Tag: Genetics

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…)

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…)

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…)