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University of Cambridge
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Krabbe disease
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£148,278
Krabbe disease is a disabling condition that currently has no cure. Scientists at the University of Cambridge, led by Professor Timothy Cox, want to discover more about how the disease develops – and how they can stop its devastating progress.
Current situation
Babies with Krabbe disease have no problems at birth, but most will die within two years: they have seizures, lose sight and hearing – and suffer relentless loss of all faculties – often choking and sometimes developing an unexplained fever. The disease causes inflammation to nerve fibres in the brain and spinal cord, gradually destroying the white matter in the brain and preventing signals being sent to the nervous system. Krabbe disease is rare, affecting 1 in 100,000 births in the UK each year.
Currently, there is no cure for Krabbe disease. Research has been conducted into blood stem-cell therapy to prolong life, but this is a dangerous technique. Untreated, Krabbe disease is a painful and fatal condition. Further investigation is needed to find treatments that could help alleviate and slow down the cruel progression of this condition.
How this project will help
Finding a way to treat Krabbe disease could offer hope to families of affected children. Scientists have recently identified a process called necroptosis where the sheaths of cells that support the brain and nervous system are destroyed. Professor Cox and his team will target this process and test whether they are able to block it. Their research offers the potential to control other destructive brain conditions associated with inflammation. Understanding how white matter is injured when nerve-supporting cells die will be critical for developing curative therapy.
For the first time this will be a chance to improve the outcome for stricken patients and families in a disease where very little practical therapy exists. Treatment may be able to change the way the disease affects patients and should be relatively simple to administer because large biotechnology companies are working on other treatments for diseases where necroptosis is important. Even given alone it may show strong clinical benefit. If successful, the project would offer a huge incentive for developing treatments for many devastating conditions affecting the nervous system.
Family stories
Meet the families who have experienced this devastating disease
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