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Category Archives: Gene Medicine

Researchers to develop new gene-editing method for the study of arthropods – Phys.Org

Posted: July 11, 2017 at 9:45 pm

July 11, 2017 Developing eggs in a dissected mosquito ovary into which gene-editing protein cargo (fluorescent green) has been transduced. Credit: Rasgon lab, Penn State

A grant from the National Science Foundation will enable a Penn State-led team of entomologists to develop and disseminate a technology they say could bring gene-editing capabilities within reach of everyday scientists, regardless of the arthropod species they study.

The $2.5 million award is part of NSF's Enabling Discovery through GEnomic Tools (EDGE) program, which funds projects that work to develop new genomic tools and provide the research community with information about how to use them.

The grant will support the development of a technology called Receptor-Mediated Ovary Transduction of Cargodubbed ReMOT Controlwhich was conceived in the laboratory of lead researcher Jason Rasgon, professor of entomology and disease epidemiology in Penn State's College of Agricultural Sciences.

"Genetic manipulation is a powerful technique for addressing research questions in arthropods," Rasgon said. "Current approaches rely on delivering gene-editing material to arthropod eggs by embryonic microinjection. But this process is very challenging, is limited to a small number of arthropod species, and is inefficient even in optimized species."

As a result, he said, researchers recognized a critical need to develop methods for arthropod genetic manipulation that are simple, accessible for many researchers and generally compatible for a large variety of arthropod species.

This led to the development of ReMOT Control, which can deliver gene-editing cargo to a targeted portion of the arthropod genome by easy injection into female arthropods during egg development. ReMOT Control builds on the burgeoning use of CRISPR/Cas9 technology, a revolutionary new method for delivering a gene-splicing enzyme to a region of DNA to delete or add genes controlling certain traits. CRISPR/Cas9 holds promise in solving many challenges in medicine, agriculture, and food production and processing.

With support from the NSF grant, the researchers will adapt ReMOT Control for use with specific species of arthropods, while also developing the technology for universal application among diverse species. The team will disseminate the technology by making reagents publicly available to other researchers and will educate the scientific community and the public about the benefits of these tools through workshops, social media, symposia and other outreach venues.

Rasgon contends that ReMOT Control technology and methodology will have broad application for scientists involved in research on animal behavior, animal physiology, insect-plant interactions, sustainable agriculture and public health.

"ReMOT Control will break down barriers to genetic modification, allowing researchers in diverse animal systems to move beyond correlation to accurately and precisely study gene function," Rasgon said. "Our overarching conceptual goal for this project is nothing less than the complete democratization of gene-editing capability for all researchers working in any arthropod system."

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First gene therapy ‘a true living drug’ on the cusp of FDA approval – Washington Post

Posted: at 9:45 pm

PHILADELPHIA When doctors saw the report on Bill Ludwigs bone-marrow biopsy, they thought it was a mistake and ordered the test repeated. But the results came back the same: His lethal leukemia had been wiped out by an experimental treatment never before used in humans.

We were hoping for a little improvement, remembered the 72-year-old retired New Jersey corrections officer, who had battled the disease for a decade. He and his oncologist both broke down when she delivered the good news in 2010. Nobody was hoping for zero cancer.

The pioneering therapy administered to Ludwig and a few other adults at the University of Pennsylvania hospital paved the way for clinical trials with children. Six-year-old Emily Whitehead, who was near death, became the first pediatric recipient in 2012. Like Ludwig, she remains cancer-free.

Such results are why the treatment is on track to become the first gene therapy approved by the Food and Drug Administration. An FDA advisory committee will decide Wednesday whether to recommend approval of the approach, which uses patients own genetically altered immune cells to fight blood cancers.

If the panel gives the nod, the agency probably will follow suit by the end of September. That would open the latest chapter in immunotherapy a true living drug, said Penn scientist Carl June, who led its development.

The CAR T-cell treatment, manufactured by the drug company Novartis, initially would be available only for the small number of children and young adults whose leukemia does not respond to standard care. Those patients typically have a grim prognosis, but in the pivotal trial testing the therapy in almost a dozen countries, 83percent of patients went into remission. A year later, two-thirds remained so.

And childhood leukemia is just the start for a field that has attracted intense interest in academia and industry. Kite Pharma of Santa Monica, Calif., has applied for FDA approval to treat aggressive non-Hodgkins lymphoma, and a similar Novartis application is close behind. Researchers also are exploring CAR T-cell therapys use for multiple myeloma and chronic lymphocytic leukemia, the disease that afflicted Ludwig. They are also tackling a far more difficult challenge using the therapy for solid tumors in the lungs or brain, for example.

The excitement among doctors and researchers is palpable. Were saving patients who three or four years ago we were at our wits end trying to keep alive, said Stephen Schuster, the Penn oncologist who is leading a Novartis lymphoma study. That study and a Kite trial have shown that the treatment can put about one-third of adults with advanced disease those who have exhausted all options into remission.

Yet along with the enthusiasm come pressing questions about safety, cost and the complexity of the procedure.

It involves extracting white blood cells called T cells the foot soldiers of the immune system from a patients blood, freezing them and sending them to Novartiss sprawling manufacturing plant in Morris Plains, N.J. There, a crippled HIV fragment is used to genetically modify the T cells so they can find and attack the cancer. The cells then are refrozen and sent back to be infused into the patient.

Once inside the persons body, the T-cell army multiplies astronomically.

Novartis has not disclosed the price for its therapy, but analysts are predicting $300,000 to $600,000 for a one-time infusion. Brad Loncar, whose investment fund focuses on companies that develop immunotherapy treatments, hopes the cost does not prompt a backlash. CAR-T is not the EpiPen, he said. This is truly pushing the envelope and at the cutting edge of science.

The biggest concerns, however, center on safety. The revved-up immune system becomes a potent cancer-fighting agent but also a dangerous threat to the patient. Serious side effects abound, raising concerns about broad use.

Treating patients safely is the heart of the rollout, said Stephan Grupp of Childrens Hospital of Philadelphia, who as director of the hospitals cancer immunotherapy program led early pediatric studies as well as Novartiss global trial. The efficacy takes care of itself, but safety takes a lot of attention.

One of the most common side effects is called cytokine release syndrome, which causes high fever and flulike symptoms that in some cases can be so dangerous that the patient ends up in intensive care. The other major worry is neurotoxicity, which can result in temporary confusion or potentially fatal brain swelling. Juno Therapeutics, a biotech firm in Seattle, shut down one of its CAR T-cell programs after five patients died of brain swelling. Novartis has not seen brain swelling in its trials, company officials said.

To try to ensure patient safety, Novartis is not planning a typical product rollout, with a drug pushed as widely and aggressively as possible. The company instead will designate 30to 35 medical centers to administer the treatment. Many of them took part in the clinical trial, and all have gotten extensive training by Grupp and others.

Grupp said he and his staff learned about the side effects of CAR T-cell therapy and what to do about them through terrifying experiences that began five years ago with Emily Whitehead.

The young girl, who had relapsed twice on conventional treatments for acute lymphoblastic leukemia, was in grave condition. Grupp suggested to her parents that she be the first child to get the experimental therapy.

I said, Surely, this has been tried on kids somewhere else in the world, recalled her father, Thomas Whitehead of Philipsburg, Pa. But Steve said, Nope, some adults got it, but that was a different kind of leukemia.

After she received the therapy, Emilys fever soared, her blood pressure plummeted, and she ended up in a coma and on a ventilator for two weeks in the hospitals intensive care unit. Convinced his patient would not survive another day, a frantic Grupp got rushed lab results that suggested a surge of the protein Interleukin 6 was causing her immune system to relentlessly hammer her body. Doctors decided to give Emily an immunosuppressant drug called tocilizumab.

She was dramatically better within hours. She woke up the next day, her seventh birthday. Tests showed her cancer was gone.

The approval of CAR T-cell therapy would represent the second big immunotherapy advance in less than a decade. In 2011, the FDA cleared the first agent in a new class of drugs called checkpoint inhibitors. It has approved five more since then.

There are big differences between the two approaches. The checkpoint inhibitors are targeted at solid tumors, such as advanced melanoma and lung and bladder cancer, while CAR T-cell therapy has been aimed at blood disorders. And although checkpoint inhibitors are off the shelf, with every patient getting the same drug, CAR T-cell therapy is customized to an individual. Many immunotherapy experts think the greatest progress against cancer will be achieved when researchers figure out how to combine the approaches.

For the Penn team, the CAR T-cell story goes back decades, starting at the then-National Naval Medical Center in Bethesda, Md., where June and a postdoctorate fellow named Bruce Levine worked on new HIV treatments. In the process, they figured out a way to turbocharge T cells to make them more powerful and plentiful.

The pair moved to Philadelphia in 1999 and dove into cancer research. Two years later, Junes wife died of ovarian cancer, something he has credited as spurring him to work even harder in the field. In the years that followed, researchers across the country, including at the Memorial Sloan Kettering Cancer Center in New York and Fred Hutchinson Cancer Research Center in Seattle, racked up an array of tantalizing discoveries involving T cells.

Fast-forward to 2010, when Ludwig, who lives in Bridgeton, N.J., became Penns first patient to receive CAR T-cell therapy. Two other men got the treatment not long after. One is still in remission; the other relapsed and died.

But after those three patients, the Penn researchers ran out of money for more treatments. To try to raise interest and funding, they decided to publish the results of their work. The article that appeared in the New England Journal of Medicine in August 2011 created a firestorm, June said one that brought them new resources. David Porter, a Penn oncologist working with June, was on vacation in western Maryland and had to stop at a Kohls to buy a dress shirt for the immediate TV interviews.

The pediatric trial opened the following spring with Emily. Six months later, Penn licensed its technology to Novartis in exchange for financial support, which included a new on-campus cell-manufacturing facility.

With FDA approval seeming imminent, the researchers who were so instrumental in the therapys development and testing are almost giddy. Grupp is especially pleased that the advance will be available first to children. Usually everything is developed first for adults, he noted recently, and children are an afterthought.

Read more:

This is not the end: Using immunotherapy and a genetic glitch to give cancer patients hope

This 8-year-old is free of cancer for now after a breakthrough treatment

For a 6-year-old with cancer, a future staked on medicines hottest field

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Controversial Gum Disease Risk Test Highlights Precision Medicine Marketing, Regulatory Issues – GenomeWeb

Posted: at 9:45 pm

NEW YORK (GenomeWeb) Interleukin Genetics' decision to stop selling a genetic test it claims can assess the risk of gum disease is welcome news for some experts in the field of dentistry who have long had serious concerns about the science underlying the product.

They contend that the test should have never come to market in the first place, but remained available to patients far too long because the leadership at Interleukin had influence within the dental research community, a group that is not well-enough versed in genetics to be able to parse the available data themselves.

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Gene that gets people hooked on cocaine has been identified and some are more at risk than others – Mirror.co.uk

Posted: at 9:45 pm

The gene that gets people hooked on cocaine has been found - and certain people could be more at risk than others.

Those who have an altered form of a the protein could be at higher risk of addiction, according to scientists.

The gene controls levels of the brain chemical glutamate which has been found to play a key role in drug dependence.

Rats with a mutated form of the protein, called mGluR2, produced more of the neurotransmitter - which eliminated cocaine's 'rewards'.

This is what keeps addicts wanting more opening the door to the gene could be 'packing a double punch.'

The researchers said it could act as a biomarker for screening those at risk of cocaine addiction - and as a therapeutic target for drug development.

Dr Zheng-Xiong Xi, of the US's National Institute on Drug Abuse, said: "Our work suggests that, if you could take a medicine to activate mGluR2 activity, then it would decrease or significantly inhibit both cocaine-taking and cocaine-seeking behaviours."

The study published in Cell Reports found rats that can't control glutamate were more likely to kick the habit once addicted.

This suggests the gene, which protects nerve cells from being destroyed by excess glutamate, is involved in modulating the reward-seeking behaviour associated with drug addiction.

The rats were more likely to consume cocaine when it was made freely available but less likely to seek it when they had to make more effort to obtain it.

When cocaine was no longer available, the rats were quicker to cease the behaviours that had previously resulted in the drug's delivery.

Even when cocaine was subsequently re introduced, they showed reduced interest for drug seeking, constituting a lower rate of relapse.

Dr Xi said: "The gene-knockout mice don't enjoy much reward when they take the cocaine. So when the drug is available to them, the animals work to increase their intake to feel rewarded.

"But when the drug is difficult to get, the reward isn't worth it anymore, the animal just wants to quit."

Low or absent mGluR2 expression caused the rodents to experience a lessened neurological reward when taking cocaine.

At the cellular level, the research illuminates the role that glutamate - the most abundant neurotransmitter in all vertebrates and a prominent contributor to pathways of learning, memory, and anxiety in humans - plays in cocaine addiction.

This goes beyond previous findings that focused on dopamine response, the 'feelgood' chemical more commonly associated with reward seeking, as the main culprit.

Deleting mGluR2 causes nerve cells to be awash in glutamate before any cocaine is ingested.

Cocaine "works" by binding to receptors in place of neurotransmitters like glutamate and dopamine, forcing them to float around and excite neuron junctions, or synapses.

So the pre-existing flood of glutamate limits its power to deliver a neurological reward.

The researchers also plan on studying the influence of mGluR2 - which has been preliminarily associated with alcohol and nicotine addictions - in relation to opiates such as heroin.

Added Dr Xi: "It seems that mGluR2 may be a common target for treating addictions to many drugs."

The finding adds to evidence glutamate, a neurotransmitter central to learning and memory, is also central to addiction.

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Gene that gets people hooked on cocaine has been identified and some are more at risk than others - Mirror.co.uk

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Far More People Than Thought Are Carrying Rare Genetic Diseases – ExtremeTech

Posted: July 10, 2017 at 7:45 pm

Outside of evolutionary biology, the human body is often spoken of as a miracle of engineering. But those more familiar with its workings point out evolution is no perfectionist, often favoring clunky ad hoc solutions over thosemore elegant in design. In fact, the comparison of evolution to a gambler might be the most apt, and nowhere is this more evident than in reference to genetic diseases like hemophilia. Now a recent study published in the Annals of Internal Medicine suggests far more people than previously thought are carrying variants of rare genetic diseases and could force us to redefine what is considered a healthy genome.

Genetic disorders are those resulting from mutations in ones DNA, often with horrendous results. Previously, scientists believedgenetic disorders were present in only a small fraction of the human population, 5 percent or less. After all, a population riven with genetic mistakes would quickly die out, or so went the logic. However, the present study puts the fraction of people with mutations linked to genetic diseases at something closer to 20 percent.

But is nature really so clumsy as to allow a veritable swarm of deleterious mutations to slip through her quality control mechanisms? It turns out many genetic disorders hide secret advantages. Take a person with the mutation that causes sickle cell anemia. A single copy of the mutation for sickle cellanemiaactually protects against the disease malaria. Its only if someone receivestwo copies of the defective gene that the problematic form of sickle cellanemia results. With many genetic disorders, nature seems to be hedging her bets, allowing some defects to slip through if they can provide a survival advantage to the population at large.

Counterintuitively, an individual suffering from a rare genetic disease may represent a successful population-level response to a given environment. This dance between genes and environments is at the heart of what we think of as health. But for most of history, medicine has considered the well being of an individual in isolation from population-level genetics. A more nuanced understanding of rare genetic diseases would take into account the various benefits genetic mistakes confer. This also suggests a cautious approach when editing our own genomes with tools like tools like CRISPR. Even seemingly terrible mutations we would be tempted to eliminate from the genetic pool may confer some secret advantage geneticists have yet to discover.

The study comes at a time when routine genetic testing is the subject of a far-ranging debate. Many doctors fear the release of genetic data to patients would cause undue anxiety. This study didnt support those claims, and goes a distance to undermine the paternalistic style of medicine currently practiced in many developed nations. In the United States, for instance, doctors remain a crucial chokepoint through which patients must pass through to access genetictesting. That said, anumber of direct-to-consumer genetic testing companies like 23andMe are breaking down these barriers, and a host of websites and even smartphone apps exist to help one make sense of their genetic data.

Now read: What is gene therapy?

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Far More People Than Thought Are Carrying Rare Genetic Diseases - ExtremeTech

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China develops ‘genetic editing’ technology to clone puppies – and it could be used to breed super dogs – Mirror.co.uk

Posted: at 7:45 pm

Scientists i China have developed advanced genetic editing technology to successfully clone a beagle puppy.

Little Long Long, is China's first ever self-bred cloned dog, and is thought to be only the second in the world.

The beagle was created with double the amount of muscle mass as a normal dog of the same species, by 'deleting' a gene called myostatin.

Lai Liangxue, researcher at Guangzhou institute of biological medicine and health, told Science and Technology Daily : "This is a breakthrough, marking China as only the second country in the world to independently master dog-somatic clone technology, after South Korea."

Lai suggested that the cloning technology could be used to breed 'super dogs' which are better at hunting or running, to help police officers.

But some have criticised the process as being unethical after researchers said in the Journal of Molecular Cell Biology that they intended to create dogs with DNA mutations, including some that mimic human diseases, like Parkinson's.

Lai added: "The goal of the research is to explore an approach to the generation of the new disease dog models for biomedical research.

"Dogs are very close to humans in terms of metabolic, physiological and anatomical characteristics."

It has long been thought that dogs were one of the most difficult animals to clone, with only South Korea having achieved a successful 'copy' in the past.

For Lai's team in China, 65 embryos were 'edited and 27 pups were born, but one, Long Long, was born without the myostatin gene, therefore displaying increased muscle mass compared to that of her litter mates.

Guo Longpeng, the China press officer for the Asia division of People for the Ethical Treatment of Animals, told Sixth Tone: "Cloning is unethical.

"Like any other laboratory animal, these animals are caged and manipulated in order to provide a lucrative bottom line."

There's also a worry that the dogs could be bred as 'novelty' pets, allowing certain scientific or research teams to capitalise on owners who desire their dog to be a certain size, or of higher intelligence.

Lai and his team of 28 colleagues have said they have no plans to breed the muscular beagles as pets.

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Big data analytics in healthcare: Fuelled by wearables and apps, medical research takes giant leap forward – Firstpost

Posted: July 9, 2017 at 11:47 am

Driven by specialised analytics systems and software, big data analytics has decreased the time required to double medical knowledge by half, thus compressing healthcare innovation cycle period, shows the much discussed Mary Meeker study titled Internet Trends 2017.

The presentation of the study isseen as an evidence of the proverbial big data-enabled revolution, that was predicted by experts like McKinsey and Company. "A big data revolution is under way in health care. Over the last decade pharmaceutical companies have been aggregating years of research and development data into medical data bases, while payors and providers have digitised their patient records, the McKinsey report had said four years ago.

Representational image. Reuters

The Mary Meeker study shows that in the 1980s it took seven years to double medical knowledge which has been decreased to only 3.5 years after 2010, on account of massive use of big data analytics in healthcare. Though most of the samples used in the study were US based, the global trends revealed in it are well visible in India too.

"Medicine and underlying biology is now becoming a data-driven science where large amounts of structured and unstructured data relating to biological systems and human health is being generated," says Dr Rohit Gupta of MedGenome, a genomics driven research and diagnostics company based in Bengaluru.

Dr Gupta told Firstpost that big data analytics has made it possible for MedGenome, which focuses on improving global health by decoding genetic information contained in an individual genome, to dive deeper into genetics research.

While any individual's genome information is useful for detecting the known mutations for diseases, underlying new patterns of complicated diseases and their progression requires genomics data from many individuals across populations sometimes several thousands to even few millions amounting to exabytes of information, he said.

All of which would have been a cumbersome process without the latest data analytics tools that big data analytics has brought forth.

The company that started work on building India-specific baseline data to develop more accurate gene-based diagnostic testing kits in the year 2015 now conducts 400 genetic tests across all key disease areas.

What is Big Data

According to Mitali Mukerji, senior principal scientist, Council of Scientific and Industrial Research when a large number of people and institutions digitally record health data either in health apps or in digitised clinics, these information become big data about health. The data acquired from these sources can be analysed to search for patterns or trends enabling a deeper insight into the health conditions for early actionable interventions.

Big data is growing bigger But big data analytics require big data. And proliferation of Information technology in the health sector has enhanced flow of big data exponentially from various sources like dedicated wearable health gadgets like fitness trackers and hospital data base. Big data collection in the health sector has also been made possible because of the proliferation of smartphones and health apps.

The Meeker study shows that the download of health apps have increased worldwide in 2016 to nearly 1,200 million from nearly 1,150 million in the last year and 36 percent of these apps belong to the fitness and 24 percent to the diseases and treatment ones.

Health apps help the users monitor their health. From watching calorie intake to fitness training the apps have every assistance required to maintain one's health. 7 minute workout, a health app with three million users helps one get that flat tummy, lose weight and strengthen the core with 12 different exercises. Fooducate, another app, helps keep track of what one eats. This app not only counts the calories one is consuming, but also shows the user a detailed breakdown of the nutrition present in a packaged food.

For Indian users, there's Healthifyme, which comes with a comprehensive database of more than 20,000 Indian foods. It also offers an on-demand fitness trainer, yoga instructor and dietician. With this app, one can set goals to lose weight and track their food and activity. There are also companies like GOQii, which provide Indian customers with subscription-based health and fitness services on their smartphones using fitness trackers that come free.

Dr Gupta of MedGenome explains that data accumulated in wearable devices can either be sent directly to the healthcare provider for any possible intervention or even predict possible hospitalisation in the next few days.

The Meeker study shows that global shipment of wearable gadgets grew from 26 million in 2014 to 102 million in 2016.

Another area that's shown growth is electronic health records. In the US, electronic health records in office-based physicians in United States have soared from 21 percent in 2004 to 87 percent in 2015. In fact, every hospital with 500 beds (in the US) generate 50 petabytes of health data.

Back home, the Ministry of Electronics and Information Technology, Government of India, runs Aadhar-based Online Registration System, a platform to help patients book appointments in major government hospitals. The portal has the potential to emerge into a source if big data offering insights on diseases, age groups, shortcomings in hospitals and areas to improve. The website claims to have already been used to make 8,77,054 appointments till date in 118 hospitals.

On account of permeation of digital technology in health care, data growth has recorded 48% growth year on year, the Meeker study says. The accumulated mass of data, according to it, has provided deeper insights in health conditions. The study shows drastic increase of citations from 5 million in 1977 to 27 million in 2017. Easy access to big data has ensured that scientists can now direct their investigations following patterns analysed from such information and less time is required to arrive at conclusion.

If a researcher has huge sets of data at his disposal, he/she can also find out patterns and simulate it through machine learning tools, which decreases the time required to arrive at a conclusion. Machine learning methods become more robust when they are fed with results analysed from big data, says Mukerji.

She further adds, These data simulation models, rely on primary information generated from a study to build predictive models that can help assess how human body would respond to a given perturbation, says Mukerji.

The Meeker also study shows that Archimedes data simulation models can conduct clinical trials from data related to 50,000 patients collected over a period of 30 years, in just a span of two months. In absence of this model it took seven years to conduct clinical trials on data related to 2,838 patients collected over a period of seven years.

As per this report in 2016 results of 25,400 number of clinical trial was publically available against 1,900 in 2009.

The study also shows that data simulation models used by laboratories have drastically decreased time required for clinical trials. Due to emergence of big data, rise in number of publically available clinical trials have also increased, it adds.

Big data in scientific research

The developments grown around big-data in healthcare has broken the silos in scientific research. For example, the field of genomics has taken a giant stride in evolving personalised and genetic medicine with the help of big data.

A good example of how big data analytics can help modern medicine is the Human Genome Project and the innumerous researches on genetics, which paved way for personalised medicine, would have been difficult without the democratisation of data, which is another boon of big data analytics. The study shows that in the year 2008 there were only 5 personalised medicines available and it has increased to 132 in the year 2016.

In India, a Bangalore-based integrated biotech company recently launched 'Avestagenome', a project to build a complete genetic, genealogical and medical database of the Parsi community. Avestha Gengraine Technologies (Avesthagen), which launched the project believes that the results from the Parsi genome project could result in disease prediction and accelerate the development of new therapies and diagnostics both within the community as well as outside.

MedGenome has also been working on the same direction. "We collaborate with leading hospitals and research institutions to collect samples with research consent, generate sequencing data in our labs and analyse it along with clinical data to discover new mutations and disease causing perturbations in genes or functional pathways. The resultant disease models and their predictions will become more accurate as and when more data becomes available.

Mukerji says that democratisation of data fuelled by proliferation of technology and big data has also democratised scientific research across geographical boundaries. Since data has been made easily accessible, any laboratory can now proceed with research, says Mukerji.

We only need to ensure that our efforts and resources are put in the right direction, she adds.

Challenges with big data

But Dr Gupta warns that big-data in itself does not guarantee reliability for collecting quality data is a difficult task.

Moreover, he said, In medicine and clinical genomics, domain knowledge often helps and is almost essential to not only understand but also finding ways to effectively use the knowledge derived from the data and bring meaningful insights from it.

Besides, big data gathering is heavily dependent on adaptation of digital health solutions, which further restricts the data to certain age groups. As per the Meeker report, 40 percent of millennial respondents covered in the study owned a wearable. On the other hand 26 percent and 10 percent of the Generation X and baby boomers, respectively, owned wearables.

Similarly, 48 percent millennials, 38 percent Generation X and 23 percent baby boomers go online to find a physician. The report also shows that 10 percent of the people using telemedicine and wearable proved themselves super adopters of the new healthcare technology in 2016 as compared to 2 percent in 2015. Collection of big data.

Every technology brings its own challenges, with big data analytics secure storage and collection of data without violating the privacy of research subjects, is an added challenge. Something, even the Meeker study does not answer.

Digital world is really scary, says Mukerji.

Though we try to secure our data with passwords in our devices, but someone somewhere has always access to it, she says.

The health apps which are downloaded in mobile phones often become the source of big-data not only for the company that has produced it but also to the other agencies which are hunting for data in the internet. "We often click various options while browsing internet and thus knowingly or unknowingly give a third party access to some data stored in the device or in the health app, she adds.

Dimiter V Dimitrov a health expert makes similar assertions in his report, 'Medical Internet of Things and Big Data in Healthcare'. He reports that even wearables often have a server which they interact to in a different language providing it with required information.

Although many devices now have sensors to collect data, they often talk with the server in their own language, he said in his report.

Even though the industry is still at a nascent stage, and privacy remains a concern, Mukerji says that agencies possessing health data can certainly share them with laboratories without disclosing patient identity.

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Big data analytics in healthcare: Fuelled by wearables and apps, medical research takes giant leap forward - Firstpost

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FOXP3 Gene Mutations May Explain Immune System Excitability in MS and Other Diseases – Multiple Sclerosis News Today

Posted: at 11:47 am

A gene mutation may explain theuncontrolled, inflammatory immune response seenin autoimmune and chronic inflammatory diseaseslikemultiple sclerosis, scientistsat the Research Institute of the McGill University Health Centre (RI-MUHC) report. Its a discovery that, they said, appears tobe a big step in the right direction.

According to the study, published in the journalScience Immunology, alterations in theFOXP3 geneaffect specificimmune cells called regulatory T-cells, or Tregs. Those mutations hamper Tregs in performing a crucial regulatory role, leading to a loss of control over the immune systems response to a perceived threat.

We discovered that this mutation in the FOXP3 gene affects the Treg cells ability to dampen the immune response, which results in the immune system overreacting and causing inflammation, Ciriaco Piccirillo, the studys lead author andan immunologist in the Infectious Diseases and Immunity, Global Health Program, at the RI-MUHC, said in a news release.

Tregs are known to be the immune system playersresponsible for keeping other immune cells under control, preventing them from attacking the hosts own tissues, while maintaining a properimmune response against harmful agents. The normal activity of Treg cells is essential for preventing excessive immune reactions.

TheFOXP3 gene is also well-known, and documented, to be essentialfor proper Treg cell function. However, the mechanisms by whichFOXP3 gene is involved in Treg cell activities are still poorly understood.

In the study, Suppression by human FOXP3+ regulatory T cells requires FOXP3-TIP60 interactions, the research team in collaboration with researchers at University of Pennsylvania, University of Washington School of Medicine, and Teikyo University School of Medicine in Japan evaluated the impact of aFOXP3 gene mutation in autoimmunity response.

Taking advantage of cutting-edge technology, the team studiedsamples from two patients carrying a common FOXP3 gene mutation, which caused a genetic immune disorder called IPEX. Interestingly, the researchers found that this genetic variant did not reduce the number of Treg cells or the levels of FOXP3 protein. Instead, the mutation altered the way Tregs could suppress other immune cells to prevent overactivation.

What was unique about this case of IPEX was that the patients Treg cells were fully functional apart from one crucial element: its ability to shut down the inflammatory response, saidPiccirillo.

Understanding this specific mutation has allowed us to shed light on how many milder forms of chronic inflammatory diseases or autoimmune diseases could be linked to alterations in FOXP3 functions, addedKhalid Bin Dhuban, the studys first author and a postdoctoral fellow in Piccirillos laboratory.

The team developed a compound capable of restoring Treg cells ability to control the immune system in the presence of this specific FOXP3 gene mutation. Tested in animal models of colitis and arthritis, twochronic inflammatory diseases, the compound reduced inflammation and restored normal Treg function.

Researchers now plan to developsimilar drugs that may be of use inother diseaseswhere Treg cells are known to be defective, including multiple sclerosis,type 1 diabetes, and lupus.

Currently, we have to shut down the whole immune system with aggressive suppressive therapies in various autoimmune and inflammatory diseases, said Piccirillo. Our goal is to increase the activity of these Treg cells in certain settings, such as autoimmune diseases, but we want to turn it down in other settings, such as cancer.

This discovery gives us key insights on how Treg cells are born and how they can be regulated, Piccirillo added. With this discovery, we are taking a big step in the right direction.

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UK’s chief medical officer calls for gene testing revolution in cancer treatment – Daily Nation

Posted: July 8, 2017 at 8:45 pm

Saturday July 8 2017

Kenyans mark World Cancer Day on February 4, 2016 in Eldoret town. Tiny errors in DNA code can lead to cancer and other illnesses. PHOTO | JARED NYATAYA | NATION MEDIA GROUP

A revolution in the search for cancer treatments has been proposed by Englands chief medical officer.

Prof Sally Davies wants gene-testing to be introduced on a routine basis.

I want the National Health Service to be offering genomic medicine, that means diagnosis of our genes, to patients where they can possibly benefit, she said.

GENETIC TESTS Testing, she said, should be standard across cancer care as well as some other areas of medicine, including rare diseases and infections.

Doctors are already using genetic tests to identify and better treat different strains of the infectious disease, tuberculosis.

Humans have about 20,000 genes, bits of DNA code or instructions that control how our bodies work.

Tiny errors in this code can lead to cancer and other illnesses.

Gene-screening can reveal these errors by comparing tumour and normal DNA samples from the patient.

Professor Davies says in about two-thirds of cases, this information can improve their diagnosis and care.

Doctors can tailor treatments to the individual, picking the drugs most likely to be effective.

Currently, genetic testing in England is done at 25 regional laboratories, as well as some other small centres.

Professor Davies wants to centralise the service and set up a national network to ensure equal access to the testing across the country.

She said one hurdle could be doctors themselves, who dont like change.

Patients should persuade them to move from a local to a national service. *** Joe Furness was in Newcastle upon Tyne when he was invited to a party in London.

A three-hour, one-way train trip would cost him 78.50 (Sh10,517) and a plane flight 106, but Joe, aged 21, is a poor student and didnt have much money.

What he did have however was time. So Joe decided to take a detour via Spain.

CAR HIRE Flying from Newcastle to the Spanish island of Menorca cost him 16.00.

There he hired a car for 7.50 and spent the night in it, while sipping a 4.50 cocktail.

Next morning he flew to London for 11.00, joined the party, then grabbed a lift home with a pal afterwards.

Total cost of 39 was a saving of 39.50 on a train journey from Newcastle and 67 on a flight.

Distance travelled was 2,350 miles, against 290 miles from the North to London. *** Bradley Lowery is a six-year-old boy who won the hearts of the nation by campaigning for his beloved Sunderland Football Club and for its top scorer, Jermaine Defoe.

TV film of Defoe holding a smiling Bradley in his arms before a recent game appeared on nationwide television.

What everyone knows, of course, is that Bradley is dying from the childhood cancer neuroblastoma.

A fund-raising campaign raised money for him and will be used for other sick children when Bradley dies.

Now it seems fraudsters have been setting up pages on the internet claiming to be collecting for the boys cause.

His family have warned against them. Please be vigilant, they said in a message on Facebook.

You have to wonder, how low can some people stoop?

*** Some 400 plastic bottles are sold per second in this country and millions end up, along with other garbage, in the worlds oceans.

In fact, scientists calculate that by 2050, the oceans will contain more plastic by weight than fish.

The opposition Labour party is pressing for the introduction of a money-back return scheme, which has been introduced in many other countries and has proved successful in reducing the scale of littering.

You pay a bit extra for your drink but you get it back if you return the bottle, which the drinks company then recycles.

Coca-Cola, among others, is backing the idea. *** Famous one-liners:

Doctors recommend eight glasses of water per day. Why does this seem impossible when eight glasses of beer is so easy? Anonymous.

If you want to know what God thinks of money, look at the people he gave it to. American writer Dorothy Parker.

The two most beautiful words in the English language are Cheque enclosed. Dorothy Parker.

PLAGIARISM I asked God for a bike but I know He doesnt work that way, so I stole a bike and asked for forgiveness. Internet.

I wouldnt say I was the best football manager in the business, but I was in the top one. Brian Clough, British football manager.

To steal ideas from one person is plagiarism; to steal from many is research. Anonymous

England and America are two countries separated by a common language. Irish writer George Bernard Shaw.

If I agreed with you, then we would both be wrong. Internet.

Interior Cabinet Secretary collapsed in his house and was rushed to hospital by family and

He is becoming the Presidents go-to-guy when things need to be fixed.

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Gene Cloning Just Became A Thousand Times Easier – Wall Street Pit

Posted: at 8:45 pm

Presently, the process of DNA sequencing to discover a genes function is a bit time-consuming because it has to be done one gene at a time. But with the invention of a team of researchers from Rutgers University-New Brunswick, Johns Hopkins University and Harvard Medical School, that process can now be considerably shortened as they have found a way to simultaneously clone thousands of genes.

The new technique is called LASSO cloning LASSO is an acronym for long-adapter single-strand oligonucleotide and through it, isolating thousands of DNA sequences can now be done at the same time. As a result, the new technology can supposedly expedite the creation of proteins the end product of genes which can in turn lead to faster discovery of new medicines and biomarkers for scores of diseases.

The technique is considered as quite an improvement over an existing method known as molecular inversion probes (MIPs), which can only capture about 200 bases of DNA. Raising this number to a thousand is especially significant because the typical size of a genes protein-coding sequence can reach up to thousands of DNA base pairs.

The technology works through a tool the team refers to as a LASSO probe. Using a number of these probes enables grabbing of target DNA sequences, similar with how a lasso (a rope) is used to round up cattle. What makes this special is the fact that with a single effort, the technique can grab thousands of DNA sequences at the same time.

In their proof-of-concept study, the team used their LASSO probes to simultaneously capture over 3,000 E. coli bacteria DNA fragments. They were successful in capturing around 95% of their gene targets. More importantly, the sequences were captured in such a way that allowed the researchers to observe and evaluate what the expressed proteins do.

As an added bonus, the team also helped solved a perennial problem in the genome sequencing field. As it is, genetic sequencing currently involves sequencing small fragments of DNA one at a time, then overlaying them in order to map out the entire genome. This doesnt just take time; its also harder to interpret and kind of prone to errors. With the LASSO probes, sequencing long fragments has now been made possible, which also translates to a faster and more accurate gene sequencing process.

As one of the researchers, Biju Parekkadan of the Rutgers University-New Brunswick, said: We think that the rapid, affordable, and high-throughput cloning of proteins and other genetic elements will greatly accelerate biological research to discover functions of molecules encoded by genomes and match the pace at which new genome sequencing data is coming out.

Going forward, the team is now working on improving the cloning process, building libraries and discovering the therapeutic proteins found in our genes.

The research was recently published in the journal Nature Biomedical Engineering.

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