Cambridge researcher wins prestigious award for rare eye disease gene replacement therapy research

Neuroscience researcher Professor Patrick Yu-Wai-Man has won the 2023 Ludwig von Sallmann Clinician-Scientist Award from the Association for Research in Vision and Ophthalmology (ARVO) Foundation.

The award was given in recognition of Prof Yu-Wai-Man’s research on gene replacement therapy for Leber hereditary optic neuropathy (LHON).

LHON is a genetic disorder caused by mutations in mitochondrial DNA (mtDNA). Strictly inherited down the maternal line, it is an important cause of inherited blindness in the young adult population. Currently, there are limited treatment options for LHON and most affected individuals will remain within the legal criteria for blindness.

Prof Yu-Wai-Man said: “I have been working in the field of mitochondrial diseases for nearly 25 years and despite the amazing advances made during that period, finding effective treatments has proven challenging.

“Mitochondrial optic neuropathies have led the way and this award is a recognition of the translational breakthroughs seen in recent years, in particular gene replacement therapy for Leber hereditary optic neuropathy.”

Prof Yu-Wai-Man has worked on several studies using a modified version of the MT-ND4 mitochondrial gene packaged into an adeno-associated viral vector (AAV2) that is injected into the eye. Promising results have been obtained for individuals treated within one year of disease onset with a significant and sustained improvement in vision observed during long-term follow-up.

On receiving the Ludwig von Sallmann Clinician-Scientist Award, Prof Yu-Wai-Man said: “It is a great honour and my hope is that this award will highlight the significant unmet needs for individuals affected with mitochondrial optic neuropathies, which result in significant visual impairment in children and young adults.

“We need to attract more research funding and talents into rare genetic eye diseases. Success breeds success and the future certainly looks bright in this field.”

This article is adapted from arvo.org