From Discovery to You: How gene therapy is transforming motor neurone disease treatment

As an electrophysiologist Dr. Margreet Ridder is pioneering a new wave of discovery science to understand the causes and progression of motor neurone disease (MND). 

With support from a FightMND grant, Dr. Ridder is leading research that aims to determine whether gene therapy that slows motor neurone activity can improve health and potentially prevent the disease.

“Let’s consider the brain as a factory and the machines inside the factory as neurons, if they’re working at a normal steady pace then the factory is doing well and producing its goods,” Dr Ridder said.  

“If the machines get overactive and start producing goods at an accelerated rate, firstly what they’re producing isn’t going to be high quality, and secondly some of these machines will break down entirely. 

“That’s what we see in MND. These neurons are not functioning at a normal rate and toxic proteins accumulate in the cells where they eventually die.

“If we can slow down those machines, we might actually get the production of the factory to a normal rate.”

Researching gene therapy is a brand new strategy for treating MND, specifically in cases where there is a family history of the disease. 

Gene therapy  gives scientists the opportunity to replace or repair broken genes by introducing healthy genes into the nucleus.

“In MND there are a certain number of people who have a genetic predisposition to the disease,” Dr Ridder said. 

“If you have a mistake in your genes then the building blocks of your body will fail. 

“One of the problems that science has had to overcome was the delivery of these healthy genes into the cell but what’s interesting is that viruses are custom built for this job. 

“By removing all the harmful genetic information and leaving the virus shell, we have effectively turned viruses into tiny cargo containers that can deliver synthetic DNA or RNA into human cells.

“Hijacking these virus cells could provide a gene therapy pathway to treat all forms of MND.”

Dr Ridder credits her Group Leader, Professor Pankaj Sah, who steered her along this path more than a decade ago.  

Professor Sah is renowned for his own understanding of the neural circuitry of the amygdala, an area of the brain that plays a central role in learning and memory. 

He sees Margreet’s efforts as a clear demonstration of the value of discovery science. 

“Discovery research is the bedrock of all treatments,” Professor Sah said.  

“Discoveries often come from completely unexpected areas, and that’s what we look for at the Queensland Brain Institute."