“The gene my family carries could help the world understand MND. But we need your help.”John with his wife Jean, who died from MND in 2013.

…research is the best hope we’ve got.”

“MND has been a catastrophe for my family…

“I was once told the odds of having genetic MND are like winning the lottery. My family hasn’t been lucky. My wife Jean died from MND in 2013.

Jean’s dad died from MND too, back in the eighties. We thought nothing more of it, but then, in 2010, Jean started to have symptoms.

For a long time after Jean was diagnosed, we were absolutely fine. We had holidays, went to watch the football, spent time with our children. But in 2013, everything began to fall apart. In the end, you can’t ignore MND – in its final moments, MND is terrible for everybody.

We later discovered that Jean’s cousin, aunt and uncle had also lost their lives to the disease – and earlier this year, Jean’s brother died too. We now know that our lovely daughter Lucy carries the mutation. One day, she may too develop MND.

This gene has caused so much pain throughout the generations – it’s time it was stopped. That’s why I’m passionate about supporting research, because we can’t stop until we know how to cure this.”

“I’m so glad to learn about the fantastic research projects happening today. Hearing about them, I truly believe that this disease could be prevented.

And despite everything, research has already given us hope. Lucy decided to take the genetic test because she wanted to start a family, and knowing about the C9orf72 mutation meant she could use IVF to avoid passing it on.

My extraordinary granddaughter Evelyn was born last year. She doesn’t carry C9orf72 – the mutation has stopped with Lucy. In that way, research has already defeated MND. I know Jean would be so proud.

I’m so excited to see what researchers uncover in the years to come. One day, with our help, I know they’ll beat MND.”

John

Above: John and Jean.

Below: Jean and John with their daughter Lucy and son James, on one of their final holidays.

“MND research has had a huge impact on my life. Knowing I have the gene means I’ve made sure my daughter doesn’t carry it – and that means everything.”

Lucy (below), with her daughter Evelyn.

Your gift could help researchers get closer to beating MND.

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Motor neurones grown from stem cells in the laboratory.

Stem cells can show us what goes wrong in MND

Today, we can watch how C9orf72 affects motor neurones in action – which could point us to a cure.

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“By studying lab-grown motor neurones, I’m investigating how they’re damaged by the faulty C9orf72 gene.”

“Some people carrying the faulty gene get to 60 or 70 before they develop MND – that means they can tolerate the mutation for years. Our project is trying to discover how, because it could be the key to a therapy.

We’re taking stem cells from people with C9orf72 and observing the damage the mutation causes under the microscope. We’ve also managed to ‘cut out’ the faulty gene using gene editing technology – giving us, in theory, a way to treat this form of MND.

Our ultimate goal is finding a way to prevent C9orf72 from having an effect. But the equipment and materials we need to work with stem cells are incredibly expensive. With the generosity of people like you, we can make faster progress.”

Professor Kevin Talbot, University of Oxford

“Most genetic disorders alter how genes function, but the mutated C9orf72 gene is different. We already know it produces tiny protein molecules which aren’t normally found in motor neurones. These proteins cause MND, and our project aims to find out how.

We’re using a radical new approach, combining mathematical models with the data we have on the human genome to work out what these proteins do to cells.

Hopefully, our project will unveil how MND develops, showing us what we can target with new treatments.

Drug companies don’t tend to prioritise MND research because the disease is considered ‘too rare’. That’s why projects like ours are so important – and we depend on people like you.”

Dr Jean-Marc Gallo, King’s College London

Fixing faulty C9orf72 genes using gene technologyC9orf72 allows us to study MND in exciting new ways

C9orf72 is a vital clue to understanding MND – today’s researchers could find the missing pieces of the puzzle.

“We’re using advanced computer models of motor neurones to unravel exactly how the faulty C9orf72 gene causes MND. You can help us.”

A microscope image of a motor neurone affected by MND.

Mathematical models are helping researchers to learn more about the impact of C90rf72.

“My team uses state-of-the-art brain imaging to see how motor neurones degenerate – and we observe chemical changes in the spinal fluid of people with MND. These signs of the disease are called biomarkers.

Finding biomarkers can help us break the cycle of failed drug trials, telling us whether a new drug is working.

We’re working with Lucy and other healthy carriers of the C9orf72 mutation to try and spot the earliest signs of MND closely. This could show us how to prevent its onset.

I hope our study will, one day, give hope to families who carry the faulty gene. Your gift today could help us.”

Professor Martin Turner, University of Oxford

Using C9orf72 to find the fingerprints of MND

Finding biomarkers for MND is the foundation of developing MND treatments.

A scan showing a potential biomarker in the brain of someone with MND.

“My team is using C9orf72 to search for the earliest signs of MND, which could show us how it can be treated. But we need your help.”

“We’re searching for a way to stop the effects of C9orf72 before MND begins.”

With your help, researchers will one day beat MND. Please donate today: www.mndassociation.org/onegoal

Professor Talbot with his research team: (L-R) Chaitra Sathyaprakash, Paola Barbagallo and Ruxandra Dafinca.

Dr Jean-Marc Gallo, with his research team: (L-R) Professor Franca Fraternali and Dr Rasha Boulos.

“In the past, scientists have struggled to see what’s really happening to cells when people have MND. We’ve relied on post-mortem brain tissue, which is like studying ashes instead of the fire.

Thanks to people like you, I’m growing motor neurones from stem cells to observe what the mutated gene does. I’ve already discovered that motor neurones with the faulty gene have shorter connections with other neurones and a faulty ‘energy battery’.

I am now exploring how to fix the cells by restoring their connections and energy production. This could bring us closer to our aim to slow, stop and ultimately reverse MND.

None of this would be possible without funding.”

Dr Arpan Mehta, University of Edinburgh and Euan MacDonald Centre for MND Research

MND research has never been more exciting.

Motor Neurone Disease Association David Niven House 10–15 Notre Dame Mews Northampton NN1 2BG

www.mndassociation.org/onegoalRegistered Charity No. 294354

Researchers around the world are using C9orf72 to get closer to their goal: beating MND. Their discoveries into the inherited form of MND could hold the key to curing all forms of MND. But they can’t continue their work without you.

Please donate today – complete and return the enclosed form, call 0345 375 1850, or go online at mndassociation.org/onegoal