About 80% of rare diseases have a genetic component. Mitochondria are unique in containing their own genetic code that we inherit only from our mothers. If there is a genetic mutation in one of the 37 genes contained with the mitochondrial genetic code, the disease can be passed from mother to child. A genetic mutation is like a spelling mistake in the genetic make-up of a cell.
Genetic technology has greatly improved our understanding of mitochondrial disease and other genetic eye diseases. “We are now able to find the genetic mistake and give a confirmed diagnosis in over 60% of patients who have a suspected inherited eye condition - something that was not possible 10 years ago,” says Patrick Yu Wai Man, consultant ophthalmologist at Moorfields Private.
“Easier and cheaper access to genetic testing is a game changer that is revolutionising the way we practice medicine.”
A confirmed genetic diagnosis can help predict how a particular inherited eye condition will develop and progress over time and is the best way to prevent or minimise complications before irreversible damage has been caused.
Doctors are then in a position to advice other family members on whether they have inherited the genetic mutation or the likelihood of passing it on to future children. Importantly, knowing the genetic mutation improves access to research studies and clinical trials that are exploring new treatments, such as gene therapy.