Showing posts with label genes. Show all posts
Showing posts with label genes. Show all posts

Wednesday, 10 October 2007

Key gene work scoops Nobel Prize

reposted from: http://news.bbc.co.uk/1/hi/health/7033492.stm

Key gene work scoops Nobel Prize
Sir Martin Evans
Sir Martin used the technology to probe cystic fibrosis
Two US scientists and their UK collaborator have been awarded the Nobel Prize for medicine for their groundbreaking work in gene technology.

Mario Capecchi, Oliver Smithies and Briton Martin Evans developed a technique known as gene targeting.

It enabled them to replicate human diseases in mice by introducing genetic changes into the animal's stem cells.

The Nobel Committee said this had led to many new insights into conditions such as cancer and heart disease.

Its impact on the understanding of gene function and its benefits to mankind will continue to increase over many years to come
Nobel committee

For instance, science has gained a greater understanding of how disease can strike otherwise healthy people.

The technique has also helped to shed new light on the ageing process, and on how the embryo develops in the womb. It can be used to study almost every aspect of mammalian physiology.

In its citation, the Nobel Committee praised the technique as "an immensely powerful technology" which was now being used in virtually all areas of biomedical research.

"Gene targeting in mice has pervaded all fields of biomedicine," it said.

"Its impact on the understanding of gene function and its benefits to mankind will continue to increase over many years to come."

Gene knockout

The technique is commonly described as gene "knockout".

Professor Mario Capecchi
Professor Capecchi specialises in organ generation

It enables scientists to silence specific genes, and monitor the effect, so that gene-by-gene they are able to build a picture of the development of disease.

To date more than 10,000 mice genes - around half of the total - have been knocked out, with the rest confidently predicted to follow soon.

As a result, more than 500 different mouse models of human disorders have been developed - including cardiovascular and neuro-degenerative diseases, diabetes and cancer.

The technology spun out of the discovery by Sir Martin of embryonic stem cells in mice.

These cells form all tissues of the body and Sir Martin found that they could be removed and grown separately in the laboratory.

All three scientists, who will share the prestigious $1.54 million award, have subsequently used gene targeting to make significant advances.

This group's work has given hope to many thousands of people currently suffering from incurable genetic conditions
Jo Tanner
Coalition for Medical Progress

Professor Capecchi, based at the University of Utah, has used the technology to uncover the role of genes involved in organ development, and the overall plan of the body.

Sir Martin, of the University of Cardiff, has specialised on the inherited disease cystic fibrosis.

He described the award as like winning the "World Cup".

He said: "It's wonderful - the sort of thing which when you start off as a youngster in science you look up to these fantastic Nobel Prize winners, and think, could that ever be you? No, of course not.

Professor Smithies, of the University of North Carolina at Chapel Hill, was born in the UK, but has since taken US citizenship.

He has developed mouse models for common human diseases such as high blood pressure and thickened arteries.

Profound effect

Professor Stephen O'Rahilly, of the University of Cambridge, said: "The development of gene targeting technology in the mouse has had a profound influence on medical research.

"Thanks to this technology we have a much better understanding of the function of specific genes in pathways in the whole organism and a greater ability to predict whether drugs acting on those pathways are likely to have beneficial effects in disease."

Jo Tanner, of Coalition for Medical Progress, said: "If we are ever going to find cures for genetic conditions such as muscular dystrophy and cystic fibrosis, scientists will need to work on animal models, identifying the genetic defects responsible and correcting them in animals before trialling potential treatments in humans.

"This group's work has given hope to many thousands of people currently suffering from incurable genetic conditions."

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Friday, 7 September 2007

Humans turn out to be as genetically different from one another as it was previously thought they were different from chimps

reposted from SciAm
Study: Humans' DNA not quite so similar | AP

Humans turn out to be as genetically different from one another as it was previously thought they were different from chimps

Proponents of Evo-Devo, whose practitioners inquire into the developmental significance of various genes, and in so doing have discovered that, among other things, some genes have much more power to shape body plans than others, like to point to the supposed similarity between humans and chimps -- ~99% shared DNA -- to illustrate the power of just a few genes to effect radical changes in the phenotype of an animal.

This finding in no way diminishes Evo-Devologists' (Evo-Devonators?) findings, but they might have to find a different handy example to hang their hat on:

It turns out that humans may have as little as 99% of their genes in common with one another, and, by the same analysis, as little as 95% of their genes in common with chimpanzees.

The results came out of a detailed analysis, published in PLoS Biology, of J. Craig Venter's genome by -- get ready to get meta -- J. Craig Venter himself. (With the help, no doubt, of dozens of his minions at Celera Genomics and/or the J. Craig Venter institute)

In the analysis, Venter compared his own genome to the 'standard' genome produced by the official, government-sponsored Human Genome Project (which used a mix of different individuals' DNA).

A second, as yet unpublished analysis of the recently-completed genome of James Watson, co-discoverer of DNA, appears to have yielded similar results.

No telling what this ultimately really means, since both the original value for how similar humans are to one another -- 99.9% similar -- and the new value are somewhat arbitrary numbers until we know what all those genes do. I recommend you check back at this blog in about 50 years.

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Wednesday, 5 September 2007

Scientists discover height gene

reposted from BBC

Scientists discover height gene
Woman being measured
The first gene which helps determine height has been found
Scientists have discovered the first gene that influences a person's height.

People who carry two copies of the "tall" version of the HMGA2 gene are up to 1cm taller than those who carry two copies of the "short" version.

The international team of researchers say the discovery could aid a greater understanding of the link between height and disease.

They predict in the journal Nature Genetics many other genes will now be uncovered that control height.

Because height is a complex trait, involving a variety of genetic and non-genetic factors, it can teach us valuable lessons about the genetic framework of other complex traits
Professor Joel Hirschhorn
Harvard University

Although it has long been clear that genetics plays a key role in determining a person's height, the genes involved have remained a mystery.

The latest study is a collaboration between Harvard University, the Children's Hospital Boston, Oxford University and the Peninsula Medical School in Exeter.

They analysed the genomes of 5,000 white European patients, who gave DNA samples and details of their height and weight for medical studies into diabetes and heart disease.

They found just one tiny change in the HMGA2 gene had an impact on a person's height.

The finding was confirmed by searching for the same two key versions of the gene in a further 30,000 patients.

Cancer link

Around 25% of white Europeans carry two copies of the "tall" version of the gene, while a similar proportion have two copies of the "short" version.

Carrying one copy of the "tall" version of the gene adds around 0.5cm to a person's height, while two copies adds nearly a full centimetre.

Previous research has suggested that HMGA2 plays an important role in human growth.

Rare, severe mutations in the gene cause dramatic alterations of body size in mice and humans.

Researcher Dr Tim Frayling, of the Peninsula Medical School, said: "Height is a typical 'polygenic' trait, in other words many genes contribute towards making us taller or shorter.

"Clearly, our results do not explain why one person will be 6ft 5in (195.6cm) and another only 4ft 10in (147.3cm).

"This is just the first of many that will be found, possibly as many as several hundred."

A greater understanding of the genes behind height could also provide clues about risk of disease.

Taller people are statistically more likely to be at risk from prostate, bladder and lung cancer.

This suggests that the genes that regulate cell growth and division may also play a role in the uncontrolled cell proliferation characteristic of cancer.

Conversely, shorter people are known to have a higher risk of heart disease.

Professor Joel Hirschhorn, an expert in genetics at Harvard, said "This is the first convincing result that explains how DNA can affect normal variation in human height.

"Because height is a complex trait, involving a variety of genetic and non-genetic factors, it can teach us valuable lessons about the genetic framework of other complex traits, such as diabetes, cancer and other common human diseases."

He added: "By defining the genes that normally affect stature, we might someday be able to better reassure parents that their child's height is within the range predicted by their genes, rather than a consequence of disease."

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