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…)
I started working with young people with attention deficit hyperactivity disorder 25 years ago. Over the years, our knowledge and understanding of ADHD has come a long way – mostly down to scientific research – taking the condition from a relatively unheard one to a household one. Too often, we associate ADHD with children, however it’s now recognised to be a lifetime condition with many undiagnosed adults continuing to experience symptoms throughout their lives, despite the abundance of international guidelines on the assessment, treatment and management of ADHD. With many young people reaching adulthood with undiagnosed ADHD, or even misdiagnosed, they will not receive the optimal treatment for their symptoms and associated problems. Unfortunately, many will not reach their potential, and for some, they feel their future is bleak.
It doesn’t have to be this way. The good news is that there are large treatment effects for ADHD interventions and one can intervene at any age. However, early intervention is key if children with ADHD are to mature into confident young adults who experience good mental wellbeing and can effectively plan and organise their lives. I’ve always believed that we should be providing early intervention programmes that work directly with the child as well as those involved in their care and education. Hence, drawing on cognitive behavioural therapy (CBT) – a technique commonly used for phobias, depression and bipolar – I developed the ‘Helping Children with ADHD’ individual treatment and ‘The STAR Detective’ group intervention to provide life skills to children, their parents/carers and others involved in their care. (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…)
Dr (John) Tregoning and Dr (Charlie) Tregoning discuss roadblocks and solutions to equality in childcare.
We have as a couple, tried and sometimes succeeded but most often failed to share parenting fairly. Drawing from our own experience and a very shallow skim read of how to books, here are what we consider to be some of the major problems to equality at home as two working parents and some possible solutions. This is not to say every parent should go back to work; do what is best for your own family, but remember to be honest with yourself about what you really want and include yourself in the ‘what is best for my family’ calculation.
What society wants
Since the introduction of split parental leave in the UK in 2015, only 1% of fathers have taken it (based on 2015/16 figures). Why is this? Societal expectations are the major barrier to equality in childcare (in 2014 – 33% of people thought mums should stay at home compared to essentially 0% who thought dads should stay home: the flipside 73% thought dads should work full time and 28% thought mums should work full time – but only after the kids go to school). Going against the societal norm is tricky and requires reserves of energy, time and self-belief that you are doing the right thing. When the right thing is also difficult and financially unrewarding these reserves can be depleted, eroding your will. (more…)