Category Archives: Transhuman News

The case of a young girl who frequently got sick from colds has helped scientists pinpoint a rare genetic mutation that makes people more susceptible to cold viruses.

The 5-year-old girl has suffered numerous life-threatening infections from human rhinoviruses, which cause the common cold, according to a new report. When she was just over 1 month old, she developed an infection with both a rhinovirus and a flu virus, and had to be placed on a ventilator so she could breathe. Since then, she has been hospitalized more than 15 times with various respiratory infections, including colds, the flu and bacterial pneumonia, according to the report, from researchers at the U.S. National Institute of Allergy and Infectious Diseases (NIAID).

Because of these frequent infections, her doctors suspected her immune system was not functioning properly, and they sequenced her genome to see if they could find a genetic explanation for her symptoms. [27 Oddest Medical Cases]

They found she had a mutation in a gene called IFIH1, which is involved in the production of immune- system proteins called MDA5. Normally, MDA5 proteins help detect the presence of viruses inside cells and signal the activation of other immune-system proteins to fight the infection, the researchers said.

But in earlier studies in mice, scientists had found that animals that lack working MDA5 proteins could not detect certain viruses and were thus not able to activate an immune response against these viruses.

In the new study, the researchers found that the girl's MDA5 proteins did not recognize rhinoviruses. This meant that rhinoviruses could continue replicating at high levels and lead to severe illness. The researchers concluded the working MDA5 proteins are critical to protecting people from rhinoviruses.

"The human immune response to common cold viruses is poorly understood," Dr. Anthony Fauci, director of the NIAID, said in a statement. "By investigating this unique case, our researchers not only helped this child but also helped answer some important scientific questions about these ubiquitous infections that affect nearly everyone."

The researchers also turned to a database containing information from the genomes of more than 60,000 people to see whether there were other cases of health problems related the IFIH1 gene. They found several different mutations in the IFIH1 gene that could lead to less effective MDA5 proteins, although these mutations were rare.

In addition, most people with these IFIH1 mutations lived normal life spans (the earliest death was at age 81), and they had healthy children. The researchers suspect that these people may have had other genetic factors that compensated for their improperly working MDA5 proteins and kept them from catching life-threatening colds; or they survived despite experiencing frequent colds, but did not report those colds.

Although most people who get sick with a cold recover without a doctor's visit, some people can experience serious complications from colds, particularly if they have asthma, chronic obstructive pulmonary disease or other health problems, the researchers said. The findings may one day lead to new ways to treat patients with severe illness from rhinoviruses who also have MDA5 proteins that aren't working properly, they said.

"When people have other disease factors, [rhinovirus] infection can become a tipping point and lead to severe illness, disability or even death," said study co-author Dr. Helen Su, chief of the Human Immunological Diseases Unit at NIAID. "Now that we better understand the pathway, we can investigate more targeted ways to intervene" in these cases.

The girl in the current study survived numerous respiratory infections, but still needs treatment with supplemental oxygen, the report said. Although her genetic mutation appears to increase the risk of rhinovirus infections only, other factors, such as lung injury, also might have increased her susceptibility to other respiratory viruses, including flu viruses, the researchers said.

The girl's health improved as her immune system matured and she was able to form antibodies against various viruses, which protect against infection. These antibodies partly helped to compensate for the defective MDA5 response, the researchers said.

The study was published today (June 12) in the Journal of Experimental Medicine.

Original article on Live Science.

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Rare Genetic Mutation Makes People Prone to Colds - Live Science

Two gene-editing companies are hitting back at a scientific publication that caused their stocks to plummet, calling it wrong, filled with errors, and saying it shouldnt have been published.

In separate letters sent to Nature Methods, scientists from Intellia Therapeutics and Editas Medicine criticized a report in the journal that claimed the gene-editing tool CRISPR had caused unexpected mutations in the genomes of mice and which cast a shadow over efforts to initiate human studies using the technique.

A spokesperson at Springer Nature, which publishes Nature Methods, said the organization had received a number of communications already about the paper. We are carefully considering all concerns that have been raised with us and are discussing them with the authors, the journal said.

On Twitter and elsewhere, other scientists quickly pointed out basic mistakes in the paper, including misidentifying genes, the small number of animals involved and, most seriously, that it had mislabeled normal genetic differences between animals as the result of CRISPR editing.

In our opinion the conclusions drawn from this study are unsubstantiated by the disclosed experiments, wrote Vic Myer, chief technology officer of Editas, in a letter signed by 11 other company scientists.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:Gene Editing Companies Hit Back at Paper That Criticized CRISPR

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Controversial CRISPR paper blasted by gene-editing companies Editas Medicine, Intellia Therapeutics - Genetic Literacy Project

A man showing early signs of a heart attack detected by a bot tracking his heart activity from a sensor on his wrist is picked up by a self-driving car that checks his vital signs on the way to the hospital. There, his doctors video-conference with a specialist, who assesses his symptoms through a Skype-like screen and recommends a treatment plan.

The scenario, inconceivable a generation ago, is closer than you might think. Technological advancements are ushering in a new era of health care, eroding the long-held model of hospitals and doctors offices as the physical center of the health system. The change is unfolding on many fronts, and experts say we are on the cusp of a revolution that could come within the next decade.

The growth of telemedicine (video chats with your doctor) and tools to track chronic diseases (wearable glucose-monitoring devices for diabetics) is inching us toward a time when medical care and diagnoses can be accessed from afar, and often without having to see a physician in person.

The explosion of relatively inexpensive direct-to-consumer genetic tests is allowing millions of people to learn potentially life-changing medical information about themselves without ever stepping foot in a doctors office.

And cutting-edge research in gene therapy is opening the door to the possibility of people with genetic diseases being treated much earlier in life, and being cured for longer periods of time potentially improving the quality of life for millions.

This rapidly changing landscape raises the question: Will there come a day when we wont need to go to the doctors office anymore? Will we be able to navigate the health system without coming into contact with a medical professional? And would that be good or bad?

Unit coordinator Ricky Ng does prep work for recently admitted patients and supports patient information for critical care nurses at California Pacific Medical Center's eICU hub.

Unit coordinator Ricky Ng does prep work for recently admitted...

Developers of self-driving cars are already considering including some basic inward-facing sensors that can be used for medical applications such as those that can measure temperature or cameras that can visually assess the health of a passenger to aid the elderly and people with disabilities, according to Nidhi Kalra, senior information scientist at the think tank Rand Corp. who researches autonomous car policy.

Unit coordinator Ricky Ng (left) talks with critical care nurse Clark Wurth at California Pacific Medical Centers eICU hub, where off-site ICU patients are monitored on computers.

Unit coordinator Ricky Ng (left) talks with critical care nurse...

Some people may have health complaints or challenges that the car needs to be aware of as its taking them to the mall, she said.

Kaiser Permanente, one of the largest health systems in Northern California, recently set up a futuristic mock exam room where patients can sit in front of a computer screen to talk to a doctor remotely while using a stethoscope, digital thermometer and otoscope to check their own symptoms under the guidance of the physician. Kaiser CEO Bernard Tyson has personally participated in the experiment.

That is the future being able to provide a great health care service without someone having to get up and go all the way across town for that kind of medical visit, Tyson said. All these things represent the moving away from the hospital being the centerpiece of health care.

Critical care nurse Karen Laberge monitors vitals of present ICU patients at California Pacific Medical Center's eICU hub.

Critical care nurse Karen Laberge monitors vitals of present ICU...

Last year, 70 million interactions between Kaiser patients and their primary care doctor were done by secure email, video conference and other remote tools.

Worldwide revenue for telehealth devices and services is expected to hit $4.5 billion next year, compared to $441 million in 2013, according to the business analytics firm IHS Technology. During the same period, the number of people using telehealth services each year is projected to grow from 350,000 to 7 million.

I dont think well get to a point where well never see a doctor, but a large percentage (of doctors) will be seeing patients remotely in the future, said Dr. David Tong, director of the telestroke program at California Pacific Medical Center in San Francisco. His program connects his vascular neurology practice with 20 other hospitals from the Oregon border to Visalia, so hospital physicians can seek his help in treating a stroke patient. Tong does a visual assessment of the patients using technology similar to Skype.

Tong has led the program since its inception a decade ago, when just two hospitals were in the telestroke network, and the concept of talking to a doctor through a screen seemed foreign to many patients. Today, its commonplace People think, If I do this all the time with my friends, Ill do it with my doctors too. Whats the difference? Tong said.

Despite the promise of remote medical care, though, many traditional barriers to health care remain. Wealth, geography and access to insurance are privileges that no app or technological advancement can replace.

The major stumbling block right now is financial, said Tong. Right now, most insurance doesnt pay for telemedicine in a very efficient way. That blocks some people from doing it.

Medicare and Medi-Cal, for example, limit their reimbursement for telemedicine services to psychiatry and to patients who live in rural areas, Tong said.

There may also be drawbacks to receiving care remotely, which reduces the need for physical interaction. Studies have shown that human touch reduces stress, helps premature babies grow faster and improves the lives of nursing home residents.

A patient's chest x-rays shown on a monitor at California Pacific Medical Center's eICU hub.

A patient's chest x-rays shown on a monitor at California Pacific...

But in another promising development, medicine is also moving in the direction of preventing diseases before they even cause any symptoms. Efforts by genetic testing firms to screen large populations coupled with research in gene therapy and gene editing will give people more information than ever before on their genetic makeup.

As soon as five years from now, everyone who wants to be sequenced will have been sequenced, said Dr. Jill Hagenkord, chief medical officer at Color Genomics, a Burlingame company that sells a $249 test that analyzes 30 genes associated with common hereditary cancers including breast, ovarian and pancreatic cancer. People can buy the test directly from Color or on Amazon, but they must submit their health information and have a physician review it and order the test before Color will analyze the sample.

Whether thats newborn screening in the hospital system or in a research setting ... sequencing data will just exist, Hagenkord said.

Color is already taking steps toward population screening, working with 40 large self-insured employers including Visa and Salesforce which collectively cover tens of thousands of people that subsidize or pay for the test for employees and spouses.

Using gene testing as a preventive tool doesnt take the medical professional out of the equation, but maybe youll just have a conversation earlier with your doctor, about getting a colonoscopy sooner or making choices that may reduce your risk of certain cancers, Hagenkord said.

Meanwhile, researchers are working to bring gene therapy from the clinical trial stage to the real world to treat retinal disease and hemophilia though treatments are not yet available commercially, said Dr. Chris Haskell, who leads Bayer Corp.s West Coast Innovation Center. Bayer has a joint venture with CRISPR Therapeutics which uses the gene-editing tool known as CRISPR to develop and market therapeutics for blood disorders, blindness and congenital heart disease.

With gene therapies, the industry is moving ahead very rapidly in clinical development toward bringing these to patients very soon, Haskell said. Gene editing is still a number of years away behind gene therapy, but has promise for being able to treat many more diseases.

Gene editing is considered a subset of gene therapy. Gene therapy consists of adding a missing part of a persons DNA, typically through an injection of an engineered virus that carries the replacement gene. With the blood-clotting disorder hemophilia A, patients are missing a blood-clotting protein called factor VIII. This protein is injected and, over the course of the next several days or weeks, the cells start producing the clotting factor and allow the circulatory system to clot normally.

The trailblazing is happening with hemophilia because we understand the disease, Haskell said. But theres a huge promise for bringing therapies to patients around the world, especially kids with metabolic disorders who have no good therapy.

Gene editing makes it possible to modify the genetic code and the applications seem limitless.

This opens up a whole new realm of ways to treat diseases in that we can turn things on and off, take things out, Haskell said. With gene therapy, we have the hammer. Now we have the whole toolbox. However, were still learning how to use all these tools.

And the workshop for those tools? It will be anywhere but your old, familiar doctors office.

Catherine Ho is a San Francisco Chronicle staff writer. Email: cho@sfchronicle.com Twitter: @Cat__Ho

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Why doctors' offices could become obsolete - San Francisco Chronicle

National Institutes of Health (press release)

NIAID scientists discover rare genetic susceptibility to common cold ... National Institutes of Health (press release) Scientists have identified a rare genetic mutation that results in a markedly increased susceptibility to infection by human rhinoviruses (HRVs) the main ... and more »

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NIAID scientists discover rare genetic susceptibility to common cold ... - National Institutes of Health (press release)

The artificial intelligence that can blow human pilots out of the sky in air-to-air combat accurately predicted treatment outcomes for bipolar disorder, according to a new medical study by the University of Cincinnati. The findings open a world of possibility for using AI, or machine learning, to treat disease, researchers said. David Fleck, an associate professor at the UC College of Medicine, and his co-authors used artificial intelligence called genetic fuzzy trees to predict how bipolar patients would respond to lithium. Bipolar disorder, depicted in the TV show Homeland and the Oscar-winning Silver Linings Playbook, affects as many as 6 million adults in the United States or four percent of the adult population in a given year. In psychiatry, treatment of bipolar disorder is as much an art as a science, Fleck said. Patients are fluctuating between periods of mania and depression. Treatments will change during those periods. Its really difficult to treat them appropriately during stages of the illness.

The study authors found that even the best of eight common models used in treating bipolar disorder predicted who would respond to lithium treatment with 75 percent accuracy. By comparison, the model UC researchers developed using AI predicted how patients would respond to lithium 100 percent of the time. Even more impressively, the UC model predicted the actual reduction in manic symptoms after lithium treatment with 92 percent accuracy. The study authors found that even the best of the eight most common treatments was only effective half the time. But the model UC researchers developed using AI predicted how patients would respond to lithium treatment with 88 percent accuracy and 80 percent accuracy in validation. It turns out that the same kind of artificial intelligence that outmaneuvered Air Force pilots last year in simulation after simulation at Wright-Patterson Air Force Base is equally adept at making beneficial decisions that can help doctors treat disease. The findings were published this month in the journal Bipolar Disorders. What this shows is that an effort funded for aerospace is a game-changer for the field of medicine. And that is awesome, said Kelly Cohen, a professor in UCs College of Engineering and Applied Science. Cohens doctoral graduate Nicholas Ernest is founder of the company Psibernetix, Inc., an artificial intelligence development and consultation company. Psibernetix is working on applications such as air-to-air combat, cybersecurity and predictive analytics. Ernests fuzzy logic algorithm is able to sort vast possibilities to arrive at the best choices in literally the blink of an eye. Normally the problems our AIs solve have many, many googolplexes of possible solutions effectively infinite, study co-author Ernest said.

His team developed a genetic fuzzy logic called Alpha capable of shooting down human pilots in simulations, even when the computers aircraft intentionally was handicapped with a slower top speed and less nimble flight characteristics. The systems autonomous real-time decision-making shot down retired U.S. Air Force Col. Gene Lee in every engagement. It seemed to be aware of my intentions and reacting instantly to my changes in flight and my missile deployment, Lee said last year. It knew how to defeat the shot I was taking. It moved instantly between defensive and offensive actions as needed.

The American Institute of Aeronautics and Astronautics honored Cohen and Ernest this year for their advancement and application of artificial intelligence to large scale, meaningful and challenging aerospace-related problems. Cohen spent much of his career working with fuzzy-logic based AI in drones. He used a sabbatical from the engineering college to approach the UC College of Medicine with an idea: What if they could apply the amazing predictive power of fuzzy logic to a particularly nettlesome medical problem? Medicine and avionics have little in common. But each entails an ordered process a vast decision tree to arrive at the best choices. Fuzzy logic is a system that relies not on specific definitions but generalizations to compensate for uncertainty or statistical noise. This artificial intelligence is called genetic fuzzy because it constantly refines its answer, tossing out the lesser choices in a way analogous to the genetic processes of Darwinian natural selection. Cohen compares it to teaching a child how to recognize a chair. After seeing just a few examples, any child can identify the object people sit in as a chair, regardless of its shape, size or color. We do not require a large statistical database to learn. We figure things out. We do something similar to emulate that with fuzzy logic, Cohen said.

Cohen found a receptive audience in Fleck, who was working with UCs former Center for Imaging Research. After all, who better to tackle one of medical sciences hardest problems than a rocket scientist? Cohen, an aerospace engineer, felt up to the task. Ernest said people should not conflate the technology with its applications. The algorithm he developed is not a sentient being like the villains in the Terminator movie franchise but merely a tool, he said, albeit a powerful one with seemingly endless applications. I get emails and comments every week from would-be John Connors out there who think this will lead to the end of the world, Ernest said. Ernests company created EVE, a genetic fuzzy AI that specializes in the creation of other genetic fuzzy AIs. EVE came up with a predictive model for patient data called the LITHium Intelligent Agent or LITHIA for the bipolar study. This predictive model taps into the power of fuzzy logic to allow you to make a more informed decision, Ernest said. And unlike other types of AI, fuzzy logic can describe in simple language why it made its choices, he said. The researchers teamed up with Dr. Caleb Adler, the UC Department of Psychiatry and Behavioral Neuroscience vice chairman of clinical research, to examine bipolar disorder, a common, recurrent and often lifelong illness. Despite the prevalence of mood disorders, their causes are poorly understood, Adler said. Really, its a black box, Adler said. We diagnose someone with bipolar disorder. Thats a description of their symptoms. But that doesnt mean everyone has the same underlying causes. Selecting the appropriate treatment can be equally tricky. Over the past 15 years there has been an explosion of treatments for mania. We have more options. But we dont know who is going to respond to what, Adler said. If we could predict who would respond better to treatment, you would save time and consequences. With appropriate care, bipolar disorder is a manageable chronic illness for patients whose lives can return to normal, he said.

UCs new study, funded in part by a grant from the National Institute of Mental Health, identified 20 patients who were prescribed lithium for eight weeks to treat a manic episode. Fifteen of the 20 patients responded well to the treatment. The algorithm used an analysis of two types of patient brain scans, among other data, to predict with 100 percent accuracy which patients responded well and which didnt. And the algorithm also predicted the reductions in symptoms at eight weeks, an achievement made even more impressive by the fact that only objective biological data were used for prediction rather than subjective opinions from experienced physicians. This is a huge first step and ultimately something that will be very important to psychiatry and across medicine, Adler said. How much potential does this have to revolutionize medicine? I think its unlimited, Fleck said. Its a good result. The best way to validate it is to get a new cohort of individuals and apply their data to the system. Cohen is less reserved in his enthusiasm. He said the model could help personalize medicine to individual patients like never before, making health care both safer and more affordable. Fewer side-effects means fewer hospital visits, less secondary medication and better treatments. Now the UC researchers and Psibernetix are working on a new study applying fuzzy logic to diagnosing and treating concussions, another condition that has bedeviled doctors. The impact on society could be profound, Cohen said.

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AI that Can Shoot Down Fighter Planes Helps Treat Bipolar Disorder - Laboratory Equipment