Updated: Monday, 30th March 2020 @ 1:49pm

Giant leap forward made in battle to prevent spinal tumours as Manchester experts' reveal radical research

Giant leap forward made in battle to prevent spinal tumours as Manchester experts' reveal radical research

By Mancunian Matters staff

Genetic medicine experts from Manchester have made ground-breaking steps in helping to prevent and cure spine tumours after identifying a cause of inherited cancer.

Meningiomas are the commonest form of tumour affecting the brain and spine and usually do not recur after being removed by surgery.

Occasionally people can develop more than one meningioma or many members of the same family can be affected.  

Using a powerful new genetic sequencing technique called next generation sequencing, experts from the University of Manchester and Saint Mary’s Hospital were able to check all the genes of three individuals with multiple spinal meningiomas.

This lead to the identification that changes in a gene called SMARCE1 lead to spinal meningiomas in some families.  

“With our new DNA sequencing machines, we have been able to show that changes in the SMARCE1 gene are responsible for multiple spinal meningioma disease,” said the study’s lead medical scientist Dr Miriam Smith.

“Before our work, doctors did not know that inherited spinal meningiomas have a completely different cause to other tumours affecting the brain and spine.

“The next step is to develop a screening programme to assess the risk of developing spinal tumours for individuals in affected families, and to investigate possible treatments to prevent the spinal tumours from growing.”

The government recently announced a focus on genetic sequencing with an aim of sequencing the genomes (a person’s DNA) of 100,000 Britons with cancer and rare diseases in UK centres.

The voluntary sequencing of patients will lead to better testing, better drugs and above all better care for patients.

Manchester university is already using this technology in the well-established genetics department at Saint Mary’s and it is enabling doctors to ensure patients have access to the right drugs and personalised care quicker than ever before.

In the past year ten genes have been discovered using the new next generation sequencing technology in Manchester including genes for developmental problems, deafness, short stature and bladder problems that lead to kidney failure.

Professor Richard Marias, Director of Cancer Research UK's Paterson Institute at The University of Manchester, said “This research highlights the complexity of tumour diagnosis. Such detailed molecular characterisation underpins current thoughts about how meningioma and cancer will be managed in the future and is at the heart of the personalised medicine approach.”

Just over two people in every 100,000 develop meningiomas in the head and spine, with twice as many women as men diagnosed with the condition.

The team’s pioneering work was funded by The Children's Tumor Foundation, a US-based charity supporting neurofibromatosis research, and the Association for International Cancer Research, a global cancer research charity.

Picture courtesy of machine project, with thanks.

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