Our research
One Minute Insight
Professor Patrick Chinnery explains how researchers at the NIHR Cambridge BRC are trying to understand neurological conditions such as stroke and brain trauma, to create new treatments that can benefit patients.
Case Studies
A study involving researchers from the Wellcome Sanger Institute, the University of Cambridge and EMBL’s European Bioinformatics Institute (EMBL-EBI) indicates that yes, there is a link.
In this collaborative study, supported by the NIHR Cambridge BRC, researchers looked at mtDNA variants in two large-scale datasets, and found that higher levels of the amino acid N-formylmethionine (fMet) are associated with increased risk of a wide range of late-onset diseases including kidney disease and heart failure.
While further study is required, fMet seems to be a promising biomarker that could be used to better predict an individual’s risk of developing a wide range of common diseases and plan pre-emptive interventions.
This is an abridged version of the article first published on our website on 24 August 2021.
That’s what Dr Yu Wai Man and his team are hoping to find out, with their latest trial running at Addenbrooke’s and Moorfields Eye Hospital.
Leber Hereditary Optic Neuropathy (LHON) is caused by genetic mutations in the mitochondria (the “powerhouse” of cells), leading to optic nerve damage and severe loss of vision.
Focusing on people who have had LHON from one to five years, the trial will use a form of gene therapy (where a healthy version of the mutated gene is inserted into cells of the retina) in patients who have lost their vision.
The patients will then be closely monitored over two years to see if the treatment improves their eyesight.
The trial will use the latest technology in the Cambridge Clinical Vision Lab, which is supported by the NIHR Cambridge Clinical Research Facility and funded by the NIHR Cambridge BRC.
Dr Yu Wai Man, who is leading the trial, said: “Without this level of commitment for rare diseases from the NIHR, we wouldn’t be able to conduct this kind of trial to try and save people’s sight.
“Your eyes are the greatest camera you’ll ever own. We may not be able to restore normal sight 100%, but if we could improve vision enough to have a positive impact on someone’s quality of life, that is the most important thing.”
- LHON is estimated to affect at least 1 in 30,000 people in the UK, most of them young men aged 15-35.
- This is an abridged version of the article first published on our website on 1 September 2021.
MS is a chronic, degenerative auto-immune disease, where the immune system attacks the myelin (fatty protective cover) that surrounds nerve cells, causing disability.
At first, the body is able to rebuild the myelin (remyelination) but over time, the damage becomes harder to repair, causing progressive and permanent disability.
Currently, there are no treatments that can boost myelin repair in MS. Researchers in Cambridge and Edinburgh had already shown that Bexarotene targets a protein in the brain that encourages myelin repair. Encouraged by this result, a study has been set up to see whether the drug could help the brain regenerate myelin in people with MS.
Fifty patients took part in the nine-month trial, which ended in May 2019; will help researchers understand if Bexarotene has potential as an MS treatment. To stop MS we need to find treatments that repair the damage to the protective myelin coating around nerves.
Cambridge researchers supported by the NIHR Cambridge BRC are also looking at the potential of diabetes drug Metformin to promote myelin repair in patients with progressive MS. This trial is due to open in 2020.
T and B white blood cells normally attack bacteria, but in patients with MS, these white blood cells attack the nerves in the brain and spinal cord. In trials done from 1991 to 2012, researchers found that alemtuzumab stopped the immune system from attacking these nerves. As a result, patients with multiple sclerosis did not get worse, and indeed often noticed an improvement in their disability; this has never been achieved before.
Alemtuzumab was licensed in Europe in 2013 and approved by NICE in 2014. It is now been licenced in over 50 countries, and administered to tens of thousands of people with multiple sclerosis.
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