Tag: Genetics

Alzheimer’s disease: why your genes aren’t always your destiny

For Dementia Action Week, Kitty Murphy, second year PhD student at the UK DRI Centre at Imperial, shares the complex nature of Alzheimer’s disease and why there’s more to it than just our genes.

Dementia diagnosis rates are dropping for the first time ever. I wish I could tell you that this is due to less people developing dementia, and not because more people are living with it undiagnosed. According to research carried out by Alzheimer’s Society, many people are not being diagnosed due to the misconception that memory loss is a normal part of aging. However, memory loss is often an early sign of dementia, particularly in the most common cause known as Alzheimer’s disease. As a result, the Alzheimer’s Society’s Dementia Action Week, an annual awareness campaign, has made diagnosis their featured theme.

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Painting pictures of genomes

Dr Peter Sarkies explains how network-based visualisation has revealed new insights into a genome feature known as a transposable element.

When we think of a scientific discovery, we typically imagine a “eureka” moment, in which someone in a white coat glimpses the result of an experiment and in one stroke, solves one of life’s major questions. However, it is important to realise that a key aspect of scientific progress involves the development of new tools that help make previously insoluble research questions accessible. One important example of this is tools that help scientists to see better. We’re all familiar with many of these tools and how they were instrumental in biology – from the microscope that enabled cells to be seen for the first time, through to more recent tools such as electron microscopy that made visible the fine inner structure of the cell, and X-ray crystallography enabling scientists to work out the position of each atom in a protein. What might be a little less obvious is how important more abstract modes of visualisation can be in helping scientists to make progress in understanding research questions. (more…)

Exploring the evolutionary treadmill of genome defence

Dr Peter Sarkies looks at how evolution can quickly come up with new mechanisms to fight infection by adapting existing processes rather than inventing new ones.

It’s January and perhaps you’ve been hitting the treadmill in the gym in an enthusiastic bid to make good that New Year’s resolution to do more exercise.  To a primitive human, it’s hard to imagine a more ridiculous contraption – expending huge amounts of energy simply to stay in exactly the same place; but remarkably, this feature of a treadmill is very similar to some aspects of evolution.

The examples of evolution that are most familiar to people involve organisms adapting to their environment, with the long neck of the giraffe perfectly suited to reaching the best leaves as a famous example.  Probably the most active type of evolution by natural selection occurs in response to conflicts between organisms.  A good example of this is the response of species, like humans, to infection by pathogens like bacteria and viruses. Humans are engaged in a constant race to evolve new mechanisms to fight infection, because the pathogens themselves are able to rapidly adapt to become resistant to each new strategy that the host comes up with.

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Why curing breast cancer isn’t a piece of cake

This Breast Cancer Awareness Month, Dr Luca Magnani unravels the complexity of cancer research, from recent advances in genomics to the power of patients in research. 

In today’s fast-paced world in which everything quickly rotates, spins loudly for your clicks and sights, deciding where to focus our attention is a decisive factor. When trends come and go at lightning pace, it is somewhat surprising that October is still Breast Cancer Awareness Month. I’m glad we can still manage to stop and reflect on what this means. Last year we discussed how Breast Cancer Awareness Month has evolved in the era of social media and marketing. This year I thought we could be more optimistic and discuss when October becomes ‘tea and crumpet’ appreciation month. (more…)

Rare diseases: the hidden priority of scientific research

For Rare Disease Day, Professors Uta Griesenbach and Eric Alton tell us why rare diseases are 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: (more…)

Cracking the genetic code of cardiomyopathy in Egyptians

In the post, PhD student Mona Allouba, calls for a better understanding of the genetics of Egyptians in a bid for personalised treatments for cardiomyopathy patients

Over the past decade, several institutions in Egypt have been making huge scientific progress that is steadily reaching worldwide recognition. It is under these circumstances that I have been fortunate to join the Magdi Yacoub Foundation (MYF), which is recognised as one of Egypt’s most prominent charity organisations. The Aswan Heart Centre – located along the banks of the Nile in Aswan – is an integral part of MYF, offering state-of-the-art medical services for the underprivileged. It focuses on expanding the research on heart disease across the Middle East and beyond to contribute to the world’s scientific knowledge. (more…)

World Osteoporosis Day: love your bones!

For World Osteoporosis Day, Dr Victoria Leitch provides an insight into how her research in osteoporosis is working towards new treatments for this common condition. 

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

PhD student Philippa May reflects on being a scientist in the field blood cancer, from working in a leukaemia diagnostic laboratory to a research laboratory. 

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. (more…)

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

In this post, four Imperial researchers write about the different ways in which Leuka has supported their work at the College.

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. (more…)