Category Archives: Gene Medicine

The patent is the first that Merck, a leader in genome editing, has received for CRISPR technology. Thepatent covers chromosomal integration, or cutting of the chromosomal sequence of eukaryotic cells(such as mammalian and plant cells)and insertion of an external or donor DNA sequence into those cells using CRISPR.

"Merck has developed an incredible tool to give scientists the ability to find new treatments and cures for conditions for which there are limited options, including cancer, rare diseases and chronic conditions, such as diabetes," said Udit Batra, Member of the Merck Executive Board and CEO,Life Science. "This patent decision recognizes our expertise in CRISPR technology - a body of knowledge that we are committed to grow."

Merck has patent filings for its insertion CRISPR method in Brazil, Canada, China, Europe, India, Israel, Japan, Singapore, South Korea and the U.S.

CRISPR genome-editing technology, which allows the precise modification of chromosomes in living cells, is advancing treatment options for some of the toughest medical conditions faced today. CRISPR applications are far-ranging - from identifying genes associated with cancer and rare diseases to reversing mutations that cause blindness.

Merck has a 14-year history in the genome-editing field. It was the first company to offer custom biomolecules for genome editing globally (TargeTron RNA-guided group II introns and CompoZr zinc finger nucleases), driving adoption of these techniques by researchers all over the world. Merck was also the first company to manufacture arrayed CRISPR libraries covering the entire human genome, accelerating cures for diseases by allowing scientists to explore more questions about root causes.

With Merck's CRISPR genomic integration technology, scientists can replace a disease-associated mutation with a beneficial or functional sequence, a method important for creation of disease models and gene therapy. Additionally, scientists can use the method to insert transgenes that label endogenous proteins for visual tracking within cells.

In May 2017, Merck announced that it had developed an alternative CRISPR genome-editing method called proxy-CRISPR. Unlike other systems, Merck's proxy-CRISPR technique can cut previously unreachable cell locations, making CRISPR more efficient, flexible and specific, and giving researchers more experimental options. Merck has filed several patent applications on its proxy-CRISPR technology, and those applications are just the latest of multiple CRISPR patent filings made by the company since 2012.

In addition to basic gene-editing research, Merck supports development of gene- and cell-based therapeutics and manufactures viral vectors. In 2016, Merck launched a genome-editing initiative aimed at advancing research in novel modalities -from genome editing to gene medicine manufacturing -through a dedicated team and enhanced resources, further solidifying the company's commitment to the field.

All Merck news releases are distributed by email at the same time they become available on the Merck website. Please go to http://www.merckgroup.com/subscribe to register online, change your selection or discontinue this service.

About Merck Merck is a leading science and technology company in healthcare, life science and performance materials. Around 50,000 employees work to further develop technologies that improve and enhance life -from biopharmaceutical therapies to treat cancer or multiple sclerosis, cutting-edge systems for scientific research and production, to liquid crystals for smartphones and LCD televisions. In 2016, Merck generated sales of 15 billion in 66 countries. Founded in 1668, Merck is the world's oldest pharmaceutical and chemical company. The founding family remains the majority owner of the publicly listed corporate group. Merck holds the global rights to the"Merck"name and brand. The only exceptions are the United States and Canada, where the company operates as EMD Serono, MilliporeSigma and EMD Performance Materials.

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Merck Awarded its First CRISPR Patent by Australian Patent Office - TASS

June 13, 2017 UNC scientists discovered how the enzyme Set2 keeps gene transcription working properly when cells are under stress. Credit: Christ-claude Mowandza-ndinga

UNC School of Medicine researchers have cracked a long-standing mystery about an important enzyme found in virtually all organisms other than bacteria. The basic science finding may have implications for understanding cancer development and how to halt it.

Researchers have known that the enzyme Set2 is important for transcribing genes - the process of making strands of RNA from the DNA. Transcription is critical for making proteins and other functional molecules. But Set2's precise role in transcription hasn't been clear. Now, UNC scientists discovered that the enzyme is particularly important for keeping transcription working properly when cells are under stress. Without Set2, cells that become stressed through the lack of nutrients begin mis-transcribing genes in a way that prevents cells from adapting properly to the stress.

"We think this solves a mystery about the purpose of Set2, and we now understand much better how gene transcription is prevented from happening at the wrong place and time," said study senior author Brian Strahl, PhD, professor of biochemistry and biophysics and member of the UNC Lineberger Comprehensive Cancer Center.

Set2 enzymes in yeast and other lower organisms have close relatives in all animal species and plants. Its human cousin SETD2 is often found mutated in cancerous cells.

"These fundamental findings may help explain how SETD2 mutations could lead to inappropriate transcription within genes, which might then promote cancer initiation or progression," Strahl said. His team's research on SETD2 is ongoing.

The research, published in Cell Reports, involved collaboration between Strahl's laboratory and that of Ian J. Davis, MD, PhD, associate professor of pediatrics and genetics at the UNC School of Medicine and member of the UNC Lineberger Comprehensive Cancer Center.

The discovery comes 15 years after the first studies of Set2 by Strahl and others, who found that the enzyme works by attaching molecules known as methyl groups to a support protein - or histone - around which DNA is spooled.

This methyl-attaching process is called methylation. Research has shown in recent years that the particular histone methylation performed by Set2 serves as a quality control check on gene transcription.

Transcription of a gene should start at a precise spot at the beginning of a gene and then continue until the end in order to fully transcribe the RNA. But in the absence of histone methylation laid down by Set2, transcription begins at the wrong places in the middle of a gene instead of at the beginning. If that is allowed to happen, the production of "cryptic" RNA transcripts can then interfere with the normal expression of a gene. The mis-expression of our genetic material can result in diseases such as cancer.

Strahl's team thought Set2 might have something to do with these cryptic transcripts arising during stress. Previously, it was shown that Set2's histone-methylating activity has the effect of attracting another enzyme to clear away chemical tags in the middle of a gene that, otherwise, can lead to inappropriate new transcription from within that gene.

"But under typical laboratory conditions, the deletion of Set2 and the subsequent increase in cryptic transcripts didn't seem to harm cells very much," Strahl said.

Strahl's team then thought about cells under stress, which is what cells are like in disease states. His team conducted experiments to observe what happens in cells that don't have Set2 when vital nutrients are removed. In this stressed state, cells normally activate a complex set of gene expression programs to help cope with the reduced nutrient resources.

"Nutrient depletion more accurately mimics what yeast cells experience in the wild," Strahl said.

The scientists examined yeast cells that were deprived of nutrients, or were exposed to chemicals that reliably trigger the low-nutrient response. In these cells, not having Set2 proved to have major consequences.

"We found that this inappropriate transcription at the wrong place in genes exploded to high levels in stressed cells, and often interfered with the normal genes," Strahl said. "As a result, the normal changes in genes that help cells survive under low-nutrient conditions did not happen correctly, and the cells became extremely sick."

To Strahl and colleagues, the finding suggests that Set2 evolved to guard against harmful abnormal transcription in times of stress, when cells seem particularly vulnerable to this type of error. Why would cells be so vulnerable to cryptic transcription during the nutrient stress response? Strahl isn't sure. But his team suspects that when there's a sudden and widespread rearrangement of the molecular machinery of gene transcription, genes across the genome are left relatively open to inappropriate transcription.

"We found that a lot of the genes that show this crazy jump in cryptic transcription were not even related to the nutrient stress response," Strahl said. "It's as if there are genes throughout the genome that are just predisposed to this error, especially at this time when transcription is shifting dramatically."

Strahl and Davis and their colleagues plan further research to determine why cryptic transcription rises so dramatically during nutrient stress. They also intend to find out whether Set2 is important for safeguarding transcription during other types of cellular stress.

In addition, the scientists are now studying Set2's human counterpart, SETD2, which for unknown reasons is often mutated in tumor cells, especially in kidney cancers.

"It's possible that SETD2 normally works as a major tumor suppressor by preventing inappropriate transcription," Strahl said.

Explore further: Study pinpoints new role for enzyme in DNA repair, kidney cancer

More information: Cell Reports (2017). DOI: 10.1016/j.celrep.2017.05.057

Twelve years ago, UNC School of Medicine researcher Brian Strahl, PhD, found that a protein called Set2 plays a role in how yeast genes are expressed specifically how DNA gets transcribed into messenger RNA. Now his lab ...

The first step in gene expression is the exact copying of a segment of DNA by the enzyme known as RNA polymerase II, or pol II, into a mirror image RNA. Scientists recognize that pol II does not transcribe RNA via a smooth ...

Two opposing teams battle it out to regulate gene expression on the DNA playing field. One, the activators, keeps DNA open to enzymes that transcribe DNA into RNA. Their repressor opponents antagonize that effort by twisting ...

Clarification of how human blood vessels are constructed is desperately needed to advance regenerative medicine. A collaborative research group from Kumamoto University, Kyoto University, and the University of Tokyo in Japan ...

(Phys.org)An international team of researchers has found that gene transcription in an organism that has died continues for several days. In their paper published in the journal Royal Society Open Biology, the team describes ...

Scientists at the University of Birmingham have described a previously-unknown molecular mechanism that could lead to the genetic mutations seen in certain types of aggressive cancer cells, involving a cell's own transcription ...

There are many ways to make a living in a suitable climate but far fewer in a less suitable one. That may seem obvious for people living under various socio-economic stresses, but new research shows it also applies to the ...

Using research drones, thermal cameras and free images from Google Earth, two Duke University-led studies confirm that gray seals are making a comeback off the New England and eastern Canadian coasts.

A newly described protein could be an effective target for combatting drug-resistant malaria parasites. The protein, the transcription factor PfAP2-I, regulates a number of genes involved with the parasite's invasion of red ...

Adult females and males in a newly identified genus of Latin American praying mantises have evolved sharply different camouflage strategies, according to a Cleveland Museum of Natural History-led study published in the journal ...

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Animals living in areas where conditions are ideal for their species have less chance of evolving to cope with climate change, new research suggests.

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Researchers show how a cancer gene protects genome organization - Phys.Org

BOSTON Precision medicine holds big promise, but it's also posing big challenges for hospital labs trying to manage a huge increase in requests for genetic tests.

At the HIMSS Precision Medicine Summit on Tuesday, Patrick Mathias, associate director of laboratory medicine informatics at University of Washington, spotlighted just how complex the genetic testing boom has become for clinical technology.

Hospital laboratories are "feeling the first wave of precision medicine," said Mathias, as they're "on the front lines of coordinating high-complexity testing."

[Also:How Penn Medicine primed its IT infrastructure for precision medicine]

Many hospitals rely on having to send out tests to reference laboratory when testing is unavailable at primary lab. But that leads to IT challenges for hospitals. Most distinct tests aren't integrated into EHRs and there's a big potential for order entry errors from tests not defined in clinical information systems.

As genetic testing has evolved in complexity beyond the single-gene paradigm, the genetic testing market has become similarly complex and dynamic, he said with more than 69,100 genetic testing products on the market and as many as 10 new ones every day.

[Also:EHRs and health IT infrastructure not ready for precision medicine]

To improve the management of tests and better integrate their genetic information into workflow, Seattle Childrens Hospital which spends more than $1,000,000 annually on genetic sendout testing helped launched the Pediatric Laboratory Utilization Guidance Services, or PLUGS, a nationwide network with more 60 other hospitals and health systems, with the aim of improving ordering, retrieval, interpretation and reimbursement for genetic tests.

Along the way, within its own walls, coordination between clinical and IT staff was key, said Mathias, and demanded a nuanced approach to process improvement from both sides of the equation.

The initiative required staff at Seattle Children's to embrace workflow standardization improve the efficiency of manual sendout processes through. The hospital had to bolster lab staff expertise to improve ordering process, streamlining test comparison and get better test result management.

It also made used lab genetic counselors to improve quality and reduce costs they help spot and correct errors that could impacting patient safety, said Mathias, leading to cost savings that in turn justify the addition of more resources.

Having achieved those successes, "the challenge was how can we do that so we can scale across all health systems," said Mathias.

PLUGS enables hospital labs across to decrease testing costs and errors. Seattle Children's says network members that have implemented smart utilization management have achieved savings of 10 percent or more on their sendout testing.

Within his hospital, Mathias said clinicians and IT staff are still grappling with certain aspects of precision medicine especially making better use of testing results in clinical workflow.

"There's this foundational question of, if you want data in the workflow, there has to be some EHR integration," he said. "I don't think we've really solved that question yet.

HL7 and FHIR standards are helping, he said, but "this is the tip of the iceberg we need to lower the barrier to move usable genetic data."

But while integrating genomic data remains "an ongoing challenge," said Mathias, "we are creating actionable results today."

Twitter:@MikeMiliardHITN Email the writer: mike.miliard@himssmedia.com

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Laboratory IT systems grapple with genetic testing surge - Healthcare IT News

It may still seem like science fiction, but the ability to nip-and-tuck problematic genomes to cure disease is easier than ever and will soon be getting easier.

At the HIMSS Precision Medicine Summit on Monday, Ross Wilson, principal investigator at UC Berkeley's California Institute for Quantitative Biosciences, explained how tools such as CRISPR-Cas9 are set to transcend the confines of the lab to fundamentally change clinical care.

While there have been some intriguing recent strides made with gene editing technology, Wilson admits that so far, at least CRISPR's "hype eclipses early success stories."

But five to 10 years from now, he said, it "will come into its own and be safe and effective."

The process of fixing certain inheritable diseases by accessing the genome and fixing the root cause is clearly far more complex than the "cut-and-paste" analogies Wilson used to explain advanced precision medicine techniques to non-scientists.

But CRISPR-Cas9 is a "readily programmable genome-editing tool" that makes the process more intuitive and usable for researchers and clinicians than ever before.

[Also:How precision medicine can fix a broken healthcare system]

For an analogy, Wilson likened the use of similar techniques known as zinc-finger nucleases (ZFNs) and transcription activator-like effector nucleases (TALENs) as wheeling in an '80s-era arcade game to play Frogger or Pac-Man. CRISPR-Cas9, he said, was more akin to an easy and agile Playstation.

That said, the "future of medicine" is still some way off from full fruition. There are three key hurdles to overcome, said Wilson:

Efficacy. Although cutting out a gene can be done reliably, it's still not easy or efficient to "paste" the corrected gene.

Delivery. Researchers still lack robust and reliable technology for sending genome-editing enzymes to the cells in need of repair.

Genetic understanding. Clinicians' ability to cure disease remains hamstrung by an impressive but still too limited knowledge of the underlying genetic causes, said Wilson.

"The total scope of genome editing will be defined by our genetic understanding," he said.

There are currently three conceivable approaches to genome-editing, in order of prevalence, said Wilson: ex vivo, in vivo (systemic), in vivo (targeted).

The "earliest success stories will be ex vivo" enabling clinicians to snip and edit genomes in a petri dish with a "high-efficiency that will let you do the 'pasting' of the effective gene that's hard to do in the host," he said.

In vivo delivery essentially allowing gene editing to be done by injection, whether into the body as a whole or "compartmentalized" to specific places such as the brain or the eye is the "holy grail," said Wilson. The challenge, of course, is that it's hard to distribute effectively to the correct areas of the body.

[Also:Eric Dishman wants precision medicine to move from personal to universal]

Taken as a whole, gene editing has come a long way in recent years. Early trials have been promising for diseases such as cancer, sickle cell anemia and eye disease, he said. Soon after, "I expect to see good progress on" cystic fibrosis, Duchenne muscular dystrophy, Huntington's disease and hemophilia.

Then there are areas where "I think we'll be able to see genome editing applied to things that might be a bit more elective, but could have huge impact, since they're so common," said Wilson, such as Alzheimer's, diabetes, osteoporosis, HIV risk and cholesterol.

Still, he cautioned, "we have to wait a few years to see how safe effective this could be."

One complication for therapeutic genome editing is simply the existence of such a dizzying array of genetic diversity.

Wilson notes that it's "kind of incredible" that, of 3 billion bases in the human genome, just 3 million bases ("a fraction of a percent") of are responsible for all human diversity." Moreover, 100 to 200 bases worth of new changes arise per generation.

That means that close attention must be paid to genetic diversity and novel mutations in order to minimize the serious risks of off-target genomic editing.

Still, Wilson is convinced that genome sequencing will "come to the forefront" of primary care in the near future, with these techniques more commonly identifying genetic risk factors.

That comes with big responsibilities. Clinicians will have to design sequences to minimize off-target risks something that demands whole-genome analysis and "an established gene target will have several validated flavors of enzyme, and the appropriate one will be administered based on the patients genetic profile," he said.

Twitter: @MikeMiliardHITN

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Genome editing tools set to bring monumental change to healthcare - Healthcare IT News

June 13, 2017 by Doug Bennett Credit: CC0 Public Domain

For many patients, participating in gene therapy clinical trials isn't an option because their immune system recognizes and fights the helpful virus used for treatment. Now, University of Florida Health and University of North Carolina researchers have found a solution that may allow it to evade the body's normal immune response.

The discovery, published May 29 in the Proceedings of the National Academy of Sciences, is a crucial step in averting the immune response that prevents many people from taking part in clinical trials for various disorders, said Mavis Agbandje-McKenna, Ph.D., a professor in the University of Florida College of Medicine department of biochemistry and molecular biology and director of the Center for Structural Biology.

During gene therapy, engineered viruses are used to deliver new genes to a patient's cells. While the recombinant adeno-associated virus, or AAV, is effective at delivering its genetic cargo, prior natural exposure to AAV results in antibodies in some people. As many as 70 percent of patients have pre-existing immunity that makes them ineligible for gene therapy clinical trials, Agbandje-McKenna said.

The findings provide a road map for designing virus strains that can evade neutralizing antibodies, said Aravind Asokan, Ph.D., an associate professor in the department of genetics at the University of North Carolina, who led the study. At UF Health, the structural "footprints" where pre-existing antibodies interact with the virus were identified using cryo-electron microscope resources provided by the UF College of Medicine and the UF Office of Research's Division of Sponsored Programs. The UNC researchers then evolved new viral protein shells. Using serum from mice, rhesus monkeys and humans, the researchers showed that the redesigned virus can slip past the immune system.

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"This is the blueprint for producing AAV strains that could help more patients become eligible for human gene therapy. Now we know how to do it," Agbandje-McKenna said.

While the findings prove that one variation of AAV can be evolved, further study in preclinical models is needed before the approach can be tested in humans. Next, the immune profile of one particularly promising virus variant will need to be evaluated in a larger number of human serum samples, and dose-finding studies are needed in certain animal models. Researchers may also need to study whether the same virus-manipulating technique can be used in a broader range of gene therapy viruses, Agbandje-McKenna said.

Although human gene therapy remains an emerging field and has yet to reach patients on a wide scale, researchers elsewhere have used AAV therapy to successfully treat hemophilia, a blood-clotting disorder, in a small trial. It has also been or is now being studied as a way to treat hereditary blindness, certain immune deficiencies, neurological and metabolic disorders, and certain cancers.

The latest findings are the result of more than 10 years of studying the interactions between viruses and antibodies and a long-standing collaboration with Asokan, who heads the synthetic virology group at the UNC Gene Therapy Center, according to Agbandje-McKenna.

Explore further: Prednisone may improve effectiveness of AAV-based gene therapy by reducing immune response

More information: Longping Victor Tse et al. Structure-guided evolution of antigenically distinct adeno-associated virus variants for immune evasion, Proceedings of the National Academy of Sciences (2017). DOI: 10.1073/pnas.1704766114

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For many patients, participating in gene therapy clinical trials isn't an option because their immune system recognizes and fights the helpful virus used for treatment. Now, University of Florida Health and University of ...

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Mice have a reputation for timidity. Yet when confronted with an unfamiliar peer, a mouse may respond by rearing, chasing, grappling, and bitingand come away with altered sensitivity toward future potential threats.

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Altered virus may expand patient recruitment in human gene therapy trials - Medical Xpress

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

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

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)

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

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