An anonymous reader shares an article: There are 7,000 rare diseases affecting 25 million to 30 million Americans. The average drug approved under the Orphan Drug Act of 1983 (ODA), which governs rare disease approval, costs $118,820 per year. Assuming a similar cost, if a single drug were approved under the ODA for 10% of rare diseases, the total would exceed $350 billion annually -- more than 10 percent of the total amount that America spends on health care and much more than the health care costs attributable to either diabetes or Alzheimer's disease and other forms of dementia. If this seems far-fetched, consider the two drugs for treating Duchenne muscular dystrophy that the FDA approved in the last six months: eteplirsen, which is sold by Sarepta Therapeutics and costs $300,000 annually per patient, and deflazacort, which is sold by Marathon Pharmaceuticals and costs $89,000 annually per patient. However, approval of such costly drugs exposes an uncomfortable truth: scientific discovery has outpaced health care economics. [...] In the United Kingdom, the National Institute for Health and Care Excellence (NICE) determines the cost effectiveness, or value, of newly approved drugs based on their impact on quality-adjusted life years. These determinations inform the National Health System's (NHS) treatment-coverage decisions. In contrast, the FDA is prohibited from considering cost or value in its decision making, and there is no U.S. governmental equivalent of NICE.

Stories about the first human head transplant operation, supposedly coming in December 2017, are circulating again. From a report on the Outline: But despite what you might have read or seen, humanity is not much closer to transplanting a human head to a new body than we were last year. Sorry to disappoint anyone looking to get their head transplanted. The story is based on the work of one man: Italian neurosurgeon Sergio Canavero. Canavero started making headlines in 2013 with ambitious claims about the process he designed for a transplant of a human head -- as in, moving a healthy human head from a subject with an unhealthy body to an otherwise-healthy, brain-dead donor body. Canavero's claims have been alternately regarded as sensationalist, spurious, and ethically murky. Since then, the doctor has periodically resurfaced in the news. Once, when he found a willing patient in Valery Spiridonov, a Russian man with spinal muscular atrophy in the form of Werdnig-Hoffmann disease; other times when he published papers, including two proof-of-principle studies last year as well as articles reviewing preliminary work on animals relating to his proposed procedure. Though published in the internet-only journal Surgical Neurology International, an important distinction here is that none of these actually involve a successful full transplant of any kind despite his claim to have successfully transplanted a monkey's head. The papers addressing work with animals are, broadly speaking, about treating spinal cord injuries and issues.

An anonymous reader writes:Certified ethical hackers at Offensi.com identified a bug allowing remote code execution on one of United Airlines' sites, and submitted their findings to the airline's "bug bounty" program. After a fix was placed into production, their team was awarded 1,000,000 Mileage Plus air miles, which they say was accompanied by an email informing them that the IRS would consider their award as $20,000 of taxable income. "If after evaluating the taxable amount you choose not to accept your award, you are also able to donate your award to charity," the e-mail explained. The hackers ultimately chose to distribute their air miles among three charities -- the Ronald McDonald house, the Muscular Dystrophy Association, and the Casa de Esperanza de los Ninos Organization.
Another security researcher complained in November that United failed to close a serious vulnerability he'd identified for almost six months.

schwit1 writes with news that scientists have used a new gene-editing technique called CRISPR to treat mice with defective dystrophin genes. This is the first time that such a method has successfully treated a genetic disease inside a living mammal. The Times reports: "Three research groups, working independently of one another, reported in the journal Science that they had used the Crispr-Cas9 technique to treat mice with a defective dystrophin gene. Each group loaded the DNA-cutting system onto a virus that infected the mice's muscle cells, and excised from the gene a defective stretch of DNA known as an exon. Without the defective exon, the muscle cells made a shortened dystrophin protein that was nonetheless functional, giving all of the mice more strength."

Zothecula writes Researchers at the Stanford University School of Medicine have developed a new procedure to increase the length of human telomeres. This increases the number of times cells are able to divide, essentially making the cells many years younger. This not only has useful applications for laboratory work, but may point the way to treating various age-related disorders – or even muscular dystrophy.

An anonymous reader writes with this quote from Quanta Magazine: Most genetic research to date has focused on just 1 percent of the genome — the areas that code for proteins. But new research, published today in Science, provides an initial map for the sections of the genome that orchestrate this protein-building process. "It's one thing to have the book — the big question is how you read the book," said Brendan Frey, a computational biologist at the University of Toronto who led the new research (abstract).

For example, researchers can use the model to predict what will happen to a protein when there’s a mistake in part of the regulatory code. Mutations in splicing instructions have already been linked to diseases such as spinal muscular atrophy, a leading cause of infant death, and some forms of colorectal cancer. In the new study, researchers used the trained model to analyze genetic data from people afflicted with some of those diseases. The scientists identified some known mutations linked to these maladies, verifying that the model works. They picked out some new candidate mutations as well, most notably for autism.

One of the benefits of the model, Frey said, is that it wasn’t trained using disease data, so it should work on any disease or trait of interest. The researchers plan to make the system publicly available, which means that scientists will be able to apply it to many more diseases.

CowboyRobot writes: HTTPS has evolved into the de facto standard for secure Web browsing. Through the certificate-based authentication protocol, Web services and Internet users first authenticate one another ("shake hands") using a TLS/SSL certificate, encrypt Web communications end-to-end, and show a padlock in the browser to signal that a communication is secure. In recent years, HTTPS has become an essential technology to protect social, political, and economic activities online. At the same time, widely reported security incidents (such as DigiNotar's breach, Apple's #gotofail, and OpenSSL's Heartbleed) have exposed systemic security vulnerabilities of HTTPS to a global audience. The Edward Snowden revelations (notably around operation BULLRUN, MUSCULAR, and the lesser-known FLYING PIG program to query certificate metadata on a dragnet scale) have driven the point home that HTTPS is both a major target of government hacking and eavesdropping, as well as an effective measure against dragnet content surveillance when Internet traffic traverses global networks. HTTPS, in short, is an absolutely critical but fundamentally flawed cybersecurity technology.

An anonymous reader writes: The military and private contractors have been toying with exoskeletal combat suits for a while, but Harvard's Wyss Institute has a new take on the concept. Rather than using a hard metal frame and the massively overpowered mechanical servos necessary to move it, the Soft Exosuit is a lightweight mesh of webbing combined with a series of strain sensors and basic microprocessors. "The suit mimics the action of leg muscles and tendons when a person walks, and provides small but carefully timed assistance at the leg joints without restricting the wearer's movement." The suit continually monitors its wearer's body position, movement, and muscular strain, providing small amounts of targeted support. The team has now received $2.9 million in funding from DARPA to refine the suit's design. They say they'll be working on medical applications for the suit as well as military ones.

Nerval's Lobster writes "President Obama's 2012 re-election campaign relied on a sophisticated data-analytics platform that allowed organizers and volunteers to precisely target potential donors and voters. The centerpiece of that effort was Project Narwhal, which brought voter information—steadily accumulated since Obama's 2008 campaign—onto a single platform accessible to a growing number of campaign-related apps. The GOP has only a few short years to prepare for the next Presidential election cycle, and the party is scrambling to build an analytics system capable of competing against whatever the Democrats deploy onto the field of battle. To that end, the Republican National Committee (RNC) has launched Para Bellum Labs, modeled after a startup, to produce digital platforms for election analytics and voter engagement. Is this a genuine attempt to infuse the GOP's infrastructure with data science, or merely an attempt to show that the organization hasn't fallen behind the Democratic Party when it comes to analytics? Certainly the "Welcome to Para Bellum Labs" video posted by the RNC gives the impression of a huge office staffed with data scientists and programmers. However, the creation of a muscular digital ecosystem hinges on far more than building a couple of apps. Whatever the GOP rolls out, it'll face a tough opponent in the Democratic opposition, which will almost certainly emulate the robust IT infrastructure that the Obama campaign instituted in 2012 (not to mention Obama's massive voter and donor datasets). From that perspective, Para Bellum Labs might face the toughest job in politics."

An anonymous reader writes in with this story of confusion at the NSA due to the flood of data they harvest. "Some of the documents released by Mr. Snowden detail concerns inside the NSA about drowning in information. An internal briefing document in 2012 about foreign cellphone-location tracking by the agency said the efforts were 'outpacing our ability to ingest, process and store' data. In March 2013, some NSA analysts asked for permission to collect less data through a program called Muscular because the 'relatively small intelligence value it contains does not justify the sheer volume of collection,' another document shows. In response to questions about Mr. Binney's claims, an NSA spokeswoman says the agency is 'not collecting everything, but we do need the tools to collect intelligence on foreign adversaries who wish to do harm to the nation and its allies.'"

barlevg writes "The Washington Post reports that, according to documents obtained from Edward Snowden, through their so-called 'MUSCULAR' initiative, the National Security Agency has exploited a weakness in the transfers between data centers, which Google and others pay a premium to send over secure fiber optic cables. The leaked documents include a post-it note as part of an internal NSA Powerpoint presentation showing a diagram of Google network traffic, an arrow pointing to the Google front-end server with text reading, 'SSL Added and Removed Here' with a smiley face. When shown the sketch by The Post and asked for comment, two engineers with close ties to Google responded with strings of profanity." The Washington Post report is also summarized at SlashBI. Also in can't-trust-the-government-not-to-spy news, an anonymous reader writes: "According to recent reports, the National Security Agency collects 'one-end foreign' Internet metadata as it passes through the United States. The notion is that purely domestic communications should receive greater protection, and that ordinary Americans won't send much personal information outside the country. A researcher at Stanford put this hypothesis to the test... and found that popular U.S. websites routinely pass browsing activity to international servers. Even the House of Representatives website was sending traffic to London. When the NSA vacuums up international Internet metadata, then, it's also snooping on domestic web browsing by millions of Americans."

sciencehabit writes "It's the size of large rat, but it can reportedly withstand the weight of an adult man standing on its back. Meet the hero shrew, a molelike creature that owes its near-mythological status to a remarkable spine, thickened by extensions of bone that interlock like fingers. The structure was thought to be unique among mammals — until now. An international team of researchers in the village of Baleko, in the Democratic Republic of the Congo, made a surprising find: a slightly different shrew with a similarly 'heroic' backbone. Today in Biology Letters, they introduce Thor's hero shrew (S. thori), named for mammalogist Thorvald Holmes, but invoking the Norse god of strength. The researchers don't yet know how its strength compares to that of S. somereni. After exploring the shrews' swampy palm forests habitat, the researchers also have a new guess about why the spine evolved: They suggest that the creatures might wedge themselves between the trunk of a palm tree and the base of its leaves, then use the strength and flexion of their muscular spine to force open this crevice, revealing insect larvae—a food source that other animals can't access."

capedgirardeau writes "Caleb Kraft of the well-known Hack-A-Day site noticed that game controllers and alternate keyboards for people with physical challenges were very expensive. Simple switches for buttons that could be made for a few dollars were running $60 or $70 apiece. Working with a young man he knew who loves gaming and has muscular dystrophy, Caleb created a do-it-yourself controller for people with physical challenges using a 3-D printer, a super-cheap micro-controller board and some simple keyboard emulation software. He is freely releasing all the 3-D printer files and tutorials to make his and other controllers on a new site, The Controller Project. He also encourages people to check out The AbleGamers Foundation"

Nerval's Lobster writes "Google tried to extend its influence to televisions, an effort that largely crashed and burned. Apple executives call Apple TV a 'hobby,' although it's been long-rumored that their company has a television set in the works. And Microsoft's made a muscular attempt to conquer the living room with the Xbox, which now does a lot more than just video games. If current rumors prove correct, you can soon add Intel to that list of IT giants with an eye on televisions. According to TechCrunch and SlashGear, the chip manufacturer is prepping to unveil a first-generation television system of some sort at next month's Consumer Electronics Show in Las Vegas. TechCrunch suggests that Intel will debut the system on a city-by-city basis, similar to what Google's doing with Google Fiber, in order to maintain 'more flexibility in negotiating licensing with reluctant content providers.' (The publication's information comes from the ever-popular unnamed sources.) In essence, Intel is proposing a set-top box paired with a subscription service, which would provide a mixture of traditional programming alongside streaming content."

interval1066 writes "From the article: 'Japanese researchers said Wednesday they had used stem cells to restore partial mobility in a small monkey that had been paralysed from the neck down by a spinal injury.' This is huge news in the world of stem cell research; restoring some muscular control to a simian is a huge step. This means that stem cell therapy is a demonstrably viable path to restoring motility for millions of accident victims, palsy and ms sufferers, the list just goes on."

An anonymous reader writes "What do you do when a 15-year-old boy is close to death and ineligible for a heart transplant? If you're Dr. Antonio Amodeo you turn to an artificial solution and transplant a robotic heart, giving the boy another 20-25 years of life. The Italian boy in question suffers from Duchenne muscular dystrophy, which rapidly degenerates the muscles and eventually leads to death. Having such a disease renders the boy ineligible for a heart transplant, meaning almost certain death without an alternative solution. Dr. Amodeo found such an alternative in the form of a 90-gram, fully-robotic heart that took 10 hours to fit inside the boy's left ventricle. It is a permanent solution offering as much as 25 years of life and is powered by a battery worn as a belt."

Troll-Under-D'Bridge writes "The BBC reports that British scientists have manufactured embryos containing genetic material from a man and two women. Under the procedure developed by scientists from Newcastle University, the nuclei from a father's sperm and a mother's egg are transferred into a second woman's egg 'from which the nucleus had been removed, but which retained its mitochondria.' The research, which may 'help mothers with rare genetic disorders have healthy children,' used embryos left over from in-vitro fertilization treatment."

Ant tips the week-old news that sitting down too much is not good for you, even if you are otherwise fit. A blog at the LA Times reports a followup from Swedish exercise experts: they propose "establishing a new way of thinking about sedentary behavior. They suggest abolishing 'sedentary behavior' as a synonym for not exercising. Instead, sedentary time should be defined as 'muscular inactivity' to distinguish it from not doing any exercise at all." These experts warn that the excessively sedentary are running serious health risks, irrespective of how much exercise they get when they're not plonked behind a desk or lying on a sofa.

destinyland writes "In China's Guangdong Province there's been 'almost miraculous' progress in actually using stem cells to treat diseases such as brain injury, cerebral palsy, ataxia and other optic nerve damage, lower limb ischemia, autism, spinal muscular atrophy, and multiple sclerosis. One Chinese biotech company, Beike, is now building a 21,500 square foot stem cell storage facility and hiring professors from American universities such as Stanford. Two California families even flew their children to China for a cerebral palsy treatment that isn't available in the US. The founder of Beike is so enthusiastic, he says his company is exploring the concept of using stem cells to extend longevity beyond 120 years."

Al writes "Scientists have taken a step toward developing a cure for Duchenne muscular dystrophy (DMD) by successfully treating the condition in dogs using a novel genetic technique. The scientists used a method called exon skipping, which involves adding a genetic 'patch' to block transcription of a portion of the gene involved in DMD. This puts the remaining genetic sequence back in order, essentially creating a much less severe version of the condition. The scientists recorded some remarkable video footage showing the resulting improvements in several dogs with naturally-occurring DMD. More work is needed before the treatment can be given to humans, however, because DMD sufferers often have different genetic mutations."