And he was surprised by what he learned.
GENES AND CANCER
Collins has a predisposition for type-2 diabetes, something he had never suspected. And so it goes in the fledgling genome field. James Lupski of the Baylor College of Medicine in Houston studied his own entire DNA map and sequenced the genomes of family members -- including his deceased grandfather -- to diagnose the simptomele paraziților pielii umane causing his rare genetic nerve disease, called Charcot-Marie-Tooth syndrome.
Still, Collins describes this as low-hanging fruit. He says the hard work is only just beginning. In a sense, the field is a cancer and genetic changes of its own success. That was one of the big surprises patriotismul de vierme the Human Genome Project.
While many have given blood before, this time they are donating their DNA and medical records, both past and future, to a vast experiment that will track them to the grave. It sounds Orwellian. Yet cancer and genetic changes checking into UK Biobank -- backed by the government and the Wellcome Trust -- are keen to participate in something that might help their children or grandchildren.
So far someBritons have signed up, consenting to have their DNA sequenced and their health tracked, anonymously, through the National Health Service. Principal investigator Dr. Rory Collins says it is only by doing such large-scale sampling that scientists can uncover how lifestyle factors interact with a long list of rare genetic variants to cause common diseases. Organizers hope it will go beyond what earlier biobanks cancer and genetic changes -- like one in Iceland that helped create gene-hunting firm Decode Genetics.
It re-emerged as a private business in January.
PUT IT IN THE BIOBANK
Decode was one of a number of biotech start-ups that rode the first wave of genomics, offering the technological tools needed to understand the links between genes and diseases. Many fell by the wayside after just a couple of years -- but not all. Human Genome Sciences Inc is one that finally looks set for prime time. Its shares have skyrocketed since last year, when it reported unexpectedly strong data from a trial of its experimental lupus drug Benlysta.
If approved, the drug, which is being developed in partnership with GlaxoSmithKline Plc, would be the first new treatment for lupus, a serious immune system disease, in more than 50 years. But cancer and genetic changes winners are rare and investors remain wary of biotech drug developers over-selling the promise of genomics, given the fact that new medicines face a risky, 10 to year path to market.
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In fact, the past decade has turned out to be the worst in the history of the drugs industry, with a dearth of new medicines and an unprecedented cliff of patent expiries. The problem for drug developers and investors is that greater knowledge has brought with it greater complexity, frustrating early hopes for relatively simple fixes to complex diseases.
Yet Cardon, too, now sees a turning point, driven by cheaper, faster sequencing and clear advances in one key disease area -- cancer. The only way to tell now is to wait until tumors are big enough to be spotted by imaging machines.
Slideshow 19 images That could soon change. The test takes advantage of rapid advances in the technology to sequence whole genomes. Vogelstein said the rapidly falling cost of genome sequencing means the blood test could be affordable enough to be on the market within two years.
Special Report: Fast machines, genes and the future of medicine - Reuters
Before long, all cancer patients could have their tumors sequenced routinely to find the genetic defects that cause them to grow. There were probably done last year. Lifton predicts that within the next two years, scientists will have the genetic sequence of every major human cancer.
A new industry is just emerging to help them get there -- and its smart kit is bowling over scientists.
Eric Green had never seen anything like it. Richard Gibbs, who directs the Human Genome Sequencing Center at Baylor College of Medicine in Houston, said there are about 20 to 30 different sequencing companies out there that are trying new things. He said scientists had expected to have to wait for these machines to produce real breakthroughs, but the ones by Illumina and Life Technologies are cranking out so much data and the price is falling so quickly that they are likely to be the ones that transform medicine.
Collins is confident they can do it. The Beijing Genomics Institute just bought Illumina machines and is employing 1, researchers to focus on illnesses that are specific to Asian populations.
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They may also find new markets for drugs. The discovery saved the drug, which only works in about 10 to 15 percent of lung cancer patients in Europe and which was headed for the trash bin. Collins agrees. After all, the leading causes of death in the developed world -- cancer, heart disease, stroke, diabetes -- all can be prevented to a large degree with exercise, by avoiding tobacco and by eating less fat and sugar and more fruits and vegetables.
Then again, he had no family history of diabetes.