The breakthrough of 'gene targeting'

Almost every human disease has a genetic component and the research that earned this year's Nobel Prize in medicine developed into a practical method of finding out which defective gene gives someone a particular disorder. It also lies at the heart of the international effort to use embryonic stem cells for regenerative medicine.

The three scientists who yesterday claimed the most coveted prize in science pioneered the development of genetically modified mice to understand the fundamentals of human diseases.

Their discoveries led to the creation of laboratory mice to be used as medical models for more than 500 human disorders, ranging from heart disease and neuro-degenerative illnesses to diabetes and cancer. Learning how to modify mice genes using embryonic stem cells has also been pivotal in understanding how human embryonic stem cells may be used in future to treat diseased organs and tissues in situ, rather than relying on surgical transplants.

Sir Martin Evans, 66, of Cardiff University, discovered that embryonic stem cells from mice had the power to develop into any tissues of the body, and developed the techniques of altering their genes using retroviruses. Capecchi and Smithies, working independently, discovered how to target individual genes and to create "knockout" mice, where an individual gene is eliminated to create a mouse model of a human disorder caused by a defective gene.

Goran Hansson, a member of the Nobel committee, said targeting genes had transformed the understanding of human physiology and medicine. "It is difficult to imagine contemporary medical research without the use of gene-targeted models," he added. "The ability to generate predictable designer mutations in mouse genes has led to penetrating new insights into development, immunology, neurobiology, physiology and metabolism.

"The development of novel therapies to correct genetic defects in man will build on the experience of gene modification in mice that is based on the discoveries made by Capecchi, Evans and Smithies."

To date, scientists have selectively knocked out about 10,000 mouse genes – about half of the mammalian genome – in an attempt to discover each gene's function. They hope to complete the process in the next few years and, thereby, understand the role of each gene in the overall function of the body. It was only in 1989 that the strands of the three scientists' researches were brought together to generate the first embryonic stem cells from mice which had undergone gene-targeted modification.

Lord Rees of Ludlow, the president of the Royal Society, said the award recognised Sir Martin's groundbreaking research. "He is a world leader in mammalian genetics and his research has undoubtedly increased our understanding of human diseases," he said.

From stem cells to 'knockout' mice

Sir Martin Evans is Professor of Mammalian Genetics at Cardiff University and a leading authority on embryonic stem cells, the cells of the early embryo that can develop into any of specialised tissues of the body. Sir Martin was the first person to isolate stem cells – the vital cells with the power to become anything from heart muscle to nerves – from early mouse embryos.

Born in 1941, he read biochemistry at Cambridge in the early 1960s, before going on to do a PhD at University College London where he then taught in the Anatomy and Embryology Department.

Sir Martin,66, demonstrated how to eliminate a functioning gene from an embryonic stem cell of a mouse, which could then be used to create a living mouse with that gene defect.

The first seminal paper on his findings was published in Nature in 1981, in which Sir Martin pointed out that embryonic stem cells might be genetically modified to create mice that could be used as models of human diseases.

By the end of the 1980s, his work had been merged with that of Mario Capecchi and Oliver Smithies to create "knockout" GM mice that had had targeted genes eliminated.

News
Netherlands' goalkeeper Tim Krul fails to make a save from Costa Rica's midfielder Celso Borges during a penalty shoot-out in the quarter-final between Netherlands and Costa Rica during the 2014 FIFA World Cup
newsGoalkeepers suffer from 'gambler’s fallacy' during shoot-outs
Arts and Entertainment
Sydney and Melbourne are locked in a row over giant milk crates
artCultural relations between Sydney and Melbourne soured by row over milk crate art instillation
News
A scene from the video shows students mock rioting
newsEnd-of-year leaver's YouTube film features playground gun massacre
News
Two giraffes pictured on Garsfontein Road, Centurion, South Africa.
i100
PROMOTED VIDEO
Environment
View from the Llanberis Track to the mountain lake Llyn
Du’r Arddu
environmentA large chunk of Mount Snowdon, in north Wales, is up for sale
Travel
travel
Voices
A family sit and enjoy a quiet train journey
voicesForcing us to overhear dull phone conversations should be regarded as an offensive act
News
Kenny Ireland, pictured in 2010.
peopleBenidorm, actor was just 68
News
people
News
i100This Instagram photo does not prove Russian army is in Ukraine
News
Morrissey pictured in 2013
people
News
ebookA unique anthology of reporting and analysis of a crucial period of history
News
i100
Life and Style
The director of Wall-E Andrew Stanton with Angus MacLane's Lego model
gadgetsDesign made in Pixar animator’s spare time could get retail release
News
peopleGuitarist, who played with Aerosmith, Lou Reed and Alice Cooper among others, was 71
Environment
Tyred out: should fair weather cyclists have a separate slow lane?
environmentFormer Labour minister demands 'pootling lanes' for women cyclists
News
people
Independent
Travel Shop
the manor
Up to 70% off luxury travel
on city breaks Find out more
santorini
Up to 70% off luxury travel
on chic beach resorts Find out more
sardina foodie
Up to 70% off luxury travel
on country retreats Find out more
Latest stories from i100
Have you tried new the Independent Digital Edition apps?
Independent Dating
and  

By clicking 'Search' you
are agreeing to our
Terms of Use.

iJobs Job Widget
iJobs General

Training Programme Manager (Learning and Development)-London

£28000 - £32000 per annum + benefits: Ashdown Group: Training Programme Manage...

VB.Net Developer - £40k - Surrey - WANTED ASAP

£35000 - £40000 per annum + competitive: Progressive Recruitment: .Mid Level V...

Digitakl Business Analyst, Slough

£40000 - £45000 per annum + Competitive Benefits: Progressive Recruitment: Dig...

Mechanical Estimator: Nuclear Energy - Sellafield

£40000 - £50000 per annum + Car, Medical, Fuel + More!: Progressive Recruitmen...

Day In a Page

Dress the Gaza situation up all you like, but the truth hurts

Robert Fisk on Gaza conflict

Dress the situation up all you like, but the truth hurts
Save the tiger: Tiger, tiger burning less brightly as numbers plummet

Tiger, tiger burning less brightly

When William Blake wrote his famous poem there were probably more than 100,000 tigers in the wild. These days they probably number around 3,200
5 News's Andy Bell retraces his grandfather's steps on the First World War battlefields

In grandfather's footsteps

5 News's political editor Andy Bell only knows his grandfather from the compelling diary he kept during WWI. But when he returned to the killing fields where Edwin Vaughan suffered so much, his ancestor came to life
Lifestyle guru Martha Stewart reveals she has flying robot ... to take photos of her farm

Martha Stewart has flying robot

The lifestyle guru used the drone to get a bird's eye view her 153-acre farm in Bedford, New York
Former Labour minister Meg Hillier has demanded 'pootling lanes' for women cyclists

Do women cyclists need 'pootling lanes'?

Simon Usborne (who's more of a hurtler) explains why winning the space race is key to happy riding
A tale of two presidents: George W Bush downs his paintbrush to pen father’s life story

A tale of two presidents

George W Bush downs his paintbrush to pen father’s life story
Restaurateur Mitch Tonks has given the Great Western Pullman dining car a makeover

The dining car makes a comeback

Restaurateur Mitch Tonks has given the Great Western Pullman dining car a makeover
Gallery rage: How are institutions tackling the discomfort of overcrowding this summer?

Gallery rage

How are institutions tackling the discomfort of overcrowding this summer?
Louis van Gaal has £500,000 video surveillance system installed to monitor Manchester United players

Eye on the prize

Louis van Gaal has £500,000 video surveillance system installed to monitor Manchester United players
Women's rugby: Tamara Taylor adds fuel to the ire in quest to land World Cup

Women's rugby

Tamara Taylor adds fuel to the ire in quest to land World Cup
Save the tiger: The day America’s love of backyard tigers led to a horrific bloodbath

The day America’s love of backyard tigers led to a horrific bloodbath

With only six per cent of the US population of these amazing big cats held in zoos, the Zanesville incident in 2011 was inevitable
Samuel Beckett's biographer reveals secrets of the writer's time as a French Resistance spy

How Samuel Beckett became a French Resistance spy

As this year's Samuel Beckett festival opens in Enniskillen, James Knowlson, recalls how the Irish writer risked his life for liberty and narrowly escaped capture by the Gestapo
We will remember them: relatives still honour those who fought in the Great War

We will remember them

Relatives still honour those who fought in the Great War
Star Wars Episode VII is being shot on film - and now Kodak is launching a last-ditch bid to keep celluloid alive

Kodak's last-ditch bid to keep celluloid alive

Director J J Abrams and a few digital refuseniks shoot movies on film. Simon Usborne wonders what the fuss is about
Once stilted and melodramatic, Hollywood is giving acting in video games a makeover

Acting in video games gets a makeover

David Crookes meets two of the genre's most popular voices