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Neuroscience & Mental Health


By learning from their family histories.

Genetic research from King’s College London has had significant impact on the current and future care of people with motor neuron disease (MND). 

MND (also known as amyotrophic lateral sclerosis) is a muscle-wasting disease that affects two in every 100,000 people in the UK. Researchers led by Professor Chris Shaw, Professor of Neurology and Neurogenetics at the Institute of Psychiatry, have discovered several MND-causing genes. 

Diagnostic and research laboratories worldwide have now used this discovery to improve early diagnosis and facilitate predictive gene testing in high-risk families.  Crucially, our research has enabled children to be born free of MND by pre-implantation genetic diagnosis. 

A small percentage of people with MND have inherited the illness due to a genetic defect passed on from one of their parents.

Case study: Linda’s story

Three generations of Linda’s family has the gene. 

Three years ago, when she and her husband Craig began discussing whether to have children, her father put her in touch with Professor Shaw. Through pre-implantation genetic diagnosis (PGD) performed at Guy’s Hospital, last year, Linda gave birth to a son who does not carry the defective gene.

Linda says: ‘My mum died in 1998. She had taken part in Professor Shaw’s research to find the motor neuron gene. She was one of the first people that they identified the gene in. Her father had died of it, but it wasn’t until she became ill that she realised it was the hereditary form.’

‘Because Professor Shaw and his team identified the gene, it meant my brother, my sister and I could have the test to see if we carried the gene or not,’ she continues. ‘Craig and I met with Chris, and he explained the process for having the gene test. He also told us about PGD, which stops genes like this from being passed on.’

Linda goes on to explain how the process works: ‘PGD is similar to in vitro fertilisation. You get lots of eggs, and you fertilise the eggs. When the embryos are 10 cells in size, they take one cell out and test for the motor neuron gene. We had five fertilised. Three didn’t have the gene and two did. They put the best one back in and, lo and behold, it worked. Our son was the first child in the UK conceived through PGD for motor neuron disease. He’s brought a lot of joy to the whole family. It’s just amazing to know that he’s OK and he won’t go through this horrible illness.’

Sadly, Linda’s brother did have the disease. She says: ‘My brother developed the symptoms in 2011. His illness paralleled our PGD process. Our son was born on 10 February last year, and my brother died on 23 February. Against the odds, he hung on to meet his nephew.’

Happily, however, Linda now knows that because of her mother’s participation in Professor Shaw’s research, future generations of her family are free from developing the condition. She concludes: ‘My sister had the gene test last year, and she doesn’t carry the gene. It’s a blessing to know that for our family this illness stops with this generation. We feel very lucky, and it all started with Chris and my mum all that time ago.’

Please support us in our efforts to help families like Linda’s. Donate today and make a difference to someone’s future. Thank you.

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