Common pathways from rare diseases

Dr Isabel Lopez Sanchez explains her work to help patients with Leber’s Hereditary Optic Neuropathy (LHON).


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Dr Isabel Lopez Sanchez is a new Principal Investigator at CERA who is building a global reputation in mitochondrial research, particularly in a disease called Leber’s Hereditary Optic Neuropathy (LHON).

This devastating disease causes sudden and irreversible blindness predominantly in young, healthy men. While it is the result of a single genetic mutation in the mitochondria, the cells powerhouse, it is a profoundly mysterious condition.

“Within the same family, one sibling may go blind, while another sibling with the identical LHON genetic mutation does not,” says Dr Lopez Sanchez.

In 2019, Dr Lopez Sanchez was awarded a fellowship to work at Sweden’s esteemed Karolinska Institute where she learned the very latest hi-tech CRISPR gene editing techniques and shared Australia’s expertise in sample collection.

Dr Lopez Sanchez is now using CRISPR to identify gene activity in sighted and blind people with the LHON mutation, and comparing this with sighted people who do not have the mutation.

Initial findings reveal two genes in the nucleus that may contribute to whether a person gets the disease or not. “If we can identify a gene that can be switched on or off, that’s potentially a way to prevent vision loss in the future.”

She is also focussed on translating this research into clinical results to preserve people’s sight. These recent discoveries may also prove relevant for more common diseases such as glaucoma.

“What I love about mitochondrial biology is that commonalities in genetic causes means there are common pathways to disease.”

Given that mitochondrial diseases are both rare and not well known, they do not readily attract mainstream funding, says Dr Lopez Sanchez, who is funded by the Mito Foundation, the Kimberley Family Foundation and the Ophthalmic Research Institute of Australia.

“Philanthropy is critical, and we could not do this medical research without it.”

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