developed a zebrafish model of Wolfram syndrome that replicates the RGC loss and visual dysfunction seen in individuals with this genetic condition. The availability of a zebrafish model for Wolfram syndrome provides a powerful tool to better understand the disease mechanisms that result in RGC loss and to screen for drugs that could potentially block this from happening in an effort to preserve vision.