Health Killing off rare diseases

Killing off rare diseases

Researchers at Murdoch University have found a clever way to adapt existing technology to treat rare diseases.

They’ve developed synthetic molecules which restore enzyme production due to faulty genes.

The technology was originally used to produce drugs to treat Duchenne muscular dystrophy, a genetic disorder leading to progressive muscle deterioration.

The university’s Dr May Aung-Htut used the same technique to tackle Pompe disease, an inherited condition where mutant genes lead to enzyme deficiency, preventing muscles, nerves and organs from working properly

“In Pompe patients, there is either low level or no enzyme and this leads to an accumulation of glycogen in organs and tissues, mainly in muscles, causing impairment and an inability to perform a normal function,” she said.

Dr Aung-Htut’s synthetic molecules have been able to restore enzyme production in a majority of Pompe patients.

The molecules use the patients’ own cells to kick start enzyme production rather than supplementing with artificial enzymes.

“This should mean fewer side effects such as immune response, making the antisense drug we developed suitable for Pompe patients regardless of their genetic background,” said Dr Aung-Htut.

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