Update on gene therapy approaches to treating neurodegenerative disease

Every day there are two sets of talks going on at the same time during the International Symposium. On Saturday morning there was a symmetry to what was being discussed in these parallel sessions. Both were talking about the inherited form of motor neurone disease (MND). One as reported from Sara’s blog was from the clinical perspective of talking through the possibilities and implications of having a genetic test, if the inherited form of MND runs in the family. I was in the other set of talks going on – exploring ways to develop treatments for inherited MND.

For those with inherited MND there are not currently any treatments to prevent the effects of the gene damage that is being passed from one generation to the next. However, research is underway to find such treatments. As these treatments are, by definition, designed to alter how these faulty genes work, they’re collectively known as gene therapy.

Different approaches in gene therapy

All three talks in this session of the symposium talked about a different, complementary approaches. Adrian Krainer spoke about ways to alter how genes are read. In the following presentation Brian Kaspar explained his research into ways to get copies of the healthy, unaffected gene into the body and working to counteract the damaged gene. They both showed how gene therapy might work in the neuromuscular disease spinal muscular atrophy (SMA), however the principals of how they work can be applied to MND.Read More »

Spinal Muscular Atrophy – final stages of development of a treatment

In the Sheffield Institute for Translational Neuroscience (SITraN), the gene therapy group led by Prof Mimoun Azzouz is approaching the final stages of preclinical development of a treatment for Spinal Muscular Atrophy (a childhood disease of the motor neurones). Here Chris Binny explains more about the group’s work.

About Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is an inherited disease affecting between 1/6,000 and 1/10,000 newborns. These patients have inherited two faulty copies of the SMN1 gene and, as a result, can’t make enough of the protein “survival of motor neuron” or SMN. This causes the gradual loss of motor neurons, causing progressive muscle weakness and paralysis beginning in the lower legs and spreading upwards over a period of months or years. Read More »

Understanding Spinal Muscular Atrophy: could plant derived compounds hold the key?

On 3 March 2014, researchers based at the University of Edinburgh published a research paper that extends our understanding of the childhood disease – Spinal Muscular Atrophy (SMA).

Although this is not MND so-to-speak, the disease does affect the motor neurones. Plus, the results were so interesting; I couldn’t resist writing a blog post about them.

Floppy baby syndrome

SMA is a childhood disease of the motor neurones and is sometimes known as ‘floppy baby syndrome’. It affects 1 in 6,000 births making it more common than MND, which affects approximately 1 in 100,000 people.

Read More »