Tag: Research

Rare diseases: 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:

  • 7% of the population, will be affected by a rare disease at some point in their lives, which translates to 3.5 million people in the UK
  • There are between 6,000 and 8,000 known rare diseases and around five new rare diseases are described in the medical literature each week
  • 80% of rare diseases have a genetic component and are often life-threatening
  • 75% of rare diseases affect children
  • Drug development and research into rare diseases can also help improve treatment for more common diseases

In 2012, the UK Government initiated the 100,000 Genome Project with a particular focus on rare diseases (and cancer). Knowledge gained from this project is already helping to make new diagnoses, thereby aiding the development of new treatments.

An important milestone for patients with rare diseases was the publication of The UK Strategy for Rare Diseases in 2013 which postulates 51 commitments that have to be implemented by 2020. Ranking very high is the urgent need for getting the correct diagnosis. Around four in every 10 patients say they found it difficult to get a correct diagnosis and find suitable support groups. Clearly, the 100,000 Genome Project is an important step in that direction. In addition, and complementary to this, the National Institute for Health Research (NIHR) has invested considerable funding into understanding the characteristics of patients with rare diseases. Finally, multiple pharmaceutical companies are investing strongly in this area. (more…)

Encephalitis: the rare disease with a million implications


22 February is World Encephalitis Day. Founded by The Encephalitis Society four years ago, it aims to help raise awareness of the disease on an international scale.

In a nutshell, encephalitis refers to the inflammation of the brain. Up until recently, it was thought that encephalitis was simply either a viral or bacterial infection. However, in 2005, research described a new version of the disease: auto-immune or ‘anti-NMDAR encephalitis’, which is caused by antibodies that attack the brain tissue. In all its forms, encephalitis is incredibly rare: herpes simplex encephalitis (HSE), for instance, affects approximately one in 1,000,000 children. Although there are clear treatment routes available, viral encephalitis is incredibly destructive. The virus can cause irreversible damage in the brain, which will continue to impact upon a patient’s quality of life well after their short-term recovery from the disease itself.

Despite its often devastating consequences, the rarity of encephalitis might raise some important questions for those hearing about the disease for the first time, namely: why should we spend our time researching something that affects so few people?

It’s crucial to acknowledge that just because something is rare, it doesn’t mean that it’s not important. I started working on herpes simplex encephalitis during my time as a postdoc, because it’s an incredibly useful paradigm for studying genetic disorders, and human genetics in general. Looking at cases of encephalitis can also tell us so much about human immune responses to infection. By investigating what has gone wrong in the body in these rare cases of encephalitis, we also learn more about which immune responses are essential to fighting diseases in the average person. Not only does our research into encephalitis allow us to better combat the disease itself, it also give us insights into the mechanisms at work in our body that help to protect the brain from infection and inflammation. We’re beginning to see that our findings have far-reaching implications for other neurological disorders that may be linked to encephalitis via a crossover of immune mechanisms.

With the relatively recent discovery of anti-NMDAR encephalitis, the field of autoimmune encephalitis has blossomed. Although my primary research is rooted in the viral, infectious type of the disease, we’re beginning to investigate its relationship to this newer form. I’m now working with Dr Ming Lim at the Evelina’s Children Hospital at King’s College London, and Dr Yael Hacohen at the Great Ormond Street Institute of Child Health at UCL, to try and pinpoint whether there is a link between the two. More specifically, I’m interested in finding out if suffering from HSE means that a patient is more predisposed to developing autoimmune encephalitis further down the line. (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.


How a little Mo effort can make a big difference

It’s that time of the year again, when men grow moustaches around the globe. It all started in 2003, when two guys in Australia had the idea to make moustache-growing fashionable again. For a greater cause, they made this campaign about men’s health and established the Movember Foundation. As you may know, the campaign became an international phenomenon, attracting over 300,000 participants in more than 20 countries in 2016.

The Movember Foundation is now a global charity with one mission: “Stop men dying too young”. To achieve this, they are raising awareness and funds for three issues affecting men’s health; prostate cancer, testicular cancer and mental health. Here in the UK, the Movember Foundation has been working together with Prostate Cancer UK – the only charity that exists solely for prostate cancer – investing over £21 million in prostate cancer research between 2012 and 2015.

The prostate is a male-specific organ that sits just beneath the bladder and surrounds the urethra – this location is the reason so many symptoms of prostate disease affect the ability to urinate. Prostate cancer occurs when cells in the prostate grow and divide out of control. In the UK, prostate cancer is the most common cancer amongst men and expected to affect 1 in 8 men during their lifetime. The word ‘cancer’ sounds frightening, but it needn’t be for all cases of prostate cancer. When diagnosed at the earliest stage, virtually all men survive beyond 5 years. However, when diagnosed at the latest stage (advanced prostate cancer) only 30% of men survive beyond 5 years, indicating early detection is key. (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…)

World Osteoporosis Day: love your bones!

As a young girl I spent many long afternoons in piano lessons.

Years later, I remember very little from the lessons – but I do vividly remember the teacher. She was very strict, had hair like candy floss and a severe hunch. She always made the lessons run long, but she would give me a chocolate bar if I helped her hang out her washing afterwards. She needed my help because she couldn’t reach the washing line anymore. One day I asked my mum why she had a hunched back and she told me it was because she had osteoporosis. At the time I didn’t really comprehend what that meant, but I knew it wasn’t good. One day she fell and broke her hip, and sadly, not long after that she passed away.  As you read my story, I am sure it sounds familiar to a lot of you. Maybe not with a piano teacher, but with a relative, family friend or neighbour. The reason I say that is due to the rising prevalence of osteoporosis – one in three women and one in five men over the age of 50 are affected. (more…)

One small step in wearable tech: one giant leap in osteoarthritis detection and management

When deciding what to do in life, it was clear that I wanted to help people live better, however becoming a doctor wasn’t for me. I found my way through studying biomedical engineering, which developed my passion for the biomechanics of human movement. I see this as a means to understanding the underlying mechanisms of musculoskeletal disease. Through detailed assessment of patients’ movement function we can understand the implications of disease progression and propose solutions to mitigate the developing disorders. To a curious mind like mine, this is a fascinating way to achieve my aspirations. The idea of being able to find explanations as to why things happen to our bodies is amazing and the fact that it can improve people’s quality of life makes it all the more satisfying.

Debilitating disease

I joined Imperial as a research associate in the Musculoskeletal Medical Engineering Centre. As a postdoc researcher in the centre, my goals are to tackle ways that could improve symptoms as well as gain a better understanding of knee osteoarthritis development. Osteoarthritis (OA) – the most common form of joint disease – is a disabling musculoskeletal disorder that can affect our joint function. OA progression is slow and if measures are not taken, joint replacement will eventually be necessary. Joint replacements are costly, invasive and have a limited lifespan that may not last for the duration of patients’ lifetime. Moreover, patients’ satisfaction after surgery is poor, calling for early management strategies. (more…)

World Heart Day: Building new hearts at the BHF Regenerative Medicine Centre

We are excited by the news that our BHF Regenerative Medicine Centre has been renewed for another four-year term from 1 October 2017! At Imperial we have been concentrating on the big challenge of producing new muscle for the damaged heart, along with our partners in the Universities of Nottingham, Glasgow, Hamburg and Westminster.

The heart has a very limited capacity to repair itself after a heart attack, or during the more insidious damage from high blood pressure, diabetes or chemotherapy. We have been looking at various kinds of stem cells to explore their power to become new cardiac muscle cells – one of the big successes of the current Centre. Pluripotent stem cells – those which have the capability of turning into any cell type in the body – can now be turned very efficiently into beating heart muscle in the laboratory dish, and made into strips of engineered heart tissue. Our partner, Professor Chris Denning, at the University of Nottingham has automated the process of making the cells and Professor Thomas Eschenhagen in Hamburg has contributed his technology for converting this into muscle. (more…)

Blood Cancer Awareness Month: all roads lead to EVI1

For the last 10 years I have been a clinical scientist in genetics working across various London NHS Trusts. Whilst I loved diagnostics, last year I left my job to complete my PhD. I worked in a part of life sciences called cytogenetics. This meant when a patient was diagnosed with blood cancer, I would analyse their chromosomes – the structures into which DNA is organised – from their blood or bone marrow to look for specific abnormalities. For some patients, this can lead to a definitive diagnosis. For others a refined prognosis, and in some, it’s simply a way of monitoring how well the patient’s leukaemia is responding to their treatment.

Histopathology of chronic myeloid leukaemia

Blood cancer can be very straightforward to diagnose and it was perfectly possible to provide genetic confirmation of a blood cancer diagnosis in a matter of hours. For example, in patients with chronic myeloid leukaemia (CML), I would find a particular abnormality called a Philadelphia translocation between chromosomes 9 and 22. Finding this translocation means a patient will benefit from a targeted therapy – called a tyrosine kinase inhibitor (TKI) – which reverses the effect of the translocation with relatively few side effects. TKIs are a tablet taken once or twice a day at home. Compared to chemotherapy, TKIs have revolutionised the treatment and outcomes of CML, which has been life-changing for CML patients. It was always satisfying to call the referring clinician and let them know their patient had a Philadelphia translocation because I knew that would set the wheels in motion for a TKI to be prescribed. Ultimately I knew I had made a difference to a patient on those days. (more…)

Weighing up dodgy diets

Weighing up dodgy dietsMagazines and newspapers are full of so-called ‘tips’ or ‘advice’ for the image conscious, detailing extreme diets followed by the rich and famous to achieve dramatic weight loss, or new diets apparently supported by the latest scientific research. One example is the gluten-free diet, made fashionable particularly in the sporting world by former world number one tennis player Novak Djokovic (1). Having had a reputation for being physically weaker than his rivals, Djokovic was eventually diagnosed with coeliac disease and the resulting gluten intolerance. Eliminating gluten from his diet transformed his career.

Many have since adopted the gluten-free diet with the hope of boosting their own energy levels, but have had mixed results. Recent studies show that being ‘gluten-intolerant’ is hardly a medical condition that can be diagnosed and scientists have struggled to establish a mechanism for supposed gluten intolerance. So unless you suffer from coeliac disease triggered by gluten, following a gluten-free diet could do more harm than good, as gluten-free foods are often low in fibre and key nutrients, and high in sugar. (more…)