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Insight blog: Posts tagged with genetics

Stories about the people, science and research of the Medical Research Council.

Sharing the science of gene therapy

9 Jan 2019

This festive season, stem cell scientist Professor Bobby Gaspar, from the UCL Great Ormond Street Institute of Child Health, appeared as a special guest on the BBC Royal Institution Christmas Lectures. Here he shares the thrill of healing patients using gene therapy – and why it’s so important to communicate the science behind new medicines to the world.

Professor Aoife McLysaght, gene therapy patient Rhys & Professor Bobby Gaspar. Image: Paul Wilkinson Photography

Professor Aoife McLysaght, gene therapy patient Rhys & Professor Bobby Gaspar. Image: Paul Wilkinson Photography

To be a part of the Christmas Lectures alongside Rhys, the first patient to be successfully treated at Great Ormond Street Hospital with gene therapy back in 2001, was very special. [...]

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Behind the picture: How fly eye cells get their shape

28 Feb 2018

The main goal of the Pichaud lab at the MRC Laboratory for Molecular Cell Biology at University College London is to understand how fly eye cells get their shape. But why do fly eyes matter? And how can studying fruit fly eyes help us fight cancer in humans? Franck Pichaud and Rhian Walther explain all.

Image: Fruit fly photoreceptors imaged with confocal microscope. Copyright : Franck Pichaud Lab

Image: Fruit fly photoreceptors imaged with confocal microscope. Copyright : Franck Pichaud Lab [...]

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Sharing rare data for a common cause

10 Jan 2018

The information that gathers in our wake as we move through life and health centre or hospital waiting rooms is a powerful tool for medical research. Cecily Berryman tells us how a health emergency brought discussions about data science to the heart of her family.

Three years ago my husband suddenly became very ill. He needed emergency surgery to fix a tear in his aorta, the huge artery that carries blood as it pumps away from the heart. Afterwards the surgeon called it an ‘acute aortic dissection’ and mentioned it was likely to be a connective tissue disorder that has a genetic cause. Extensive testing revealed it was not a known disorder. [...]

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Single cell technology – an eye for detail

25 May 2016

New technology is helping scientists study the secrets of single cells in more detail than ever before. Dr Roy Drissen at the  MRC Weatherall Institute for Molecular Medicine tells Sylvie Kruiniger how single cell technology has helped them discover a previously unknown stage in blood cell development which may have implications for the future of leukaemia treatment.

Dr Roy Drissen holds a microfluidic chip. Photo: martinphelps.com

 

“Before Galileo invented the telescope, we could just see Jupiter. With the telescope, we saw that Jupiter had moons. That’s what single cell technology is doing for biology: where we used to think there was only one type of cell, we can now see several.” [...]

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UK Biobank: looking at the whole person

14 Apr 2016

Today, the UK Biobank has launched the largest body scanning project in the world. Funded by the MRC, Wellcome Trust and British Heart Foundation, the biobank will scan 100,000 people to provide images of their brains, hearts, bones, carotid arteries and abdominal fat. Head of the Division of Brain Sciences at Imperial College London Professor Paul Matthews is one of the academic experts who have been supporting UK Biobank to create this resource and he tells us how it could prove invaluable to all areas of medicine.

Professor Paul Matthews

Building the bank
Over 10 years, the UK Biobank has recruited and gathered a wealth of high quality information from 500,000 people across the country. These people have donated blood, urine and saliva samples, provided detailed health, lifestyle and environment information and agreed to allow the biobank to follow their GP and hospital records throughout life.

Now we will be adding sophisticated imaging to enrich our understanding of the origins and progression of the major diseases of later life. [...]

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To the Crick! Part two: The Royal Society welcomes its first collection of personal papers from a female Fellow

8 Mar 2016

In ‘To the Crick! Part 1: Moving home after 100 years’ we talked about how items like personal papers from the MRC National Institute for Medical Research (NIMR) archives are in need of a new home. The papers of one of NIMR’s most famous names, Rosa Beddington, are being rehoused in the archive of The Royal Society. Royal Society archivist Laura Outterside is celebrating the arrival of the first collection of personal papers from a female Fellow of the Royal Society (FRS). This post was originally published on The Respository and has been adapted and reproduced here with kind permission from The Royal Society.

Rosa Beddington

Rosa Beddington on admissions day in 1999 when she became a Fellow of the Royal Society. ©The Royal Society

What better way for the Royal Society archive to celebrate International Women’s Day than by welcoming our first collection of personal papers from a female Fellow? We’ve recently had the good news that the Royal Society archive will be the new home for the papers of Rosa Beddington, a developmental biologist at the NIMR who became a Fellow of the Royal Society in 1999. [...]

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Working Life: computational biologist Dr Shamith Samarajiwa

12 Feb 2016

Dr Shamith Samarajiwa’s computational biology group is the newest team at the MRC Cancer Unit. His group develops multi-disciplinary data science, data engineering and computational biology solutions to understand the complex biological systems involved in carcinogenesis. 

Dr Shamith Samarajiwa

Dr Shamith Samarajiwa (Copyright: Johannes Hjorth)

Career in brief

This is an exciting time to be dealing with biomedical data. In a world poised and waiting for personalised medicine, computational biology will help us to detect cancer sooner by realising the potential of big datasets. There are millions of datasets already out there but these are completely underutilised. [...]

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How EU rules could restrict genetic testing

19 Oct 2015

Proposed amendments to draft European regulations governing the use of medical devices could see the use of genetic tests restricted to specific scenarios. Here Will Greenacre, Policy Officer at the Wellcome Trust, explains how medical research funders are getting together to raise concerns that the proposals could limit the availability of genetic testing — and hamper the burgeoning field of stratified medicine.

Image credit: Wellcome Library, London

Image credit: Wellcome Library, London

Genetic testing is becoming an increasingly vital part of mainstream healthcare. These types of tests, usually carried out on blood samples, are used to identify the presence or absence of particular genetic variants. The results are then analysed to diagnose a condition, determine susceptibility to developing a disease, or to inform a course of treatment.

For example, a doctor might refer a patient for genetic testing because their family history indicates an increased risk of heart disease. Genetic testing can identify raised susceptibility, and then inform conversations between doctor and patient about lifestyle changes and, if necessary, further treatment to reduce the risk.

Genetic tests are in the spotlight right now because the European Union is currently redrawing the rules governing the manufacture and sale of all medical devices, including in vitro diagnostic devices from blood glucose monitoring kits for diabetes and home pregnancy tests, right through to complex hospital assays. [...]

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£60m to unravel genes and disease

29 Aug 2012

The MRC has awarded £60m over five years to the MRC Human Genetics Unit and the MRC Institute of Genetics and Molecular Medicine (IGMM) at the University of Edinburgh. This video, produced by the University of Edinburgh, explains how researchers will use this funding to look at the genetics that underlie diseases such as melanoma and heart disease, and incorporate what they learn into diagnosing and treating patients.

[vimeo 48132570 w=600 h=400] [...]

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