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.
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…)
Magazines 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…)
Originally published in the Imperial Magazine in June 2017, Professor Naomi Chayen explains why, when it comes to medicine, crystals may indeed have magical properties.
To grow a crystal used to be considered a kind of magic. Perhaps that’s because crystals are so beautiful: it is easy to understand why so many people are fascinated by them and believe that they bring good fortune, or have healing powers. And yes, they do have powers. Crystallise a substance – a protein, for example – and you can understand its structure. We prize diamonds for their beauty: I prize protein crystals for their potential power to unlock new treatments, in everything from cancer to diabetes. They are my diamonds.
My own involvement with crystallography was a happy accident. I was encouraged into the field by one of its great pioneers, Professor David Blow. At that time, growing a crystal was regarded as more of an art than a science. There was a sense that one had to have ‘green fingers’, like a gardener: knowing the basic components of success but also using some kind of indefinable sixth sense.
I became fascinated with them. I wanted to bring scientific fundamentals to the process and create crystallisation methods that would work all over the world, from Kathmandu to Tokyo. Of course, crystallisation is not new. In 1914, Max von Laue won a Nobel Prize for his discovery that X-rays could be diffracted by crystals, making it possible to work out their structure. In those early days, there was a great rush to crystallise as many things as possible. Any substances that were simple to crystallise, were crystallised. (more…)
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…)