North Staffs Scientists Seek Cure for ‘Silent Killer’ Heart Defect Affecting 620,000 Brits

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North Staffordshire researchers have been awarded £20,000 to help cure a heart defect that causes thousands of sudden deaths each year.

The experts hope to understand and control arrhythmogenic right ventricular cardiomyopathy (ARVC) – a condition that affects around 620,000 people in the UK and causes up to five per cent of young adult deaths.

Sufferers often fail to notice any symptoms, which can mean they do not know they have the genetic disease until it is too late.

While ARVC cannot be prevented, group leader Dr Vinoj George believes it could be controlled in the early stages through genetic engineering to stop it becoming lethal.

His pioneering study will receive the funds from local charity the North Staffordshire Medical Institute.

Dr George said: “This disease manifests with different severity. In some patients even a little bit of stress can trigger it, often resulting in sudden cardiac death.

“There are other people who live perfectly well with it and it can be controlled by drugs or devices that can be put in to maintain heart rate.”

He explained that ARVC is caused by a genetic mutation affecting the cell protein that ‘glues’ the heart muscles together. This leads to the death of cardiac cells, stopping the heart from pumping properly and causing an irregular heartbeat.

The same problem gene can manifest with different severities.

Genetic Engineering

Dr George’s team, based at Keele University’s Institute for Science and Technology in Medicine (ISTM), will create the ARVC mutation in human stem cells in the laboratory, before converting them into cardiac muscle cells.

They will then use optogenetic technology – which uses light to change the behaviour of mutated cells – to look for the genetic triggers that make the disease more severe.

He said: “We’re taking stem cells, we’re creating the protein mutation in the cell and then we’re making the cell behave like it would in the heart. Then what we’re doing is trying to use genetics to control how the disease can be reproduced and modified at the cellular level.

“Once we identify the genes that are responsible, then it will help us to find drugs or strategies to control that mechanism.”

Patients are usually diagnosed with ARVC on the basis of their symptoms, but the underlying genetic cause can only be confirmed by a test in a specialist clinic. This is often reserved for severe cases and the relatives of known sufferers, who have a 50 per cent chance of passing the disease on to their children.

Dr George’s study will use genetic data provided by St George’s Hospital in London, which treats a range of ARVC patients with various mutations and severities.

He added: “We hope to translate our work to benefit clinicians at the Royal Stoke Hospital in devising treatment strategies to control ARVC severities, potentially at a younger age.”

NSMI Funding

The grant was allocated as part of the NSMI’s annual awards, which are funded by a combination of public donations, bequests and the income from conferences and room hire facilities at the charity’s base on Hartshill Road, Stoke.

Once Britain’s first postgraduate centre, the iconic building is now used as a conference facility.

While the annual funding has now all been allocated, researchers will soon be able to apply for the Institute and UHNM’s Firelighter Awards of up to £10,000.

For more information, visit, like us on Facebook or follow us on Twitter. Anyone interested in making a bequest is asked to email manager Jacqui Robinson at

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Heart surgery safer thanks to £250,000 North Staffs research project

Research , Wade Conference Centre

By Meg Jorsh

North Staffordshire scientists are making heart surgery safer with a groundbreaking £250,000 study.

The research team, led by Professor Mamas Mamas, hopes to revolutionise the way patient health records are used by the NHS to prevent complications after coronary stent procedures.

Patients often have a stent – a short wire-mesh tube – inserted to treat angina or following a heart attack. It works by stretching open a narrowed or blocked artery.

Although a common procedure, it carries a small risk of complications ranging from bruising to heart attacks, strokes and even death.

Prof. Mamas and his team hope to cut this risk even further by analysing millions of records to identify the patients who experience the best outcomes and those with greatest chance of their operation going wrong.

He explained: “It’s a programme of work and my ultimate aim is that we use this data to more efficiently in a way that provides insight for the whole patient journey rather than just the short time they’re in hospital.

“Ultimately it’s about getting the right outcomes, getting the right procedures to the patient in the safest manner.”

Using ‘big data’

The massive study, which started in 2011, was funded in part with a £249,983 grant from the North Staffordshire Medical Institute.

It involves millions of local, national and international records, which makes the data exceptionally accurate compared to an average-sized medical trial.

Prof Mamas said: “We’ve looked at the procedure to see if there is an optimal way of doing it, which may be related to drugs or how you actually perform the operation.

“The other thing that it’s told us is how commonly complications occur. If you’re looking at a rare outcome it’s very difficult to study that in a randomised trial – getting three complications in a thousand cases wouldn’t tell you very much.

“If you have half a million patients you can get a lot more information.”

The Professor of Cardiology, based at Keele University, has already used the data to give each UK doctor performing the procedure a safety rating, which is available for patients to view online.

His team now hopes to provide a longer-term picture of surgery outcomes by combining the separate records held by hospitals and community-based services.

Their research has already shown that post-operative bleeding is far more common than previously recognised – affecting around one in five patients compared to the previous statistic of one in 20.

He added: “In the past this information wasn’t collected electronically. You wouldn’t have the whole of the UK’s collected data on a particular procedure, the computers simply weren’t there.

“The challenge that still remains is comingling the data. I can tell you what are the outcomes of these procedures in hospitals, but I can’t tell you what happens after patients are discharged, because it isn’t shared across the data sets.”

The North Staffordshire Medical Institute is a charity funded by public donations that provides grants for vital medical research in the Staffordshire area.

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