The Centre for Eye Research Australia (CERA) has appointed Dr Isabel Lopez Sanchez to Investigate the mysteries of Leber’s Hereditary Optic Neuropathy (LHON), a genetic disease that affects the mitochondria of the retinal ganglion cells.
LHON causes these cells to lose energy and stop working, leading to vision loss. The onset can be dramatic, with some people effected losing their sight in a matter of days.
The extremely rare disease affects only about 60 families in Australia and although it can affect anyone, vision loss from LHON predominantly occurs in men in their late teens or early 20s.
By studying the minute cellular and molecular changes that occur in LHON, Dr Lopez Sanchez hopes to make discoveries that will lead to treatments to prevent or reverse the disease.
“I want to understand the small, detailed steps which occur between what is happening in the genes and the disease,” she says.
“Genetic causes of diseases can be similar but manifest in different ways. Why, for example, will one sibling with a mutation develop the disease, while another will not?
“There is so little we know about LHON and studying it will help us understand more about all mitochondrial diseases, and also potentially much more common eye diseases such as glaucoma.”
Dr Lopez Sanchez says the families affected by mitochondrial diseases keep her motivated to find treatments and cures.