Category: National Heart and Lung Institute

Cracking the genetic code of cardiomyopathy in Egyptians

 

Over the past decade, several institutions in Egypt have been making huge scientific progress that is steadily reaching worldwide recognition. It is under these circumstances that I have been fortunate to join the Magdi Yacoub Foundation (MYF), which is recognised as one of Egypt’s most prominent charity organisations. The Aswan Heart Centre – located along the banks of the Nile in Aswan – is an integral part of MYF, offering state-of-the-art medical services for the underprivileged. It focuses on expanding the research on heart disease across the Middle East and beyond to contribute to the world’s scientific knowledge.

With the rise of precision medicine, an approach that uses clinical, molecular, cellular and genetic information to offer effective personalised treatment to patients, Imperial’s Professor Sir Magdi Yacoub emphasised the need to investigate the genetic architecture of the Egyptian population. Understanding the genetics of the disease in the local population will allow for a more accurate diagnosis, a better understanding of the disease mechanism and could potentially facilitate the development of better treatment.

The focus of my PhD project is to identify the genetic determinants of cardiomyopathy – a term which encompasses different heart diseases that often progress to heart failure. Ultimately, I will try to correlate this genetic information with the clinical phenotype of these patients. This project is a collaboration with Imperial College London under joint supervision by Dr Yasmine Aguib and Professor Sir Magdi Yacoub from MYF-Egypt and Dr Paul Barton and Dr James Ware from Imperial. (more…)

Autumn term – gone in a flash!

My name is James Moss and this is my second blog post (the first is here). I’m a Senior Teaching Fellow in the Faculty of Medicine and I focus on teaching physiology – the body and how it works – to our medical and science students. These posts will be my own thoughts and reflections, and will hopefully give you a (non-invasive) look inside my head at different times of the year.

Students’ arrival

After a long summer of tumbleweeds rolling through the foyer of the Sir Alexander Fleming Building, our Freshers arrived and second years returned, and the building regained its usual hustle and bustle. There were downsides, however: much longer queues for lunch and much more difficult to book a room at short notice! That said, the buzz is totally worth it.

Commemoration Day and my President’s Medal

October 2017 was the first year I attended the Commemoration Day, where our graduating students celebrate their enormous achievements in the Royal Albert Hall, alongside their friends and family. Seeing students that I’ve taught hear their name, smile widely and walk across the stage to shake hands with senior academic staff generated many proud moments.

This was a particularly humbling day for me because I was the recipient of a prestigious internal award (a President’s medal*) for my contribution to teaching. As such, my family and I were treated as VIPs for the day and even had a chaperone. For someone like me who is independent to a fault, this was a very weird situation)! My parents, wife and brother watched the ceremony from the Queen’s Box and were treated to great wine and food. Fortunately, when the time came to receive the award, I made it safely to my prearranged spot without tripping – the Events Team plan the day with military precision. Later, a student in the audience did send me a photo accusing me of sleeping during the kind words the Vice-Provost said about me. That definitely wasn’t the case! (more…)

The Asbestos Story: a tale of public health and politics

The Asbestos Story: a tale of public health and politics
Public awareness of the hazards of asbestos can be dated to the period immediately following the death of Nellie Kershaw aged 33 in 1924.  She had worked during the previous seven years in a textile factory spinning asbestos fibre into yarn. She died of severe fibrosis of the lungs. The pathologist, William Cooke, who found retained asbestos fibres in the lungs, called the cause of death asbestosis.  Nellie Kershaw was not the first case to be reported of lung fibrosis caused by asbestos. Montague Murray in 1899 had reported the case of a 33-year-old man who had worked for 14 years in an asbestos textile factory. He had died of fibrosis of the lungs which Montague Murray, also finding asbestos in the lungs, had attributed to inhaled asbestos fibres.  The patient had told Murray he was the only survivor from ten others who had worked in his workshop.

However, unlike the Montague Murray case, which had aroused little interest, the death of Nellie Kershaw and its cause was widely reported. It led to the government commissioning the Chief Inspector of Factories, Edward Merewether, with an engineer, Charles Price, to report on workers’ health in the asbestos industry. They found, among those still at work who had been employed for more than five years, one third had asbestosis and of those still working in the factory after 20 years, four-fifths had the disease.

The government introduced regulations in 1931 to control exposure to asbestos, together with arrangements for regular medical surveillance of the workforce and eligibility for compensation for factory workers with asbestosis. A benefit commented on by the workers in one factory was a clock on the wall becoming visible to them for the first time. (more…)

Death of a cell: the vital process of tidying up cell debris to prevent blood clots

Your cells die every day. Don’t worry, your body is protecting itself. In a process known as apoptosis or programmed cell death, cells that are no longer needed commit suicide. Some cells are only required for a short time, they may be infected by a virus or develop harmful cancerous mutations. Cell death is also an essential part of development from an embryo. For example, mouse paws begin as spade-like structures and only form the individual digits as the cells in between die. During apoptosis the cells fragment into smaller apoptotic bodies, and their cell surface is flipped open to display lipid molecules called phosphatidylserines, which act as an ‘eat me’ signal to recruit cells called macrophages to engulf them, before their contents spill out and damage the surrounding tissue. This is a process known as efferocytosis.

However cell death is not always so orderly. Some cells suffer premature death known as necrosis, where they burst open for various reasons such as infection, physical trauma or extreme temperatures. As the cell’s contents are released into the open, an inflammatory response is triggered. Studies are ongoing to establish the many mechanisms by which this process occurs. For example, it is known that proteins on the surface of immune cells, called pattern recognition receptors or PRRs, detect the material released by dying cells, and trigger the expression of genes leading to the release of inflammatory substances. When an infection occurs, the immune response is usually short-lived as it rapidly kills the infection. However, when cell necrosis and subsequent inflammation occurs over a longer period, the substances released by macrophages – that have migrated in to engulf the dying cells – can damage the surrounding tissue, resulting in a build-up of dead cells.

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Big hearts and giant genes: What lies at the end of the yellow brick road?

Upasana Tayal was shortlisted for the MRC Max Perutz Science Writing Competition 2017 for the following article:

“Hearts will never be practical until they can be made unbreakable”, said the Wizard of Oz. “But I still want one”, replied the Tin Woodsman.

Your heart makes you human, makes you love, and keeps you alive. In just one year, it will beat 40 million times, without rest or time off for good behaviour. A pretty impressive piece of machinery you might agree, no wonder the Tin Man wanted one so much.

And like many things in life, he may have wished for a big heart at the end of the yellow brick road.

He would be forgiven for imagining a big heart to be a good thing, extra caring and compassionate, and if the Tin Man was scientifically inclined, more effective at doing its job of pumping blood around the body.

Unfortunately for the 1 in 250 people in the world living life with a big heart, the reality is very different. (more…)

How COPD patients can sing their way to better health this Christmas

Carol Singers (CC BY 2.0)

Singing carols is a big part of Christmas cheer, but not many people realise that singing can also be helpful for people with lung disease. COPD is an extremely common condition – there are 1.3 million people with this diagnosis in the UK. Existing treatments help to some extent, but do not reverse the underlying pathology, meaning that even with optimal care many patients remain breathless with activity limitation and poor quality of life. This symptom burden represents a major area of unmet need. Singing for Lung Health (SLH) groups are a potential way for patients to gain skills to improve control of their breathing and posture, reducing symptom burden and enhancing wellbeing.

What is singing for lung health?

Singing for lung health involves taking part in classes led by a specially trained singing teacher. Patients learn techniques to help control their breathing and posture as part of a group activity which is fun and sociable. The goal for the groups is to get better at singing, an artistic objective. By doing this individuals gain skills that help them to cope with their lung condition, a health improvement objective. The classes have a particular focus on activities and exercises that are helpful for people with lung disease and so differ from more generic “singing for well-being” groups.

Singing for lung health has grown from a few small clinical trials to more than 80 groups nationally. As well as the plausibility of an approach based on learning to control the breath in people with lung disease, singing is also a fun social activity. Results from the Royal College of Physicians COPD audit show that provision of pulmonary rehabilitation is still limited, so there is a need for activities to sustain the physical and social benefits that these produce once people have completed them. For some people, taking part in a singing group may be a useful stepping stone to agreeing to join a formal rehabilitation program. (more…)

“Don’t you just get the summer off?”

“Don’t you just get the summer off?” – James Moss
Not quite a million-dollar question, but one I am often asked by students I bump into over the summer months, who seem perplexed to see me on College premises. “But there’s no teaching” they’ll say, which is a fair and accurate statement. My job title is Teaching Fellow, which means I’m employed to design and deliver teaching sessions for our students. Fortunately for me, variety is the spice of life, and there are lots of different ways I spend my time.

Exam marking

This summer I marked way over ten thousand marks worth of questions across five different exams, which is almost 37.5 hours in itself (technically a full week of work!), and these papers get turned around – marked, double-marked and ratified – within ten days in time for the exam board (a meeting with senior teaching staff and external examiners).

Research

This summer I’m working on different research projects, along with all of the other things. Several of these are collaborations with undergraduate students on medical education projects (like evaluating new teaching methods or software to support learning), which is an exciting way to work and provides students with a unique experience (and hopefully a taste of research that can inspire them in the future). (more…)

Lung volume reduction – new hopes and missed opportunities in COPD


COPD, chronic obstructive pulmonary disease, has traditionally been thought of as an irreversible and somewhat hopeless condition. Many patients with COPD may be missing out on the possibility for a dramatic improvement in their condition. They deserve better.

COPD, is a common and important condition. There are 1.3 million people with a diagnosis of COPD in the UK and it’s now the third leading cause of death worldwide. The main symptoms are breathlessness, cough and sputum production.

The term COPD encompasses a range of pathological processes, usually caused by smoking or inhaling other noxious materials. It includes chronic bronchitis – inflammation and damage to airways as well as emphysema – destruction of the lung tissue itself and damage to the blood vessels in the lung. In emphysema the walls of the alveoli (air sacs) break down. The lung tissue loses its elasticity and becomes baggy, and air gets trapped in the lungs making breathing uncomfortable. In some people the condition is caused by alpha one antitrypsin (A1AT) deficiency; the inherited lack of a defensive enzyme, which makes their lungs much more vulnerable.

There are treatments including inhaled medication, pulmonary rehabilitation and flu vaccination, and for people who continue to smoke, smoking cessation is the most effective. Despite the best standard care the condition is progressive and conventional treatments cannot so far reverse the underlying process. (more…)

Understanding our achy breaky hearts

Broken heart syndrome, officially known as takotsubo syndrome, is an acute type of heart failure, where the bottom of the heart stops beating in situations of extreme stress. A condition predominantly affecting post-menopausal women, it has been dubbed broken heart syndrome owing to the frequent occurrence during bereavement after the loss of a loved one. However, this is just one example of the various circumstances in which takotsubo syndrome can occur. Indeed, any stressful event can lead to a surge in adrenaline which can result in takotsubo syndrome. This could be physical or emotional, and includes trauma such as car accidents, drug abuse, and even happy events such as weddings!

This varied list of triggers and the association with a ‘broken heart’ has attracted interest from the media. Furthermore, the specific localisation of the poorly contracting region of the heart and patient demographics are also very interesting from a research standpoint. Often when describing my PhD, the concept of a ‘broken heart’ understandably resonates with people. (more…)

Vaccines are vital


Originally published on the MRC Insight blog and reproduced under CC BY 4.0, here Peter Openshaw, Professor of Experimental Medicine at Imperial and President of the British Society for Immunology, says we cannot afford to be complacent about vaccines.

As a clinician working in research, I want to improve peoples’ health. The NHS was set up to focus on treating people with disease. But how much better would it be if we could prevent people from getting sick in the first place?

This is where vaccines come in. As vaccinologists, we use our scientific knowledge to design new or improved vaccines to stimulate the immune system. This creates natural protection against infections and prevents disease.

New and improved vaccines

The current vaccines we have are excellent and safe but many could be better. There are also new ways to use vaccines and lots of diseases which do not yet have effective vaccines.

The science of vaccinology advances monthly. There are hundreds of new vaccines at different stages of testing, many of which could lead to improved human health and wellbeing. In response to this fast-changing landscape, the MRC and BBSRC have recently funded five collaborative networks to drive UK vaccinology forward for the benefit of global health. (more…)