Inherited Eye Diseases and Mitochondrial Genetics

Summary

I am an academic neuro-ophthalmologist with a major research interest in mitochondrial genetics and inherited eye diseases. I coordinate a specialist clinical service for patients with mitochondrial eye diseases in Cambridge and London.

Over the past 20 years, we have established a national cohort of patients with inherited optic neuropathies and we are using this unique resource for deep phenotyping, biomarker profiling, and to push forward with an active translational research programme, including gene therapy.

I am the Director of the Cambridge Clinical Vision Laboratory that was set up as a cross-cutting facility to support advanced therapeutics on the Cambridge Biomedical Campus. 

I have long-standing collaborations with other principal investigators in the Cambridge Centre for Brain Repair, the Cambridge MRC Mitochondrial Biology Unit and the UCL Institute of Ophthalmology in London. 

Project aims

My research group is focused on dissecting the disease mechanisms leading to progressive retinal ganglion cell loss in inherited optic neuropathies by using a combination of patient tissues, induced pluripotent stem cells and animal models. 

The project themes are, gene discovery in inherited optic neuropathies, dissecting disease mechanisms using iPSC-derived retinal ganglion cells, zebrafish models of Wolfram syndrome and therapeutics, and biomarker discovery and novel gene therapies for inherited optic neuropathies.  

This extensive research network will provide the student with access to a wide source of expertise, tailored supervision and the opportunity to develop a broad skill set as the project evolves. 

Contact details

 Prof Patrick Yu-Wai-Man (py237@cam.ac.uk) – Neurology  

Opportunities

This project is open to applicants who want to do a:

• PhD
• MPhil