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Monthly Archives: June 2017
How Genetic Engineering Fixed My Stupid Back – PCMag
Posted: June 23, 2017 at 5:50 am
Decades worth of the genetic research helped create the treatments that finally cured my back.
Around the age of 15, I began experiencing periodic bolts of searing pain shooting down the outer sides of my legs and up through my shoulder blades. The pain would occasionally grow so debilitating that I was forced to walk with a cane and could barely manage a flight of stairs. For sleepless months at a time, I would limp and grimace through my day. The worst part was that doctor after doctor was not able to diagnose the problem, and I resigned myself to a life of making the best of it.
Once I hit my mid-30s, I couldn't take it anymore and decided I had to do something about it. I tasked myself to keep seeing doctors until somebody could tell me what the problem was. After plowing through a series of specialists, I eventually found my way to a rheumatologist who diagnosed me with an inflammatory condition, which isn't exactly fully understood by science, called Ankylosing spondylitis (spells just like it sounds).
Now, this condition can be treated somewhat with a special diet (please don't send me any info on the subjectI know), but the food restrictions are pretty harsh and results in my case weren't always consistent. But as it turns out, modern science has another fix.
My rheumatologist recommended that I begin a regimen of a type of medicine known as a biologic (or sometimes a "biopharmaceutical"), which is seeped directly from living organisms. I put a lot of trust in science and technology's ability to make the world a better place, so I was open to seeing what this cutting-edge treatment could do for me.
And I am happy to say that after a month or so, the treatments workedin fact, they worked far better than I could have possibly imagined. I've been almost totally pain-free for the past two years and even taken up running. (I should note that the medication I was on came with some serious potential side effectsmost notably, they decrease your body's immune system, including the ability to fight certain cancers. Just speaking for me, the trade-off was worth it.)
Now, this medication was unlike any other I had takenI had to inject it. Most second-generation biologics used to fight inflammatory conditions have to be introduced directly into the body through a syringe or via an IV. I had to learn to use a disposable epi-pen like contraption, which I keep stored in my refrigerator. There was a learning curve, but not a sharp one (and it certainly helped that I am not at all squeamish when it comes to needles).
So, what is this magic goop I inject into my body? It comes from natural sources, but at the same timethere's really anything natural about it.
Scientists have been deriving medicines from living organisms since foreverjust about every vaccine you've taken can be considered a biologic. However, the scope of these medicines have boomed in recent years with the advent of genetic-manipulation techniques.
While the exact definition of "biologic" varies from regulatory body to regulatory body, the term is often used today to refer to newer classes of drugs resulting from techniques that tweak cells at their fundamental genetic level to turn them into living factories.
According to the FDA's own description, "In contrast to most drugs that are chemically synthesized and their structure is known, most biologics are complex mixtures that are not easily identified or characterized." Many of these second-generation biologics (ones that have popped up in the past 15 years or so, as opposed the first-gen ones like vaccines) are not recreatableby humans. We just don't know how. However, scientists can use modern genetic-manipulation techniques to cajole living cell cultures to do it for them. Therein lies a wrinkle to the biologic storythey can be insanely expensive.
The manufacturing of these medicines is a complex undertakingparticularly on an industrial scale. Not only is there gene manipulation, but the cellular cultures are particularly susceptible to contamination and must be maintained under very aseptic and strictly temperature-controlled environmentsall of which must take place under the supervision of a highly trained workforce. When you consider that the patient pools are relatively small, prices inevitably rise.
I can only speak for myself and say that these drugs have been a godsend and truly improved my quality of life. But I'm also fascinated (and even humbled) to consider how this treatment would not be possible without decades of scientific inquiry that took place before it.
The line of scientific historydown through Darwin, Mendel, and the team of Watson & Crickhad no idea it would one day help a middle-aged tech blogger not have to limp in pain for months at a time. They all just wanted to know the answers to weird and impractical questions.
This is why I get annoyed when I hear politicians wanting to balance budgets on the backs of scientific research. While there are ways to best use research dollars, their benefit is invaluablejust not always immediately (quantum physics took decades to find a use in the function of smartphones, as it took years for Einstein's theories to be used in satellite configuration).
There is no way we can predict how the impractical research of today will affect some major breakthrough years down the line. That's why we should all want our tax dollars to fund inquiry into weird, unnecessary questions like "do gravitons exist?," "what does Pluto look like?," or "is the whole universe a hologram?" Answering those questions might not necessarily bring us a new breakthrough todayin fact, they probably won't. But they leave us with the promise that they will someday.
Evan Dashevsky is a features editor with PCMag and host of our live interview series The Convo. He can usually be found listening to blisteringly loud noises on his headphones while exploring the nexus between tech, culture, and politics. Follow his thought sneezes over on the Twitter (@haldash) and slightly more in-depth diatribin' over on the Facebook. More
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Finally, a Biofuel to Get Excited About – The American Interest
Posted: at 5:50 am
Most biofuels news is badour current national program incentivizes the production and consumption of corn-based ethanol that somehow manages to increase food prices, increase gas prices, hurt American refineries, and hurt the environment. Its a boondoggle, plain and simple.
But not all biofuels are terrible. You can distill ethanol from cellulosic crops, an option thats both green and beneficial to farmers. Scientists have also been working hard to figure out how to use algae to create oil, and as theFTreports, a team from ExxonMobil and Synthetic Genomics just made an algal breakthrough:
Scientists at Synthetic Genomics, the biotech company founded by genomics pioneer Craig Venter, used advanced genetic engineering to double the oil content of their algal strain from 20 to 40 per cent, without inhibiting its growth. The findings are published in Nature Biotechnology on Monday. []
Previous attempts to boost the oil concentration in algae an important step in biofuel production failed because the cells stopped growing when they were overloaded with lipid. The new genetic process maintains growth until 40 per cent of the biomass consists of lipid, an industrially useful level.
Did you catch that last part? Anindustrially useful level. Thats a huge step forward for what to this point has been a fringe technology under the biofuels umbrella. Its significant, too, that this technological breakthrough is coming to us courtesy of genetic engineering. Once again were seeing the enormous potential of GM technology made manifest.
This is also more egg on the face of the peak oil crowd, who just a decade ago were chiding the world for its dependence on the energy source and confidently telling us that the sky was ready to fall. It hasnt. And technologies like hydraulic fracturing, horizontal well drilling, and maybe even algal biofuels look capable of thriving for decades to come.
In the near future, though, the sooner we see corn-based ethanol discarded as the awful fuel choice that it is, the better. Perhaps algae can help it on its way.
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FDA padlocks any new human tests on Seattle Genetics’ cancer drug in the wake of more deaths – Endpoints News
Posted: at 5:50 am
Clay Siegall, CEO, Seattle Genetics
In the wake of Seattle Genetics announcement that a disturbing tilt in deaths pointed to a likely safety problem for its late-stage cancer drug vadastuximab talirine (SGN-CD33A), the FDA has stepped in to yank the IND and officially put any human testing on hold.
The biotech $SGEN reported the FDAs move in a filing with the SEC this morning.
Seattle Genetics had already hit the brakes on its R&D work on the drug three days ago, scrapping the Phase III for acute myeloid leukemia and ordering a halt to any other testing until they can get a better read on the situation. It will also have to convince regulators that the drug is safe for testing after the FDA had lifted its first clinical hold on the drug just three months ago. That first hold on its early-stage work came after four patients died.
Those deaths were linked to liver toxicity, a classic red flag on safety. But this time one of the few clues provided by Seattle Genetics is that liver toxicity did not appear to be behind the disturbing rate of deaths investigators were seeing.
Back in March the biotech reported that it was getting restarted on the clinical work after it came up with revised eligibility criteria and stopping rules for veno-occlusive disease.The FDA agreed to lift the hold only two months after it was dropped on Seattle Genetics.
With its big Immunomedics deal axed by activists and its lead clinical drug in big trouble, Seattle Genetics CEO Clay Siegall will come under heavier pressure to diversify beyond Adcetris.
News reports for those who discover, develop, and market drugs. Join 16,000+ biopharma pros who read Endpoints News articles by email every day. Free subscription.
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FDA padlocks any new human tests on Seattle Genetics' cancer drug in the wake of more deaths - Endpoints News
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Does China’s Mass Collection Of DNA Violate The Right To Privacy? – Asian Scientist Magazine
Posted: at 5:50 am
An international non-profit organization has raised concerns about Chinas mass collection of DNA data from its citizens.
Asian Scientist Newsroom | June 23, 2017 | Top News
AsianScientist (Jun. 23, 2017) - China holds the largest searchable DNA database in the world; genetic information from over 40 million individuals that is ostensibly to be used in the fight against crime. However, the way in which these data are collected and the protection given to providers leave much to be desired, according to the European Society of Human Genetics (ESHG).
There is growing evidence that DNA is being collected from ordinary individuals who have not been convicted nor even suspected of a crime, and that this collection is compulsory. Police have also taken samples from groups that are already under increased government surveillance, such as dissidents, migrant workers and ethnic minorities, said Professor Martina Cornel, chair of the ESHG Public and Professional Policy Committee.
Because police powers in China are so extensive and people have little right to privacy, they are unable to refuse to provide such personal data.
People who have been compelled to provide DNA have reported their experiences via social media. Collections are made by police at their workplaces, homes and schools, with no prior notice and without the presentation of any official document justifying the taking of samples. Some people have also been asked to provide DNA samples when applying for documents such as residency permits from the police.
In Xinjiang, a province that is home to around ten million Muslim Uyghurs, an ethnic group already suffering state repression, all passport applicants are now required to provide DNA samples, irrespective of whether or not they are suspects in a criminal case.
This is in total contradiction to all existing regulations and safeguards concerning the collection of DNA samples from individuals, said Cornel.
We know that such databases can be used for government surveillance, including identification of relatives. Collection of DNA without the subjects full, informed consent can only be justified in extremely limited circumstances, for example in order to solve a very serious crime. A collection of samples from individuals where no such consent has been given has been ruled illegal by many international bodies, and the very existence of such a database is dangerous.
ESHG calls on the Chinese government to follow in the footsteps of all responsible authorities and ensure that human DNA is collected only from individuals suspected of having committed serious crimes, and that informed consent is given whenever possible.
Source: European Society of Human Genetics; Photo: Shutterstock. Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff.
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DNA nanomachines can transmit information – Cosmos
Posted: at 5:49 am
One of the DNA nanomachines and the shapes it can switch between.
Song et al.
DNA-based computers are one step closer to full realisation following the creation of simple DNA machines that can switch between two shapes with only a single trigger.
The switching ability, which is fully reversible, means that information is being relayed at a molecular level transferred between DNA structural units in a manner than is both self-sustaining and controllable.
Lead researcher Yonggang Ke of the Wallace H. Coulter Department of Biomedical Engineering at Georgia Tech, US, says the micromachines can be used to either relay specific pieces of information through a DNA-constructed system, or to amplify a signal emanating from another part of it.
In the field of DNA-based computing, the DNA contains the information, but the molecules are floating around in solution, Ke says.
Whats new here is that we are linking the parts together in a physical machine.
Ke and colleagues constructed two different nanomachines, each comprising a number of artificial DNA double helixes stacked on each other, in two orientations, providing strength and stability.
The completed design looks rather like an accordion, or a foldable trellis.
One extra strand at the edge of each machine is attached, and functions as a trigger. When activated it compels the first DNA strand of the machine array to contract (or expand, depending on its initial state). This in turn transfers energy to the next strand, causing it to move in the same way, and so on, a little like dominoes falling.
The machines, fully built, are just a few hundred nanometres long slightly smaller than an influenza virus. To see them, Ke and colleagues used a powerful imaging technique known as atomic force microscopy.
Constructing machines on a nanometric scale would seem to require some impossibly fine hand-eye coordination on the part of the molecular engineers, but the compulsion of DNAs chemical structures to automatically bond means that, in solution, they seek out the complimentary strands of their neighbours, making construction a guided, rather than mechanical, process.
Although the machines built by Ke and his colleagues are very simple, they provide a powerful pathway towards construction of more complex structures. In research published in the journal Science, the team include blueprints for rectangles, cubes and tubes built by the same process.
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Use of force may be applied to collect DNA samples from inmates … – Beatrice Daily Sun
Posted: at 5:49 am
A Lincoln judge has given the OK for the Nebraska Department of Correctional Services to use reasonable force to collect DNA from an inmate refusing to give it voluntarily.
It was the fifth time the state prison system had sought permission to use force to get DNA samples from the 78 inmates who still hadn't provided it to prison staff as of February.
The other motions were in Omaha cases. One since has led to new charges against Brandon Weathers in connection to serial rapes of four women in 2002 and 2004.
DNA can be an important tool used to solve crimes or lead to suspects.
The Nebraska Attorney General's office recently asked a Lincoln judge for an order to allow a Phoenix police officer to get an additional DNA sample from an inmate at the Nebraska State Penitentiary.
After the inmate went to prison in September for a sex assault in Douglas County, his DNA sample was collected.
In December, the Nebraska State Patrol Crime Laboratory matched his DNA, which was uploaded into the Combined DNA Index System, to DNA on a toothbrush taken from a Phoenix home in 2010 by investigators looking into the homicide of a man who had been shot dead in a car outside, according to court records.
State law says a person who had been convicted of a felony or other specified offense as of July 15, 2010, who did not have a sample in the state DNA Sample Bank, was required to have one collected at his or her own expense. The law also applied to people already serving a sentence.
Still, some inmates refused to comply.
In the Lincoln case, Assistant Nebraska Attorney General Kale Burdick said prison employees notified Reuben J. Reyes of his obligation to provide his DNA in April 2013, about two months after he went to prison, and again this May.
Reyes refused, Burdick said in the motion filed June 14.
The same day, Lancaster County District Judge Lori Maret authorized the use of force to get it from the man serving a 20- to 25-year sentence for attempted first-degree assault and use of a firearm to commit a felony for pointing a .380 handgun at his cousin and firing once into the air, then twice more in his cousin's direction, in 2012.
Lincoln police said one of the rounds hit an apartment building. Another hit a car.
Reyes later pleaded no contest.
By Monday, state prisons spokeswoman Dawn-Renee Smith said the number of inmates who hadn't provided DNA was down to six.
She said she couldn't provide a list of the inmates' names because the information is related to their conduct in prison and protected by state statute.
Earlier this month, Corrections Director Scott Frakes said he is committed to collecting DNA samples from every incarcerated person to be in full compliance with state statute.
By policy, inmates who have not provided a DNA sample are ordered to submit it monthly and get written up for each refusal. Misconduct reports that result are referred to the institutional disciplinary committee.
Repeated refusals can lead to up to 90 days of lost good time.
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Brain-Invading Tapeworm That Eluded Doctors Spotted by New DNA Test – Scientific American
Posted: at 5:49 am
Doctors at Zuckerberg San Francisco General Hospital could not figure out what was wrong with the 29-year-old man sitting before them. An otherwise healthy construction worker from Nicaragua, the patient was suffering from a splitting headache, double vision and ringing in his ears. Part of his face was also numb. The cause could have been anythingfrom an infection to a stroke, a tumor or some kind of autoimmune disease. The Emergency Department (ED) staff took a magnetic resonance imaging scan of the mans brain, performed a spinal tap and completed a series of other tests that did not turn up any obvious reason for the swelling in his braina condition that is formally known as encephalitis.
Most likely, it was some kind of infection. But what kind? Nineteen standard tests are available to help clinicians try to pin down the source of encephalitis, but they test for the presence of only the most common infections; more than 60 percent of cases go unsolved each year. Physicians looked in the patients cerebrospinal fluid (which surrounds the brain and protects it) for evidence of Lyme disease, syphilis and valley fever, among other things. Nothing matched. So the S.F. General ED staff settled on the most likely culprit as a diagnosis: a form of tuberculosis (TB) that causes brain inflammation but cannot always be detected with typical tests. Doctors gave the man a prescription for some steroids to reduce the swelling plus some anti-TB drugs and sent him home.
Soon he was back, however, with the same symptoms. This time the physicians assumed the man, whose life was chaotic, had not been taking his drugs properly. (Even people with regular jobs and schedules often find taking TB medications fairly difficult.) The ED staff sent him away with another prescription but he returned again and againeven after he could prove that he was taking his medication correctly and on time. The drugs helped briefly after each visit, but the symptoms always returned. During that year his medical bills reached $580,000. Finally, S.F. General turned to an experimental test that is designed to uncover the source of virtually any neurological infection.
The test is the brainchild of researchers at the nearby University of California, San Francisco, led by neurologist Michael Wilson, biochemist Joseph DeRisi and infectious disease expert Charles Chiu. The group uses genetic-sequencing technology to identify mystery illnesses in people with encephalitis or meningitis (inflammation of the meninges, the membranes around the brain and spinal cord). This so-called metagenomic test analyzes all the DNA and RNA found in a sample of cerebrospinal fluid (meta means beyond in Greek). So any DNA or RNA that does not belong to the patientincluding that from viruses, bacteria, parasites or fungishows up in the results.
Done correctly, metagenomic testing could radically change the way infections of the brain are diagnosed. An element of circular logic underlies most standard infectious disease tests. Doctors order individual tests for each bug they suspect might be causing the problem. But how do they know what is causing the problem if they have not yet done the test? Metagenomic sequencing, in contrast, casts the broadest possible net, which allows it to pick up unexpected or previously unknown pathogens. Were looking at everything at once, which has the potential of replacing the myriad of lab tests with a single test, Chiu says.
The U.C. San Francisco team ran a sample of the mans cerebrospinal fluid through their investigative diagnostic procedure. Thats when we found the worm, Wilson says. Genetic sequencing and analysis revealed DNA from the kind of tapeworm found in pigs. The patient did not get better on TB drugs because he did not have TBhe had tapeworms living in his brain.
In Nicaragua and other developing countries tapeworm infections are common, and the larvae can migrate into the braina condition called neurocysticercosis. Usually the infection causes seizures as well as large brain cysts that are obvious on an MRI. This man had neither, however, which had led the medical staff to dismiss neurocysticercosis as a possibility. When this guy first presented, they absolutely thought of it, Wilson says. But when they scanned him in his brain and spinal cord, there were no cysts. He would improve briefly, because the steroids they gave him temporarily reduced the swelling in his brain, but the TB drugs were useless, so he would soon relapse again. Now that they knew the cause, the team started him right away on anti-worm drugs, which cannot eliminate the infection but will keep it under control. Its very treatable, Wilson says. Hes doing great.
The construction worker is one of nearly 300 patients who has participated since June 2016 in a metagenomic sequencing study based at U.C. San Francisco. Participants consist of anyone who has been admitted to one of eight medical centers, mostly in California, with an apparent neurological infection and no clear diagnosis. Metagenomic sequencing is done alongside traditional testing, for a head-to-head comparison.
Wilson and colleagues hope to prove their test, which will be more widely available this summer for about $2,400, can be an efficient and reliable solution for the sorts of medical mysteries that befuddle doctors, aggravate patients and can run up huge medical bills. The challenge is in making sense of the output, Chiu says. Sequencing does not produce a yes or no answer. The group developed a standard set of procedures to make it easy for an infectious disease doctor to pinpoint what the most likely bug might be.
On July 1 the U.C. San Francisco group will begin offering this test as a custom-ordered service to a broader group of people so that hospitals and labs in the U.S., and eventually anywhere in the world, can send cerebrospinal fluid for analysis. They plan to eventually expand their metagenomic testing to include pneumonia (infection of the lungs) and sepsis (infection of the bloodstream)two other ailments that often cause diagnostic dilemmas.
A similar metagenomic test for pneumonia, developed by researchers at the University of Utah, Arup Laboratories and start-up IDbyDNA, is also expected to debut this summer. In both cases the teams first do extensive work to make it easier for physicians to understand the complex and ambiguous genomic information garnered by the test.
These two tests will be the first commercially available metagenomic tests for infection in the U.S., but they are part of a growing trend. Two academic groups in Europe recently introduced tests for sepsis. And researchers at computational geneticist Pardis Sabetis lab at Harvard University are currently running a study on a similar test for encephalitis, says Anne Piantadosi, an infectious disease physician at Massachusetts General Hospital and a postdoctoral research fellow with the Sabeti group. She envisions a time in the next few years when future clinicians will be able to look back say, That was a really big improvement in how we diagnose infections.
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FootJoy introduces DNA Helix shoe – Golf Channel
Posted: at 5:49 am
FootJoy has launched the latest version of the DNA (DryJoys Next Advancement) franchise, the DNA Helix.Featuring a wider platform and a lightweight construction to create power from the ground up, DNA Helix is available on footjoy.com and wherever FootJoy golf shoes are sold.
DNA Helix was developed based on specific feedback from the worlds best players who value the combination of flexibility and comfort but requested more platform stability, particularly in the heel area of the shoe.
Ive worn every version of DNA and this is by far the best for me, said Scott Stallings. The additional support they built in, especially laterally as I move back and through the ball, is fantastic.
The new NitroThin 3.0 TPU (thermoplastic polyurethane) outsole foundation in DNA Helix was developed to deliver the additional stability requested by Tour players. In fact, FootJoy says DNA Helix is 38 percent more stable than its predecessor. This was achieved by increasing the width between the cleat receptacles in the heel by 13 percent for more surface coverage. In addition, a new fit-bed was developed with more lateral stability and the integration of a 3D FoamCollar also helps to lock the players foot in place.
The new outsole also features strategically placed cut-outs in the TPU to expose more of the softer midsole which contributes to this outsole being 23 percent lighter than the previous version as well as being more flexible.
While it was certainly a challenge to improve upon a shoe as successful as DNA, the continued dialog we have with our Tour staff revealed there was an opportunity to improve the overall performance of the category, said Keith Duffy, Senior Product Manager, Footwear. But this isnt just an update for us. DNA Helix is a completely new golf shoe built from the ground up to deliver Tour-level performance and lightweight comfort for all players.
DNA Helix comes with a two-year waterproof warranty. Suggsted retail price is $209.99 (laced) or $239.99 (Boa System).
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Water treatment could be damaging DNA – The Hippocratic Post (blog)
Posted: at 5:49 am
Water treatment is vital to maintain human health but a method widely used in developing countries could be damaging the DNA of those drinking it. Despite poor evidence of their effectiveness as a water disinfectant, colloidal silver and silver nanoparticles are increasingly being promoted for treating potentially contaminated drinking water in low income countries.
Despite poor evidence of their effectiveness as a water disinfectant, colloidal silver and silver nanoparticles are increasingly being promoted for treating potentially contaminated drinking water in low income countries.
A study led by the University of East Anglia has concluded that there is a risk these treatments could in fact cause genotoxicity, which is damage to DNA, and affect reproduction and future generations. Prof Paul Hunter from UEAs Norwich Medical School, said the study brings together existing research to highlight the potential risks. Colloidal silver as a water treatment is sold across Africa and in countries like Haiti, despite the fact it doesnt treat water very effectively. The World Health Organization (WHO) advises against its use as a primary water treatment. If it isnt doing any good, we wanted to investigate if in fact it could be causing harm. The research looked at previous studies where the effects of silver, silver nitrate and silver nanoparticles have been measured in vivo on living animals. They found that, although results varied, more studies than they expected showed some evidence of genotoxicity, reporting effects including chromosomal aberrations, DNA fragmentation and damage to sperm. Prof Hunter said: We already know that there is little evidence that silver in water has any benefit. But this study brings together a body of work which shows it is potentially damaging DNA, and harming reproductive success. Colloidal silver is also widely marketed as an alternative health substance which can treat everything from skin complaints to bacterial and viral infections, cancer and AIDS. Again, little research exists to show any beneficial effects, but there are known side effects. One of the more obvious signs of over-exposure to silver is argyria, where the skin and hair turns a blue-grey colour.
One of the more obvious signs of over-exposure to silver is argyria, where the skin and hair turns a blue-grey colour.
WHO guidelines for drinking water quality dont currently include a value for silver in water, but indicate that a concentration of 0.1 milligrams per litre could be tolerated without risk to health. However, this was determined as a level unlikely to cause argyria, and didnt take into account potential damage to DNA. Prof Hunter said: While none of the previous studies alone are definitive, and we cant use them to determine a safe level of consumption from this review, we consider that the balance of evidence suggests there is the chance of damage to DNA. There is an urgent need for more research on this area to determine if people drinking water treated with silver have evidence of DNA damage.
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Long-read sequencing ‘illuminates’ previously inaccessible parts of … – FierceBiotech
Posted: at 5:49 am
Since the Human Genome Project concluded in 2003, genome sequencing has become cheaper and more accessible. But currenttechnology has its limitations. Now, for the first time, Stanford University researchers have used long-read, whole genome sequencing to diagnose a patient.
Sequencing a genome involves determiningthe order of nucleotide base pairs, or letters, in that individuals DNA. This is done by snippingDNA into pieces that a sequencer can read, and then using a computer to put these fragments in order.
Current short-read technology chops DNA up into words that are about 100 letters long.Long-read sequencing makes wordsthat can be thousands of letters long, said Euan Ashley, the studys senior author and a professor of cardiovascular medicine, genetics and biomedical data science at Stanford, in a statement.
This allows us to illuminate dark corners of the genome like never before, Ashley said. Cutting up DNA into smaller pieces means there are more breaks between individual segments. Some parts of the genome can be missedabout 5%of it, the researchers wrote. Any mutationsdeletions or insertionsthat exceed a certain length are undetectable with short-read sequencing.
The Stanford team used long-read sequencing to make a diagnosis for Ricky Ramon, a patient whose symptoms pointed to Carney complex, a rare genetic condition caused by mutations in the PRKAR1A gene. But short-read sequencing found no disease-causing gene variants in Ramons genome.
Carney complex is characterized by an increased risk for several types of tumors, including benign tumors in the heart. Ramon has undergone multiple surgeries to remove these tumors, called myxomas, from his heart. He is being considered for a heart transplant, but the transplant team needed a solid diagnosis to move forward.
Using long-read technology from Menlo Park, CA-based Pacific Biosciences, the Stanford team discovered a deletion of more than 2,000 base pairs in Ramons genome, confirming a diagnosis of Carney complex.
While short-read sequencing now costs less than $1,000 per genome, Ashley estimates the cost of the long-read sequencing used in this study to be between $5,000 to $6,000.
If we can get the cost of long-read sequencing down to where its accessible for everyone, I think it will be very useful, he said.
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Long-read sequencing 'illuminates' previously inaccessible parts of ... - FierceBiotech
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