Professor Richard Marias, Director of the Paterson Institute Meningiomas are the commonest form of tumour affecting the brain and spine. Usually meningiomas can be removed by surgery and do not recur. Occasionally people can develop more than one meningioma or many members of the same family can be affected.
A team led by Dr Miriam Smith, Professor Gareth Evans and Dr Bill Newman worked with families with a history of meningiomas affecting the spinal cord. Using a powerful new genetic sequencing technique called next generation sequencing, they 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.
In December 2012 the government 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 is already using this technology in their 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 10 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.
"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 Dr 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."
Alison Barbuti | EurekAlert!
Closing in on advanced prostate cancer
13.12.2017 | Institute for Research in Biomedicine (IRB Barcelona)
Visualizing single molecules in whole cells with a new spin
13.12.2017 | Wyss Institute for Biologically Inspired Engineering at Harvard
MPQ scientists achieve long storage times for photonic quantum bits which break the lower bound for direct teleportation in a global quantum network.
Concerning the development of quantum memories for the realization of global quantum networks, scientists of the Quantum Dynamics Division led by Professor...
Researchers have developed a water cloaking concept based on electromagnetic forces that could eliminate an object's wake, greatly reducing its drag while...
Tiny pores at a cell's entryway act as miniature bouncers, letting in some electrically charged atoms--ions--but blocking others. Operating as exquisitely sensitive filters, these "ion channels" play a critical role in biological functions such as muscle contraction and the firing of brain cells.
To rapidly transport the right ions through the cell membrane, the tiny channels rely on a complex interplay between the ions and surrounding molecules,...
The miniaturization of the current technology of storage media is hindered by fundamental limits of quantum mechanics. A new approach consists in using so-called spin-crossover molecules as the smallest possible storage unit. Similar to normal hard drives, these special molecules can save information via their magnetic state. A research team from Kiel University has now managed to successfully place a new class of spin-crossover molecules onto a surface and to improve the molecule’s storage capacity. The storage density of conventional hard drives could therefore theoretically be increased by more than one hundred fold. The study has been published in the scientific journal Nano Letters.
Over the past few years, the building blocks of storage media have gotten ever smaller. But further miniaturization of the current technology is hindered by...
With innovative experiments, researchers at the Helmholtz-Zentrums Geesthacht and the Technical University Hamburg unravel why tiny metallic structures are extremely strong
Light-weight and simultaneously strong – porous metallic nanomaterials promise interesting applications as, for instance, for future aeroplanes with enhanced...
11.12.2017 | Event News
08.12.2017 | Event News
07.12.2017 | Event News
13.12.2017 | Health and Medicine
13.12.2017 | Physics and Astronomy
13.12.2017 | Life Sciences