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The Future of DNA Sequencing Isn't in the Lab
Posted: October 16, 2012 at 4:23 pm
Up until now, the money Illumina (Nasdaq: ILMN) , Roche, Life Technologies (Nasdaq: LIFE) , and Pacific Biosciences of California (Nasdaq: PACB) have made selling DNA sequencers has come from research labs. Academics need DNA sequencers to do basic research to understand how genetic variation affects biologic processes.
That basic research has translated into the clinic at an alarming rate, producing the next generation of DNA sequencing demand.
You can see it in the acquisitions Roche's bid for Illumina appeared to be mostly driven by bringing sequencing to the clinic. Roche has a strong hold in diagnostic testing, and Illumina's sequencing technology is superior to Roche's. But Roche played hardball and didn't want to overpay for the technology.
Last month, Illumina decided it could fill some of the gap on its own, purchasing BlueGenome, a leader in cytogenetics. The company sells tests that look at the DNA to identify genetic abnormalities that lead to cancer and other issues. Currently, those abnormalities are identified by binding probes to the DNA to identify duplications and fusion of chromosomes, but we're not too far off from where cancer patients just routinely get their DNA sequenced to identify the abnormalities.
Blue Genome also has a test to look for abnormalities before in vitro fertilization. Sequencing might be harder there, because of less DNA, but these issues are often overcome eventually.
It sure looks to me like Illumina bought BlueGenome more for its ability to sell and run the clinical test than for the test themselves, which may be obsolete in a few years given the rapid decrease in the cost of sequencing. We will get to the point where running individual tests like Sequenom's (Nasdaq: SQNM) MaterniT21 PLUS will be silly because the entire genome can be analyzed for the same cost.
Diagnosing Earlier this month, Life Technologies hooked up with CollabRx (Nasdaq: CLRX) to use the company's interpretive analytics to help develop tests for cancer diagnostics. CollabRx combines a patient's data from multiple sources to help the doctor develop a treatment plan. The genotype of a tumor tells you a lot about what drugs might be able to kill the tumor, but the genetic variation still needs to be taken in context with other pieces of information.
Getting the sequence and knowing what to do with it are two different things. One startup sequencing company, Knome, has begun selling a $125,000 supercomputer, so hospitals can analyze patients' DNA sequences directly. Having the process in-house might speed up diagnosis, but the appeal seems to also be about avoiding confidentiality issues for the patients when the data is shared externally. Either way, the fact that hospitals are buying the station is a sign that they see a future in using patients DNA sequences when diagnosing patients.
On the cusp (still) We've been on the verge of pushing genomics into diagnostics for years. Illumina added a new division for diagnostics back in 2008. Four years later, we're further along, but we're still a ways away from where DNA sequencing is a mainstream test done by most doctors.
The limiting factor is a combination of usefulness and cost, both of which are headed in the right direction. We're learning more about how genetic variations affect patients' physiologies. And the discoveries are accelerated as more people get their genomes sequenced.
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The Future of DNA Sequencing Isn't in the Lab
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DNA will play pivotal role in Ridgeway case
Posted: at 4:23 pm
DENVER - DNA evidence will almost certainly play a pivotal role in the ongoing investigation into the murder of Jessica Ridgeway, but a noted DNA expert cautions it can also potentially lead investigators down a rabbit hole.
Take the backpack that was found shortly after Jessica Ridgeway was reported missing as an example. It was found in a neighborhood in Superior.
"What if some kid sneezed on [Jessica's] backpack during recess [at her school]? Then we're focusing all of our efforts on this, and when we don't find that person we then think we haven't found the killer," Dr. Elizabeth Johnson told 9News from her California home on Monday.
Dr. Johnson has more than 20 years of experience working in the field of DNA technology. She was called by the defense to testify during the Kobe Bryant case in Colorado. She currently works in private forensic consultation.
"I think the biggest misconception about DNA technology is that it is infallible and that there are never mistakes made," she said. "Just because you someone's DNA on an object doesn't make them guilty of a criminal act."
Of course, she said, the presence of particular bodily fluids can also be indicative of a criminal act, and thus lead investigators closer to a killer. But she cautions that CSI-like television shows have raised the expectations of many people in inappropriate ways.
Dr. Andrew Bonham is an assistant professor at Metropolitan State University and says he still believes DNA will help in the Ridgeway murder investigation.
"I am almost 100 percent convinced," the molecular biology expert said. "That (the killer) is going to leave traces of DNA behind and that investigators are going to find those traces."
He said that current technology allows investigators to collect even seemingly miniscule portions of bodily fluids in an effort to identify critical DNA markers.
"We're now talking about almost less than you can perceive," he said.
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DNA clues catch more criminals
Posted: at 4:23 pm
A man allows police to take a DNA sample. Source: AFP
DNA technology now plays a key role in more than half of arrests and reports from crime scenes, as the number of people on the database grows.
Last financial year, DNA from crime scenes contributed to an arrest or a report in 52per cent of cases, up from 48per cent the previous year, reflecting an improvement in forensic science and crime scene investigation practices.
The South Australian Police annual report tabled in Parliament yesterday showed 97,396 suspects or offenders had samples entered on the DNA database, up from 84,629 in 2010-11.
While scientific work increasingly helps solve crimes, so does intelligence work.
During 2011-12 the Crime Gangs Task Force - which deals with organised crime and outlaw motorcycle gangs - arrested or reported 89 motorcycle gang members and 92 associates; seized 1175g of amphetamine, 130 cannabis plants, 5319g of cannabis, 165 ecstasy pills, 927 street deals of other illicit drugs; $139,000 in cash, 29 firearms and issued 42 barring orders.
Police Commissioner Gary Burns said victim-reported crime continued to drop, falling 5.6per cent in the past financial year (to 125,879 incidents) and 40.5per cent since 2000-01.
Other highlights in the report include:
18,534 reports received by Bank SA Crime Stoppers, resulting in 2066 crimes solved, 1166 suspects apprehended and $261,645 worth of property and cash recovered;
563,594 driver screening tests conducted, including 42,312 drivers tested for drug driving, 7779 cars impounded or clamped for hoon driving (compared to 7303 in 2010-11).
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DNA clues catch more criminals
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DNA exoneree James Woodard dies in custody of Dallas County jail
Posted: at 4:23 pm
New, 9:37 a.m.
In May 2008, James Woodard was freed from prison after he served 27 years for a crime DNA evidence said he did not commit: the Christmastime rape and murder of his girlfriend, whose body was found near the Trinity River. Hed been convicted in large part due to the testimony of an eyewitness who claimed to have been able to ID Woodard from several hundred yards away at 3:30 in the morning. And his was a high-profile exoneration, in part because 60 Minutes was there to document the entirety of Dallas Countys DNA-exoneration process from the moment Woodard submitted his DNA for testing till he was finally set free in a Dallas courtroom. National Public Radio reported on his release, which, for a brief moment, was a national story, one not like any other DNA case in Dallas County history. In time Woodard became a constant at the courthouse, showing up to welcome other exonerees to freedom.
But Woodard, who was 60 years old, is dead now and he died in while in the custody of Dallas County.
As KTVT-Channel 11 reported last night, Woodard had been arrested in August after Carrollton police were called to the scene of a traffic accident. Police arrested Woodard for several outstanding warrants, and Channel 11 reports officers found he was in possession of cocaine. The station also reports Woodard suffered from seizures; our Jennifer Emily says she once saw Woodard suffer a seizure at the courthouse during another exoneration hearing.
It remains unclear why Woodard was transported from Dallas County jail to Parkland Memorial Hospital early yesterday. Dallas County Sheriffs Department spokesperson Carmen Castro tells The News this morning only that weve opened an investigation into it, and thats all we have right now. We dont know any details, only that the investigation is ongoing.
Cory Session, policy director for the Innocence Project of Texas, was close to Woodard, and he told Channel 11 last night that hes directly responsible for the eyewitness ID law that Texas now has that requires all police agencies to have an eyewitness ID procedure in place. He was directly responsible for health insurance that wrongful convicted persons now have.
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New research examines modern humans’ ability to extend lifespan
Posted: at 4:23 pm
LOS ANGELES (MCT) Modern humans have gotten incomparably good at survival, doing more to extend our lives over the past century than our forebears did in the previous 6.6 million years since we parted evolutionary ways with chimpanzees, according to a new study.
In fact, humans in societies with plentiful food and advanced medicine have surpassed other species used in life-extending medical research in stretching our longevity and reducing our odds of dying at every point along our ever-lengthening lifespans, the study finds.
The research, published online Monday by Proceedings of the National Academy of Sciences, touches upon the hotly debated question of whether an upper limit to longevity is inscribed in our genes. It makes clear that life extension begins at birth, with a child born in the last four generations standing a better chance of being alive during infancy, adolescence, the reproductive years and after than in any of the 8,000 human generations that came before.
The study authors, from Germanys Max Planck Institute for Demographic Research, began by comparing people who have lived or now live in primitive hunter-gatherer societies around the globe in which lifespans have been well documented to citizens of industrialized countries in Europe and Asia. A typical Swede, for instance, is more than 100 times more likely to survive to the age 15 than a typical hunter-gatherer. And a hunter-gatherer who has reached the ripe old age of 30 is about as likely to die in the following year as the worlds champion of longevity a 72-year-old woman in Japan.
In evolutions actuarial table, the researchers wrote, 72 is the new 30.
The bulk of that progress has been made since 1800, when the average lifespan of a Swede at birth was 32. That is roughly on a par with the 31 years that the average hunter-gatherer can expect to live.
By the year 1900, the average lifespan in Sweden had reached 52, and today it stands at 82 an increase of more than 150 percent in just over 200 years.
That puts to shame efforts to extend the lives of laboratory animals, the study authors noted. By inducing genetic mutations in various species, scientists have boosted the longevity of nematode worms by more than 100 percent, of fruit flies by about 85 percent and of mice by roughly 50 percent. Experiments in caloric restriction have also extended the lives of lab animals, but they also fall short of humans real-world gains.
No species dramatizes the breathtaking rate of humans life extension more than chimpanzees, mankinds closest relative. At any age, the life expectancy of a human in a hunter-gatherer society is closer to that of a chimp in the wild than it is to a modern-day resident of Japan or Sweden, according to the study.
The authors wrote that the rapid improvements in human survival could only be accounted for by environmental changes, including better nutrition and medical advances; changes in the genome accumulate far too slowly to explain the progress.
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New research examines modern humans’ ability to extend lifespan
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Modern humans found to be fittest ever at survival, by far
Posted: at 4:23 pm
Modern humans have gotten incomparably good at survival, doing more to extend our lives over the last century than our forebears did in the previous 6.6 million years since we parted evolutionary ways with chimpanzees, according to a new study.
In fact, humans in societies with plentiful food and advanced medicine have surpassed other species used in life-extending medical research in stretching our longevity and reducing our odds of dying at every point along our ever-lengthening life spans, the study finds.
The research, published online Monday by the journal Proceedings of the National Academy of Sciences, touches upon the hotly debated question of whether an upper limit to longevity is inscribed in our genes. It makes clear that life extension begins at birth, with a child born in the last four generations standing a better chance of being alive during infancy, adolescence, the reproductive years and after than in any of the 8,000 human generations that came before.
The study authors, from Germany's Max Planck Institute for Demographic Research, began by comparing people who have lived or now live in primitive hunter-gatherer societies around the globe in which life spans have been well documented with citizens of industrialized countries in Europe and Asia. A typical Swede, for instance, is more than 100 times more likely to survive to the age 15 than a typical hunter-gatherer. And a hunter-gatherer who has reached the ripe old age of 30 is about as likely to die in the following year as the world's champion of longevity a 72-year-old woman in Japan.
In evolution's actuarial table, the researchers wrote, "72 is the new 30."
The bulk of that progress has been made since 1800, when the average life span of a Swede at birth was 32. That is roughly on a par with the 31 years that the average hunter-gatherer can expect to live today.
By the year 1900, the average life span in Sweden had reached 52, and today it stands at 82 an increase of more than 150% in just over 200 years.
That puts to shame efforts to extend the lives of laboratory animals, the study authors noted. By inducing genetic mutations in various species, scientists have boosted the longevity of nematode worms by more than 100%, of fruit flies by about 85% and of mice by roughly 50%. Experiments in caloric restriction have also extended the lives of lab animals, but they also fall short of humans' real-world gains.
No species dramatizes the breathtaking rate of humans' life extension more than chimpanzees, mankind's closest relative. At any age, the life expectancy of a human in a hunter-gatherer society is closer to that of a chimp in the wild than it is to a modern-day resident of Japan or Sweden, according to the study.
The authors wrote that the rapid improvements in human survival could only be accounted for by environmental changes, including better nutrition and medical advances; changes in the genome accumulate far too slowly to explain the progress.
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Modern humans found to be fittest ever at survival, by far
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Rise in number of Pakistanis suffering from psoriasis
Posted: at 4:22 pm
Islamabad, Oct 16 (IANS) More than five percent of Pakistanis suffer from a life-long skin disorder called psoriasis and this percentage is increasing each passing year, health experts have said.
The government was, however, neglecting the health sector, and there has been no budgetary allocation for non-communicable diseases in the 2012-13 budget, the Daily Times reported.
Psoriasis is a life-long skin disorder that causes red, scaly patches or lesions on the skin. The lesions can show up on any area of the skin. Psoriasis affects nearly three percent of the world's population.
At a conference titled "Dermato-Expert League 2012", Brig. Zafar Iqbal Sheikh, head of dermatology at the Military Hospital is Rawalpindi, said there was lack of awareness among people about psoriasis.
"The patient suffering from the disease is ignorant of the fact that he would have to continue his treatment for life. This disease is non-communicable but due to lack of knowledge, people avoid being social with psoriasis patients," Sheikh said.
The World Psoriasis Day is observed every year Oct 29.
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Rise in number of Pakistanis suffering from psoriasis
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Psoriasis nearly doubles diabetes risk
Posted: at 4:22 pm
Washington, October 16 (ANI): Researchers have found a strong correlation between psoriasis and diabetes following an analysis of 27 studies, which link the scaly skin rash and the blood sugar disorder.
UC Davis researchers led the review.
"Our investigation found a clear association between psoriasis and diabetes," said April Armstrong, assistant professor of dermatology at UC Davis and principal investigator of the study.
"Patients with psoriasis and their physicians need to be aware of the increased risk of developing diabetes so that patients can be screened regularly and benefit from early treatment," he noted.
Psoriasis is a common skin problem that tends to run in families. It causes a raised red, flaky and sometimes itchy rash, often on the elbows and knees, although it can appear anywhere. It is believed to be an autoimmune disease, in which the body regards its own skin as foreign and mounts an inflammatory response.
Armstrong and her colleagues combined data from 27 observational studies of patients with psoriasis, in what is known as a meta-analysis. Five of the studies assessed the incidence of diabetes- that is, how many patients with psoriasis developed diabetes during the course of a study, which ranged from 10 to 22 years.
The other studies assessed the prevalence of diabetes - how many patients already had diabetes at the outset of a study. Altogether, the studies evaluated more than 314,000 people with psoriasis and compared them to 3.7 million individuals (controls) without the disease.
Some of the studies classified patients by disease severity. The aggregate data for these studies showed that patients with mild psoriasis are over 1.5 times more likely to have diabetes than the general population while those with severe disease are nearly twice as likely. Among studies that assessed incidence, patients with psoriasis had a 27 percent increased risk of developing diabetes compared with the general population.
All but one study analysing incidence found a link between psoriasis and diabetes. These studies included patient data from outpatient clinics, insurance claims and hospitals. Diabetes rates were similar in patients despite ethnicity or country where the study was conducted.
"The large sample size and consistent association between psoriasis and diabetes make these study findings very strong and suggest an underlying physiological link between the two diseases," said Armstrong, who directs the Dermatology Clinical Research Unit at UC Davis and the teledermatology program.
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Psoriasis nearly doubles diabetes risk
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Two-gene test predicts which patients with heart failure respond best to beta-blocker drug
Posted: at 4:22 pm
ScienceDaily (Oct. 16, 2012) A landmark paper identifying genetic signatures that predict which patients will respond to a life-saving drug for treating congestive heart failure has been published by a research team co-led by Stephen B. Liggett, MD, of the University of South Florida.
The study, drawing upon a randomized placebo-controlled trial for the beta blocker bucindolol, appears this month in the international online journal PLoS ONE. In addition to Dr. Liggett, whose laboratory discovered and characterized the two genetic variations, Christopher O'Connor, MD, of Duke University Medical Center, and Michael Bristow, MD, PhD, of ARCA biopharma and the University of Colorado Anschutz Medical Campus, were leading members of the research team.
Dr. Stephen Liggett, who joined USF just four months ago to lead the University's Center for Personalized Medicine and Genomics, was a senior author of the paper.
The analysis led to a "genetic scorecard" for patients with congestive heart failure, a serious condition in which the heart can't pump enough blood to meet the body's needs, said Dr. Liggett, the study's co-principal investigator and the new vice dean for research and vice dean for personalized medicine and genomics at the USF Morsani College of Medicine.
"We have been studying the molecular basis of heart failure in the laboratory with a goal of finding genetic variations in a patient's DNA that alter how drugs work," Dr. Liggett said. "We took this knowledge from the lab to patients and found that we can indeed, using a two-gene test, identify individuals with heart failure who will not respond to bucindolol and those who have an especially favorable treatment response. We also identified those who will have an intermediate level of response." The research has implications for clinical practice, because the genetic test could theoretically be used to target the beta blocker to patients the drug is likely to help. Equally important, its use could be avoided in patients with no likelihood of benefit, who could then be spared potential drug side effects. Prospective studies are needed to confirm that bucindolol would be a better treatment than other classes of beta blockers for a subset of patients with health failure.
Dr. Liggett collaborated with medical centers across the United States, including the NASDAq-listed biotech company ARCA biopharma, which he co-founded in Denver, CO. This genetic sub-study involved 1,040 patients who participated in the Beta-Blocker Evaluation of Survival Trial (BEST). The researchers analyzed mortality, hospital admissions for heart failure exacerbations and other clinical outcome indicators of drug performance.
"The results showed that the choice of the best drug for a given patient, made the first time without a trial-and-error period, can be accomplished using this two-gene test," Dr. Liggett said.
The genetic test discovered by the Liggett team requires less than 1/100th of a teaspoon of blood drawn from a patient, from which DNA is isolated. DNA is highly stable when frozen, so a single blood draw will suffice for many decades, Dr. Liggett said. And since a patient's DNA does not change over their lifetime, as new discoveries are made and other tests need to be run, it would not be necessary to give another blood sample, he added.
This is part of the strategy for the USF Center for Personalized Medicine and Genomics. The discovery of genetic variations in diseases can be targeted to predict three new types of information: who will get a disease, how the disease will progress, and the best drug to use for treatment.
"In the not too distant future, such tests will become routine, and patient outcomes, and the efficiency and cost of medical care will be impacted in positive ways. We also will move toward an era where we embrace the fact that one drug does not fit all," Dr. Liggett said. "If we can identify by straightforward tests which drug is best for which patient, drugs that work with certain smaller populations can be brought to the market, filling a somewhat empty pipeline of new drugs."
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Two-gene test predicts which patients with heart failure respond best to beta-blocker drug
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2-gene test predicts which patients with heart failure respond best to beta-blocker drug
Posted: at 4:22 pm
Public release date: 16-Oct-2012 [ | E-mail | Share ]
Contact: Anne DeLotto Baier abaier@health.usf.edu 813-974-3303 University of South Florida (USF Health)
Tampa, FL (Oct. 16, 2012) -- A landmark paper identifying genetic signatures that predict which patients will respond to a life-saving drug for treating congestive heart failure has been published by a research team co-led by Stephen B. Liggett, MD, of the University of South Florida.
The study, drawing upon a randomized placebo-controlled trial for the beta blocker bucindolol, apprears this month in the online international journal PLoS ONE. In addition to Dr. Liggett, whose laboratory discovered and characterized the two genetic variations, Christopher O'Connor, MD, of Duke University Medical Center, and Michael Bristow, MD, PhD, of ARCA biopharma and the University of Colorado Anschutz Medical Campus, were leading members of the research team.
The analysis led to a "genetic scorecard" for patients with congestive heart failure, a serious condition in which the heart can't pump enough blood to meet the body's needs, said Dr. Liggett, the study's co-principal investigator and the new vice dean for research and vice dean for personalized medicine and genomics at the USF Morsani College of Medicine.
"We have been studying the molecular basis of heart failure in the laboratory with a goal of finding genetic variations in a patient's DNA that alter how drugs work," Dr. Liggett said. "We took this knowledge from the lab to patients and found that we can indeed, using a two-gene test, identify individuals with heart failure who will not respond to bucindolol and those who have an especially favorable treatment response. We also identified those who will have an intermediate level of response."
The research has implications for clinical practice, because the genetic test could theoretically be used to target the beta blocker to patients the drug is likely to help. Equally important, its use could be avoided in patients with no likelihood of benefit, who could then be spared potential drug side effects. Prospective studies are needed to confirm that bucindolol would be a better treatment than other classes of beta blockers for a subset of patients with health failure.
Dr. Liggett collaborated with medical centers across the United States, including the NASDAq-listed biotech company ARCA biopharma, which he co-founded in Denver, CO. This genetic sub-study involved 1,040 patients who participated in the Beta-Blocker Evaluation of Survival Trial (BEST). The researchers analyzed mortality, hospital admissions for heart failure exacerbations and other clinical outcome indicators of drug performance.
"The results showed that the choice of the best drug for a given patient, made the first time without a trial-and-error period, can be accomplished using this two-gene test," Dr. Liggett said.
The genetic test discovered by the Liggett team requires less than 1/100th of a teaspoon of blood drawn from a patient, from which DNA is isolated. DNA is highly stable when frozen, so a single blood draw will suffice for many decades, Dr. Liggett said. And since a patient's DNA does not change over their lifetime, as new discoveries are made and other tests need to be run, it would not be necessary to give another blood sample, he added.
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2-gene test predicts which patients with heart failure respond best to beta-blocker drug
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