Search Results for: gene mutations

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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News worth celebrating for the cystic fibrosis community

Professor Jane Davies reflects on the positive news for those affected by cystic fibrosis on both sides of the Atlantic – access to Orkambi on the NHS and FDA Approval of ‘triple combination’ in the US.

Last week marked a milestone for people living with cystic fibrosis (CF) in the UK after NHS England announced that new drugs – Orkambi and Symkevi – will be made available on the NHS after securing a deal with the drug manufacturers, Vertex. After four years of community and patient organisation campaigns, I am delighted with this outcome which will be transformative for young people with CF.

There are over 10,000 people in the UK and over 100,000 worldwide estimated to be living with cystic fibrosis (CF). The condition is caused by a faulty gene encoding for a cell surface ion channel called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Ion channels are integral for regulating salt and water transport across mucosal surfaces, particularly in the lungs for defence against infections and in the digestive system. People with CF have a shorter life expectancy than healthy people and a hugely burdensome treatment regime just to keep as well as possible. (more…)

Challenges in motor neurone disease: from ice buckets to new therapeutic targets

Challenges in Motor Neurone Disease: from ice buckets to new therapeutic targets

On MND Global Awareness Day, Professor Jackie de Belleroche looks at how increased awareness and collaboration, alongside advances in genetic and molecular research, offers hope for the future.

Without doubt, the last few years have seen phenomenal developments not only in research, but also in public awareness of just how devastating a condition motor neurone disease (MND) is. There is hardly anyone who has not heard of MND thanks to Professor Stephen Hawking, well-known to the public as an outstanding scientist who was diagnosed with the condition at the age of 21. The ALS “ice bucket challenge” certainly caught the imagination of the international community too, as well as raising £88m in a single month for MND research across the world (it’s important to note here that MND is usually referred to as amyotrophic lateral sclerosis [ALS] outside the UK). (more…)

Von Willebrand disease – hidden in plain sight

Dr Tom McKinnon

Every year on 17 April, World Haemophilia Day is recognised worldwide to raise awareness of haemophilia, von Willebrand Disease, and other inherited bleeding disorders. From his early days in lecture halls to his current work in research labs, Dr. Tom McKinnon, Senior Lecturer in the Department of Immunology and Inflammation, shares his expertise. He unravels the complexities of Von Willebrand factor (VWF), advocating for greater awareness of this commonly misunderstood condition. 

I can vividly recall an early morning undergraduate lecture I attended over 20 years ago now (has it really been that long?!). In a slightly hungover state, I listened to the lecturer describe a protein that helps blood cells stick together (clot) when you bleed called Von Willebrand Factor and Von Willebrand’s disease – a common inherited condition that can make you bleed more easily than normal. At the time, I didn’t think much about it, but two years and a BSc later, I found myself at Imperial undertaking a PhD investigating the structure and function of VWF, beginning my scientific journey into the world of the largest protein found in the blood, and in my humble opinion, the most fascinating.  

Circulating around the body, VWF is like a giant molecular ball of string that responds to the force of blood flow. When we damage our blood vessels, this ball of string sticks to the damage site, and unwinds and begins to capture platelets that are speeding past, thereby limiting blood loss.  

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What is the new coronavirus (2019-nCoV) and what do we know about the outbreak so far?

This post was last updated on 31 January 2020

What is the ‘Wuhan coronavirus (2019-nCoV)’ and what do we know about it so far?
Dr John Tregoning (JT) from Imperial’s Department of Infectious Disease spoke to the School of Public Health’s Prof Steven Riley (SR) about the coronavirus outbreak that recently began in Wuhan, China.

Who has been working on the outbreak epidemiology at Imperial College London?

SR: I work as part of the MRC Centre for Global Infectious Disease  Analysis and the Abdul Latif Jameel Institute for Disease and Emergency Analytics centre with Prof Neil Ferguson, Dr Natsuko Imai, Dr Ilaria Dorigatti, Dr Anne Cori Prof Christl Donnelly, Prof Azra Ghani and Dr Marc Baguelin.

So what is this new coronavirus?

SR: It is a viral infection that was first discovered in the Chinese city of Wuhan in 2019 that has been associated with a number of cases of pneumonia – an infection of the tissue in the lungs. You might see it being called ‘2019-nCoV’, which stand for novel (or new) coronavirus. More information has been provided by the World Health Organisation. (more…)

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…)

Change of heart: will advanced therapeutics replace heart transplants?

To mark the 50th anniversary of the first UK heart transplant, Professor Sian Harding looks at the future of transplantation in this post. 

Fifty years ago, history was made at the National Heart Hospital in London with the first heart transplant performed in the UK. Half a century later, transplantation continues to the be the gold standard treatment for a failing heart. However, the growing number of people on the waiting list for a new heart, coupled with the risky and complex nature of the procedure is resulting in scientists exploring alternatives to transplantation. One of these alternatives is gene therapy. (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…)

Death of a cell: the vital process of tidying up cell debris to prevent blood clots

In this post, Dr Anusha Seneviratne breaks down the conundrum of cell death and how this process protects our bodies from blood clots.

Your cells die every day. Don’t worry, your body is protecting itself. In a process known as apoptosis or programmed cell death, cells that are no longer needed commit suicide. Some cells are only required for a short time, they may be infected by a virus or develop harmful cancerous mutations. Cell death is also an essential part of development from an embryo. For example, mouse paws begin as spade-like structures and only form the individual digits as the cells in between die. During apoptosis the cells fragment into smaller apoptotic bodies, and their cell surface is flipped open to display lipid molecules called phosphatidylserines, which act as an ‘eat me’ signal to recruit cells called macrophages to engulf them, before their contents spill out and damage the surrounding tissue. This is a process known as efferocytosis. (more…)

Think peach: the true symbol of breast cancer awareness

Breast cancer awareness

Breast cancer researcher, Dr Luca Magnani, looks beyond the pink ribbon campaign to find the true symbol of breast cancer awareness.

It’s that time of year once again: Instagram and Twitter will adopt a light shade of pink, companies will adorn their products with the ubiquitous pink ribbon, all to remind us of Breast Cancer Awareness Month. To a breast cancer scientist such as myself, October always brings out ambiguous emotions. On one side, it serves as a reminder of all the great research and results that we have achieved. Statistics show that things are getting better for many women, as mortality rates have halved in the last 20 years. October also prompts many of us to remember that there is nothing better than prevention when talking about breast cancer. Early screening measures have revolutionised outcomes for women; it’s very likely that almost 50% of the lives that were saved depended on catching the cancer earlier. (more…)