Health Care For The Poor

LONDON (Reuters) – Scientists studying the human genome have found that each of us is carrying around 20 genes that have been completely inactivated, suggesting that not all switched-off genes are harmful to health.

A team at Britain’s Wellcome Trust Sanger Institute is developing a new catalogue of so-called “loss-of-function” (LoF) gene variants to help identify new disease-causing mutations, and say their work will help scientists better understand the normal function of human genes.

Working as part of larger study called the 1000 Genomes Project, the team developed a series of filters to identify common errors in the human genome, which maps the entire genetic code.

“The key questions we focused on for this study were how many of these LoF variants were real and how large a role might they play in human disease,” said Daniel MacArthur of the Sanger Institute, who worked on the team.

The researchers looked at nearly 3,000 possible LoF variants in the genomes of 185 people from Europe, East Asia and West Africa. Their findings were published in the journal Science on Thursday.

Loss of function variants are genetic changes that are predicted to severely disrupt the function of genes. Some are known to cause severe human diseases such as muscular dystrophy and cystic fibrosis.

Previous genome sequencing projects have suggested there are hundreds of these variants in the DNA of even perfectly healthy individuals, but researchers were not able to tell exactly how many.

In this study, the filters revealed that 56 percent of the 3,000 possible LoFs analyzed were unlikely to seriously affect gene function.

But of the true LoF variants, 100 are typically found in the genome of each European, the researchers said, and 20 affect both copies of the gene – meaning they are likely to result in complete loss of gene function.

“This shows that at least 1 percent of human genes can be shut down without causing serious disease,” said Mark Gerstein, a professor of biomedical informatics from Yale University in the United States, who also worked on the study.

“We were able to use the differences between such ‘LoF-tolerant’ genes and known human disease genes to develop a way of predicting whether or not a newly discovered change in a gene is likely to be severely disease-causing.”

Chris Tyler-Smith, who led the team at the Sanger Institute, said the findings would prove immediately useful for current DNA sequencing studies in patients with particular diseases.

The results produced a list of more than 1,000 LoF variants, he said, “and in most cases little or nothing is known about how these genes work or what they do.

“By studying the people carrying them in detail, we should get new insights into the function of many poorly known human genes.”

(Reporting by Kate Kelland)

A clan chief has accused ministers and Scottish Natural Heritage of ignoring concerns about a proposed marine special area of conservation (SAC).

The Sound of Barra SAC would give protection to habitats and species such as harbour seals and seagrass.

Rory MacNeil, chief of Clan MacNeil of Barra, said locals had worked with the environment for hundreds of years.

The Scottish government said there has been consultation about the proposed SAC and no decisions have been taken.

Islanders have raised concerns that the designation would restrict access to fisheries and damage the Western Isles' economy.

Western Isles SNP MSP and Minister for Gaelic, Alasdair Allan, said opposition to the SAC would be made "very clear" at a Holyrood debate on Wednesday.

Mr MacNeil, a venture capitalist based in Edinburgh, told BBC Alba that the SNP had followed a previous Labour government in proposing the SAC.

But he said: "I don't think it has anything to do with if it is the SNP or Labour.

"The fundamental issue is the same – they are not listening to the people in the area, the people who have been living very happily with the environment for hundreds of years.

"They are not respecting their ability to take care of the environment.

"Instead both Labour and SNP governments have decided to let a bureaucratic entity run wild and in effect upset what is a very natural existing system."

Mr MacNeil became clan chief in 2010 following the death of his father Iain MacNeil, who was 80. The late Mr MacNeil taught a young Barack Obama a course on contract law while a visiting professor at Harvard Law School.

'Caused grievance'

Ahead of Wednesday's debate in the Scottish Parliament, the Conservatives and Labour have put forward motions against the designation.

The motions have support from Liberal Democrats and independents.

Mr Allan said he would be making clear his opposition to the designation during Wednesday's debate.

He said: "The whole process around these designations, which exist under the European Habitats Directive, has clearly caused grievance in Barra.

"The process legally excludes the community from having anything other than scientific arguments considered – meaning the whole argument about the fragility of the island economy is sidelined.

"I believe more recognition needs to be given to the fact that the Western Isles has the environment it does because generations of islanders have used it responsibly."

He added: "For over three years I have been arguing as local MSP that the designation serves no useful purpose but has caused real anxiety locally."

DAVOS, Switzerland (Reuters) – Roche Holding AG’s rivals Sanofi SA and Novartis AG see no need to match the Swiss drug maker in buying a gene-decoding business like Illumina Inc and reckon they can do partnerships instead.

The relaxed attitude in the face of Roche’s $5.7 billion hostile bid for Illumina suggests the chance of a counterbid from big drug makers is slim, although diagnostics and IT companies may yet show interest.

“Everybody is thinking about diagnostics but you can get access to this technology without necessarily having to acquire the company,” Novartis Chief Executive Joe Jimenez told Reuters at the World Economic Forum in Davos.

U.S.-based Illumina is a major player in the emerging field of gene sequencing, which allows scientists to better predict those patients that are likely to respond to a particular drug.

The San Diego company makes machines that decode a person’s entire genome, going far beyond simple genetic tests that are already used in diseases such as cancer to test for a handful of gene variations.

Genetic profiling is getting increased attention from the global pharmaceuticals industry as companies move towards a new era of “personalized” medicine, designed to tailor treatment to particular patients.

That plays to the strengths of Roche, which is a major supplier of diagnostics tests as well as the world’s largest maker of cancer drugs.

The hope is that wider use by doctors will expand as the cost of sequencing drops and drug makers adopt more medicines that target specific genes.

But the full potential of whole-genome sequencing is unclear. At the moment, Illumina’s systems are used mainly in research laboratories. Their widespread application in clinical practice, potentially tied to certain drugs, remains a “blue sky” opportunity, according to Deutsche Bank analysts.

Furthermore, the drug industry’s record of capitalizing on new technologies has been mixed and Chris Viehbacher, CEO of Sanofi, said he had a “deep aversion” to buying technology platforms.

“It’s just not the risk profile we’re looking for. It could pay off well or there’s a big downside,” he said. “You need to be part of new technologies but I think partnership is the way to go.”

And he’s not too concerned that Roche’s control of a dominant player in gene decoding might lock out his company. “You can’t imagine Illumina only developing diagnostics for Roche products — that’s not much of a business model,” he said.

POISON PILL

Viehbacher pointed out that acquisitions did not have to disrupt ongoing partnerships, as evidenced by two deals on Thursday — Amgen Inc’s agreement to buy Micromet Inc and Celgene Corp buying Avila Therapeutics. Sanofi has alliances with both target companies.

Amgen’s decision to fork out $1.16 billion on cancer drug developer Micromet has quelled speculation it might challenge Roche on Illumina. [ID:nL2E8CQ27X]

Pharma industry bankers and analysts say Siemens, General Electric, Thermo Fisher Scientific, Danaher, Agilent Technologies and Johnson & Johnson are other potential interlopers, although it is not clear any will want to make a competing bid.

In the meantime, Roche has a battle on its hands after Illumina adopted a “poison pill” defense strategy that would trigger a rights agreement if any party buys 15 percent of its stock.

Viehbacher told Reuters he was continuing to look at bolt-on acquisitions and reiterated he expected annual deals of between 1 billion and 2 billion euros (1.3-2.6 billion) — similar to previous years — in areas such as emerging markets, consumer healthcare and animal health.

Finding good buys, however, is not easy.

“When you look at all the deals going on in our sector the values are looking pretty racy. I think the only way you create value is trying to buy ahead of the cycle, so where we’re going to be is not necessarily where our competitors are,” he said.

(Reporting by Ben Hirschler. Editing by Jane Merriman)

The chance of a big earthquake hitting the Japanese capital in the next few years is much greater than official predictions suggest, researchers say.

They based their calculations on data from Japan's Meteorological Agency, They said their results show that seismic activity had increased in the area around the capital, which in turn leads to a higher probability of a major quake.

The researchers say that while it is "hard to predict" the casualty impact of a major quake on Tokyo, the government and individuals should be prepared for it.

Correspondents say that while the university calculations take account of greater seismic activity since March, government calculations may use different or less up-to-date data and different modelling techniques.

The 9.0 magnitude earthquake last year also crippled the cooling systems at the Fukushima nuclear power station, causing meltdowns in some of its reactors.

Japan is located on a tectonic crossroads dubbed the "Pacific Ring of Fire" which is why its is commonly regarded as one of the world's most quake-prone countries, with Tokyo located in one of the most dangerous areas.