For Rare Disease Day, Professors Uta Griesenbach and Eric Alton tell us why rare diseases are the hidden priority of scientific research.
A rare disease, also known as an orphan disease, affects by definition less than five in 10,000 (or 0.05%) of the general population.
Hence the question arises: why a disease as rare as 0.05% of the population presents a good investment of research funding? We think the answer is simple and importantly the math adds up. Here are some facts, based on raredisease.org.uk: (more…)
In the post, PhD student Mona Allouba, calls for a better understanding of the genetics of Egyptians in a bid for personalised treatments for cardiomyopathy patients
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. (more…)
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.
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. (more…)
An eye-opening account by Professor Sir Tony Newman Taylor on how asbestos has gone from ‘magic mineral’ to deadly dust that can cause mesothelioma.
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. (more…)
In this post, Dr Anusha Seneviratne breaks down the conundrum of cell death and how this process protects our bodies from 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. (more…)
Upasana Tayal was shortlisted for the MRC Max Perutz Science Writing Competition 2017 for the following article on her research into a heartbreaking disease called dilated cardiomyopathy.
“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. (more…)
Carol Singers (CC BY 2.0)
In this post, Dr Nicholas Hopkinson looks at the benefits of singing for people with respiratory conditions such as COPD.
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. (more…)
James Moss, a Teaching Fellow, provides an insight into his role, from exam marking to supporting research projects.
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. (more…)
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. (more…)
PhD student Liam Couch unravels the science behind breaking heart syndrome and explains how his research is helping to understand the unknowns of this condition.
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! (more…)