Supporting Genetic Disease Research
By supporting this appeal, you’ll help raise £200,000 for a new Bioreactor. This incredible equipment will produce special gene therapy treatments for people with genetic diseases.
There is nothing more frustrating than being completely helpless in your pursuit of health for your child. We never in a million years thought a project focused around COL4A1 would occur in this lifetime.”
Mother of Brooks Ward who suffers from rare genetic disease COL4A1
How you can make a difference
Your kindness today will:
- Offer hope to a young child suffering from a rare genetic disease such as COL4A1 or Hereditary Spastic Paraplegia
- Help slow the effects of devastating conditions like MND and frontotemporal dementia
- Unlock further research for even more conditions like age-related hearing loss
What is gene therapy?
Sheffield’s scientists have discovered a way to treat many different genetic diseases using ‘viral vectors’. By stripping away the harmful properties of a virus, they can deliver a ‘therapeutic gene’ into a patient’s cells. This treatment can replace or switch off a faulty gene that’s damaging tissue in the body. Alleviating or even reversing the impact of genetic diseases.
We’re proud that Sheffield is at the heart of gene therapy. Our pioneering new Gene Therapy Innovation and Manufacturing Centre (GTIMC) is funded by the UK Medical Research Council. A leading player in this field, the University of Sheffield has been specially chosen as one of only three gene therapy hubs in the country.
Your compassion today will give the UK’s leading researchers the technology they need. Accelerating research from the lab and into clinical trials with patients.
Your support will help treat the incurable.
Finally, there's some hope for families with inherited forms of MND and dementia. And for those suffering from rare genetic diseases.
Imagine hearing your newborn baby has a rare and life-threatening disease. Or how hard it would be to see a family member struggle with dementia. And then getting the dreaded diagnosis yourself.
On their own, rare genetic diseases are uncommon. But together they’re estimated to affect almost 10% of the population. For so long, treatment has seemed impossible and research has lagged behind.
For more common conditions like age-related hearing loss, it's a similar story. There's currently no way of stopping this genetic disorder, which by 2050 could affect almost 1 billion people. Gene therapy may hold the answer.
- What is genetic disease research?
Researchers at Sheffield are aiming to uncover the mysteries of disease and develop gene therapy treatments for previously incurable conditions. But what is a genetic disease? And how will research help to treat those living with a genetic disease?
- COL4A1 - Brooks’ story
Brooks Ward, aged two, was diagnosed with COL4A1 shortly after birth. This rare genetic disease causes ‘fragile’ blood vessels and has affected Brooks’ heart, brain and vision. As well as causing him constant, painful spasms and a weakened immune system.
Brooks’ parents, Blair and Dustin, will stop at nothing to find a way of helping their son and all those affected by genetic diseases.
- SPG47 - Robbie’s story
Robbie Edwards, aged eight, was diagnosed with SPG47 when she was just a toddler. This genetic disease slowly degenerates the muscles and can cause developmental delays and epilepsy. Desperate for a treatment, Robbie’s family met with Professor Mimoun Azzouz from the University of Sheffield. His research has the potential to treat SPG47 through gene therapy.
There is finally a spark of hope, which fuels the Edwards family to this day.
- Spinal Muscular Atrophy - a success story
Every year around 100 babies are born in the UK with Spinal Muscular Atrophy (SMA). This neuromuscular disease is one of the most common genetic causes of death in childhood. And without treatment, it causes unbelievable heartache for parents and families.
However, the discovery of a pioneering treatment for the condition is now saving lives. And this incredible story is proof of what revolutionary gene therapy can do.
- Age-related hearing loss
Age-related hearing loss, otherwise known as Presbycusis, is the most common sensory disorder. It is estimated that by 2050, it will affect almost one billion people.
Walter Marcotti, a Professor of Sensory Neuroscience at the University of Sheffield, describes the process of age-related hearing loss.
He says: “We lose sensory cells that detect sound, without which there is no sound processing. If you lose a portion of these cells but you are quick enough to implement cochlear implants, then you can still preserve some of the ear.
But the problem with age-related hearing loss is that you lose not only the sensory cells but also the fibre that goes from the ear to the brain. Even if you shout in someone’s ear or implement a hearing device there is nothing that can move the sound from the ear to the brain. And that is one of the major issues that we have with aged related hearing loss.”
Aged related hearing loss causes elderly people to feel isolated as they struggle to socialise with others.
This can lead to conditions such as depression, and research shows there is a link between age-related hearing loss and neurodegenerative conditions such as Alzheimer’s.
Currently, there is no cure for age-related hearing loss as Professor Marcotti explains: “When you go to the hospital and they diagnose you with age related hearing loss, it is already too late, because the equipment currently used in the ENT clinic is not sophisticated enough to detect the early signs of age-related hearing loss.”
However, there is hope that with further research, Age-related hearing loss can be delayed or even prevented.
The construction of the Gene Therapy Innovation and Manufacturing Centre (GTIMC) in Sheffield and bioreactor appeal will allow scientists to translate their research and apply it to humans.
If one day a treatment to prevent or delay age-related hearing loss were to be found, there is no doubt the treatment would be life-changing for millions of people across the world.
Support Genetic Disease Research
Help bring life-changing treatments to people with devastating conditions