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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

  • 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…)

Making the leap from PhD to postdoc

Earlier this month, the Department of Medicine hosted its annual Rising Scientist Day at Imperial’s Hammersmith Campus. The day offered PhD students the chance to share their research both with their peers, and a more general audience. In addition to poster presentations and networking opportunities, the showcase featured talks from those who had successfully made the transition from PhD to postdoc.

Here, Drs Myrsini Kaforou, Alex Thompson and Claire Byrne recount their experiences of becoming fully-fledged early career researchers for the Imperial Medicine Blog, and share their best advice for prospective postdocs.

Myrsini Kaforou – Senior Research Fellow in Bioinformatics

I guess my journey might be quite different to that of the typical PhD student in the Department of Medicine. I started my studies in electrical and computer engineering, completed an internship at the Pasteur Institute in Paris, and then moved to London to complete an MSc course in Bioinformatics and Theoretical Systems Biology at Imperial. I had always wanted to use computational approaches to confront complex problems in biology and medicine. Therefore, I decided to pursue a PhD in Professor Michael Levin’s group in developing novel approaches for analysing large gene expression datasets to identify diagnostic signatures for tuberculosis.

While writing up my thesis, a colleague of mine forwarded me a call for post-doctoral fellowships from the Antimicrobial Resistance Collaboration at Imperial College, which I applied for successfully. My fellowship extended the work of my PhD to the bigger question of the use of host RNA diagnostics to identify bacterial infection to guide antibiotic use and tackle AMR by bridging clinical research and point-of-care assay development. I worked with Dr Pantelis Georgiou and his team in the Department of Bioengineering. At the end of this year-long post, I applied for a few different schemes and was successful in getting the Sir Henry Wellcome fellowship to work on understanding and diagnosing infectious diseases using multi-level omics data. This scheme offers recently qualified postdoctoral researchers the opportunity to start independent research careers.


How does the charity Leuka support blood cancer research at Imperial?

Leuka is a charity that supports life-saving research into the causes and treatment of leukaemia and other blood cancers.  Funding from dedicated charities such as Leuka provides an important source of support which enables high-quality research programmes here at Imperial to develop and progress.  In this post, four Imperial researchers write about the different ways in which Leuka has supported their work at the College.

Dr Nichola Cooper and Dr Andy Porter on lymphocyte mutations

Lymphocytes are immune cells designed to recognise and fight infections, as well as to seek and destroy cancer cells. In order to create the diversity required to recognise and kill all possible infections, lymphocytes undergo an elaborate diversification process involving changes to genes, such as rearrangement, mutation and selection.

Sometimes, diversification can produce lymphocytes that mistake the body’s own cells (self-cells) as invaders. To prevent such lymphocytes from killing self-cells, which would result in the immune system attacking its own healthy tissues (autoimmunity), another elaborate process has evolved that either kills these autoreactive lymphocytes, or keeps them in check through regulation.

Together these diversification and regulatory processes allow lymphocytes to distinguish between harmful infections and the body’s own vital cells, involving many different genes. Defects in these genes, called mutations, can lead to reduced immunity, autoimmunity or uncontrolled reproduction of lymphocytes resulting in cancerous immune cells (lymphoma). (more…)

Smoke and the burnout of muscles

Image: Shutterstock - SMOKE & THE BURNOUT OF MUSCLES
Smoking is a leading cause of preventable death and disease in the world. It is estimated that the society costs associated with smoking are approximately ₤12.9 billion a year, including the NHS cost of treating smoking related diseases and loss of productivity.

Chronic obstructive pulmonary disease (COPD) is one of the major diseases caused by smoking. The disease ranks third among the leading causes of death worldwide. Around 1.2 million Britons suffer from the disease (Source: British Lung Foundation). The usual clinical picture is that of a smoker with symptoms that include shortness of breath and chronic cough. The muscle lab team at the Royal Brompton Hospital’s BRU, led by Professor Michael Polkey and Dr Nicholas Hopkinson is looking at different ways to improve COPD care, and at the different mechanisms by which interventions improve patient outcomes in the disease.

Wide-ranging consequences

In recent years, it has been discovered that the negative consequences of the pulmonary disease are not just limited to within the rib cage. The wider effects of the disease on multiple body systems has a large and solid evidence base to support it. More than half of COPD patients suffer simultaneously from at least two other conditions known to often occur alongside the disease (so-called ‘comorbid’ conditions); the presence of which is commonly used as an indication of disease severity (1). The disease burden usually takes its toll on the patients’ quality of life, daily physical activities and social interactions. (more…)