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Hawaii Natural Medicine Offers IV Nutritional Therapy for Wellness – KHON2

November 3rd, 2019 12:49 am

Posted: Nov 1, 2019 / 02:59 PM HST / Updated: Nov 1, 2019 / 02:59 PM HST

Honolulu (KHON2) IV Nutritional therapy is nolonger just a secret of the stars, its catching on with locals who see thebenefits of getting a cocktail of vitamins and minerals at HawaiiNatural Medicine.

Dr. Stephen Benchouk welcomed Living808 to seehow it works, saying IV Vitamin Therapy is anintravenous injection that delivers vitamins, minerals, and amino acidsnutrients directly to the cells of the body. These nutrients are directlyabsorbed into the circulatory system, bypassing the gastrointestinal tractthereby increasing the absorptive and therapeutic capability. It is oftenprescribed as part of a complete, holistic and individualized treatmentplan.

Many clients use IV therapyfor colds, flu, fatigue, jetlag, hangover, and dehydration, or for pre and postexercise recovery.

Clients fill out an intake form and based on the clients chief concerns, and an infusion is customized for that individual.

According to Dr. Benchouk, Morecomplicated cases such as cancer, autoimmune conditions and chronic diseasewill need a more comprehensive protocol which may include diet, supplements,herbs, medication, and life style changes.

IV Nutritional therapy has been around for years, Dr. Myers made it popular back in the 60s treating a variety of condition with a cocktail of vitamins and minerals.Since then, adds Benchouk, there has been decades of research on the effectiveness of using specific nutrients to treat specific conditions safely and without many of the side effects associated with some conventional medications. It has been used extensively by naturopathic doctors who are trained in application of therapeutic nutrition in both acute and chronic conditions.

Dr. Benchouk is a naturopathic doctor ora primary care physician who specializes in alternative and integrativemedicine. One of his most effective and popular treatments is IV vitamintherapy.

Clients are looking to treat the cause of their health concerns or looking for an alternative to convention medical treatments as those treatments come with side effects or are no longer effective. HNM specializes in integrative oncology, chronic conditions like autoimmune disorders, gastro intestinal disorders, endocrine disorders, most chronic conditions, and general wellness and prevention.

The IV treatments have gotten sopopular, HNM recently launched a mobile service called IV Drip Hawaii.

Mention Living808 and throughoutNovember, youll receive 15% off your introductory IV Vitamin Therapy.

Websites: http://www.hawaiinaturalmedicine.com https://ivdriphawaii.com/

Hawaii Natural Medicine islocated at 1188 Bishop Street, Suite 1605

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Ticked off: Congressman Chris Smith Perseveres in the fight against Lyme disease – TAPinto.net

November 3rd, 2019 12:49 am

New National Lyme ResearchInitiative has roots in New Jersey

MONMOUTH COUNTY, NJ: At a press conferenceheld last Friday, October 25th,in the courtyard of the Wall TownshipMunicipal Building,U.S. Rep. Chris Smith (R-NJ), formally acknowledged and praised the recent launching earlier in the month, of theNational Institutes of Healths (NIH)national research strategy to combat Lyme disease.

Smith also expressed his frustration for the amount of years that it took to get to this point.

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Smith was joined at the presseventwith patients who suffer from Lyme disease, and also in attendance were Lyme research and treatment advocacy leaders.

U.S. Rep. Chris Smith (R-NJ), the co-chair of the congressional Lyme Disease Caucus,has been working on advancing research, treatment and funding for Lyme's Disease since1992,when Smith first met with top medical and health officials to discuss the topic in Washington.

Thenin1998, Congressman Smith co-sponsored the Lyme Disease Initiative Act of 1998, toestablish a program to provide for a reduction in the incidence and prevalence of Lyme disease. Smith has been a tenacious early leader in the fight against Lyme disease, a leader in theeffortto combat Lyme disease for over 27 years.

Congressman Smith commented, Everything that was imbedded in our first bill in 1998and every bill thereafteris captured in the five pillars in the NIH plan.We have waited for this initiative for a long time, but in launching this effort,NIH appears to be forging ahead for researching Lyme and other tick-borne diseases to better diagnose and treat those suffering from this horrific disease,"said Smith.

Smith mentioned that the new NIH planreads like the content of several of the bills he has introduced over the years pushing the federal government to establish a responsive, comprehensive, scientific strategy to help those gravely ill from Lyme and other tick-borne diseases.

Dr. Jodie Dashore, Ph.D., of Marlboro, an expert in integrative medicine specializing in neurology, who cares for Lyme patients from 40 countries,wasalso present and spoke at the event. Dashore'sson Brian was present in the audience to sharehis story. His isone riddled with multiple misdiagnosis, and a cripplingnear-deathjourneywith chronic Lyme disease. WatchTAPinto'sone-on-one breakoutinterview with Dr. Dashore:

VIDEO-Hear Dr. Dashore's powerful testimony:

Dr. Dashore also spoke about the link established between Lyme disease and autism. Her plant based treatmentshave successfully treatedpatients withLyme disease and also many with an autism diagnosis. New Jersey has a large population of people diagnosed with Lyme diseaseand heres the keyNew Jersey has a large population of people diagnosed with autism spectrum disorder, she said, estimating that 65 percent of her child patients with autism have Lyme.

She said more research into Lyme was needed, and was supportive of the NIH to kick off its national research plan."Clinical research is urgently needed for accurate testing of the multiple genospecies and multiple strains of organisms, along with human genetic and immunologic risk factors associated with tick borne illness, Dashore said. Early diagnosis, reliable testing and effective treatment strategies help contain the immunosuppressive complex biological expression of the disease thus preventing a prolonged and debilitating illness with a large socio-economic impact."

Priorities in the NIH multipart plan include the five pillars of: Expanding knowledge of tickborne diseases; developing rapid diagnostic testing; identifying treatment success and human biomarkers of persistent symptoms; developing new treatments; and evaluating prevention approaches such as vaccines.

Smith, the co-chair of the congressional Lyme Disease Caucus, is also the author of the pendingTICK Act(HR 3073), which will develop a whole-of-government National Strategy to prevent and treat Lyme and other vector-borne diseases.Smiths legislation would create a new Office of Oversight and Coordination for Vector-borne Disease in the Department of Health and Human Services coordinating strategies across the entire federal governmentincluding the NIH, and also the Departments of Defense, Agriculture, Interior, Homeland Security and the Environmental Protection Agency.

We have a bill calledThe Tick Actwhich would codify the idea of a national strategy, Smith said. He noted that the fight against Lyme disease is surging administratively, and thanked the Administration for directing federal agencies to see how Lyme disease can be addressed within their own departments.

In releasing itsStrategic Plan for Tickborne Disease Research, the NIH said the effort was inspired in part by the2018 Report to Congressby theHHS Tickborne Diseases Working Group(TBD Working Group). Smith spearheaded the legislation that created the TBD Working Group, which became a provision (Section 2062) ofthe21st Century Cures Act.

The Tickborne Disease Working Group met for months and came up with a report that demolished the myths about Lyme disease, like that chronic Lyme disease doesnt exist. The report recognizes that current diagnostics are totally inadequate. In terms of diseases and disabilities, it shows there is no other disease or disability that is as underfunded than Lyme disease. The Working Group Report has become the marching orders in the fight against Lyme disease,Congressman Smith said.

Also, at the press conference to speak wasPatricia Smith, president of the national Lyme Disease Association, and parent of a child who contracted Lyme disease. I have worked with Congressman Smith for 27 years to get the attention needed for Lyme, Ms. Smith said. Working on our 2018 TBD Working Group Report, we discovered NIH had no national strategy on Lyme and tick borne diseases. The Report to Congress recommended that one be developed. Two weeks ago, NIH released a comprehensive TBD research strategy which outlines what kinds of research needs to be done to help patients and to stop the spread of the disease.

VIDEO-Listen to Patricia Smith, president of the national Lyme Disease Association:

She called the NIH actiona good first step, and added we also need passage of the TICK Act to bring all tickborne disease under one office of government and to generate necessary funds for a comprehensive research plan.

Also speaking at the event were Lyme patients Debbie Scatuccio of Jackson, a mother of two children with Lyme and grandmother of two with Lyme.Brian Dashore is asenior at Monmouth County Academy of Health Science. Hehopes to become an immunologist, in part because of his own battle with Lyme disease. I am motivated by my own experience with the disease and because the health care field is so interesting, Brian said. Ive mentored kids with Lyme, he said, discussing such issues as bullying, extended days out of school, and his own experiences including pain, brain fog and fatigue.

Scatuccio said the NIH research plan was a long time in coming, and was happy the TICK Act was sponsored by her own member of Congress from New Jersey, Rep. Smith (R-NJ), with the lead cosponsor a member from her former state of residence Minnesota, Rep. Colin Peterson (D-MN). Smith and Peterson co-chair the Lyme Disease Caucus on Capitol Hill.

It was very important it was bipartisan, Scatuccio said. I am proud that the two Members of Congress from the two states which are dearest to my heart, are helping our country. The people of the United States deserve to get the right care.

Dr. Robert C. Bransfield, M.D, Clinical Associate Professor at Robert Wood Johnson UMDNJ Medical School, President of the International Lyme and Associated Diseases Educational Foundation who has worked with Smith on Lyme issues in the past, said that the main cause of death from Lyme disease is suicide and a major cause of disability from Lyme disease are mental and cognitive impairments.

Many who see themselves as authorities on Lyme disease have little training in psychiatry and are unable to comprehend how a tick bite can result in mental illnesses, Bransfield said.

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Two minutes to lift your mood – Times of India

November 3rd, 2019 12:49 am

You dont need big changes to lift your mood. Turn around your hectic day in a jiffy with a few quick tricks Flip through photosWhen you are feeling down, pick your childhood albums or take out your kids baby albums. It may actually make you feel happier than a square of chocolate. Researchers at UKs Open University found this after they examined how much peoples moods rose after looking at personal photos. The study says viewing your old or new happy pictures makes people feel 11% better. Inhale calming scentsFill your indoor space with vanilla or lavender essence. In an Austrian study, researchers wafted the smell of lavender for people. The group felt less anxious, more positive, and calmer when compared with participants not exposed to any fragrance.Open the windowsTo feel happy in seconds, let sunlight stream in. One study of more than 450 women found that those who got the most light, particularly in the morning, reported better mood. Combine exercise with morning light. The exposure amplifies lights beneficial effects on mood, sleep, and alertness.Watch a funny videoA hearty laugh produces a chemical reaction that instantly elevates your mood. When stress builds up or you feel you may snap, make yourself giggle: Watch a funny video clip online.Chop vegetablesYes, this is therapy. According to Andrew Weil, MD, an integrative medicine expert, after a particularly emotional and stressful day, the act of chopping vegetables creates something wonderful this process neutralises the negative mental state in no time.Massage your handsThe act of massaging your hands with oil or cream and rubbing them instantly lifts your mood. Hands and wrists have your pulse points. Happiness is just a tight squeeze away. According to Matt Hertenstein, associate professor of psychology, DePauw University (Indiana, US), even 10 minutes with a massage therapist (or a generous friend) will light up your brains reward centre, get the oxytocin flowing, and have a big effect on your mood, not to mention help relieve aches and pains. Most scientists think that even self-massage, like rubbing your own feet, can rid you of negative emotions.

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Get disciplined post festivities – Times of India

November 3rd, 2019 12:49 am

Festivities are a time of joy, celebration and of course food! For many people, the idea of indulging in festive food overwhelms them and the fear and stress of piling on weight creeps up. Well, firstly, its necessary to understand the connection between food and the kind of relationship you build with it. Food is not the reason why you gain weight or suffer from a health condition. The culprit is the person eating it and his/her lifestyle. Its a bitter truth that most of us dont want to hear. So, while you consciously practice mindful eating, portion control, moderation, proper chewing, here are some more lifestyle tweakings you can adopt to maintain good health. Mind you, these are simple, inexpensive and natural ways. All you need is self-discipline and effort. Tabata before treat! Tabata workout is a great way to stoke your metabolism in less than 4 minutes. Its a set of 8 exercises that makes you work out at a maximum intensity for 20 secs followed by 10 secs. Exercises like planks, squats, lunges, push-ups, jumping jacks, high knees can easily fit into a Tabata. Four-minute Tabata is powerful because it turns body into a fat-burning machine and keeps metabolism high for the next few hours.

Sure, you always listen to your body when it comes to adopting a new exercise, else you risk injury. Jerky movements may not suit those who suffer from knee issues, so you may want to carve out a Tabata plan that suits your health condition. There are various Tabata apps and YouTube videos that can help you find the best fit. Time your dessert Dont gorge on the leftover sweets. Its an in-built intelligence of our body that directs us to eat, digest, absorb, assimilate, sleep, secrete certain hormones at a specific time of the day. We function best when we live as close to our circadian rhythm as possible. Our circadian rhythm has a huge effect on various metabolic processes in our body. It turns out, that our metabolism is at its peak during the afternoon, meaning that it is the best time of the day to fit in a dessert or any treat meal. As the day proceeds, our metabolism dips and slows down. Also, we do not need additional energy (read carbohydrates) at night because its requirement is much less when we sleep and rest.

That said, these strategies are not a free ticket to go all out and overdo on sweets. We still need to practice moderation, portion control, healthy relationships with food and above all, guilt-free eating.

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Lecture: The Natural Path to Boosting Immunity and Mood – mySanAntonio.com

November 3rd, 2019 12:49 am

Published 9:00am CDT, Friday, November 1, 2019

Photo: Contributed Photo.

Lecture: The Natural Path to Boosting Immunity and Mood

Winter is fast approaching and while many enjoy the New England change of seasons, the winter months also bring the challenge of preserving good health and mood. New Canaan Library welcomes nutritionist/dietician Jay Wolkoff, who will discuss how integrative and natural strategies can boost immunities and ones overall sense of well-being on Sunday, Nov. 10, at 2 p.m. in the Adrian Lamb Room. To register, visit newcanaanlibrary.org.

While modern-day living allows us to largely insulate ourselves from the outdoors and enjoy produce from temperate and tropical climates, there also is a certain beauty to acclimating our bodies to the cooler months with warming foods, herbs, and spices. In his presentation, Jay Wolkoff uses his extensive knowledge of nutrition and the sciences combined with integrative strategies to demonstrate how one can support their bodys natural immunity as well as keep their mood up during the darker and cooler months.

Wolkoff, nutritionist/dietician, MS, CNS, CDN, is passionate about providing individualized and comprehensive dietary and lifestyle support to his clients. His unique approach towards health effortlessly weaves together his background in evidence-based nutrition and the emerging sciences, clinical herbalism, appreciation for mind-body medicine, passion for organic gardening, and love of the outdoors.

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Pollution In Delhi: Herbal Teas And Other Ways To Reduce Cough, Cold And Other Health Risks – NDTV News

November 3rd, 2019 12:49 am

Delhi Pollution: Keep your indoors clean and dust-free to prevent air pollution health risks

Air quality in Delhi has reached severe category and people have started to experience the health hazards associated with it. Many are experiencing increased coughing, sneezing, irritation in the throat, etc. Alongside is the dip in weather, which is only making things worse. This is the perfect time to have some soothing, herbal teas that can provide relief from health hazards associated with air pollution and also calm you down. In an effort to help with respiratory problems deal with the hazards effects of air pollution, lifestyle coach Luke Coutinho takes to Instagram to share a herbal tea.

Made with ginger, cinnamon and other herbal spices, this herbal tea can reduce irritation in throat, cough, cold, sneezing, etc. You can have it early in the morning, in between meals or in evening.

Sipping warm tea during change in weather in rising pollution can have a soothing effect on your throatPhoto Credit: iStock

Also read:Prolonged Air Pollution Could Affect Your Mood And Work Productivity

To prepare this herbal tea, you need ginger (1 inch piece). 1 tsp of dried ginger powder can also be used as a replacement. Then, take Ceylon cinnamon stick (1) or cinnamon powder (1/4 tsp); basil/tulsi leaves (1/2 tsp); dry or fresh oregano (1 tsp); pepper corns (3), crushed elaichi (2); fennel seeds (1/4 tsp); ajwain or carrom seeds (a tiny pinch); jeera or cumin (1/4 tsp). You can also add optional ingredients: 1-2 cloves of crushed garlic.

Take all the ingredients and them in 2 cups of water. Boil them and reduce it to half. Strain the ingredients and sip on it warm. You can also add some honey or jaggery to the herbal to sweeten its taste.

Also read:Here's How You Can Protect Yourself From Poor Air Quality

1. An age-old and effective home remedy to control cough is chewing some jaggery or gud. Not only does it help in controlling cough, it can also help in removing harmful toxins from your lungs and respiratory tract.

2. Include more ginger in your diet. Apart from the herbal tea mentioned above, you can also try ginger, honey and lemon tea. You can take some grated ginger, lemon juice and honey and add it to boiling water. Strain the mixture and sip warm. It can control your cough, cold and congestion. Ginger contains gingerol and other compounds that can reduce inflammation in the airways and inhibit airway contraction.

Anti-inflammatory properties of ginger can reduce air pollution health risksPhoto Credit: iStock

3. You can also include garlic in your diet as it boost your immunity and help in fighting infections. Garlic has anti-inflammatory properties that can reduce symptoms of asthma as well.

Also read:Beat Ill Effects Of Air Pollution With These Lifestyle Changes That Can Cleanse Your Lungs Naturally

4. Citrus fruits like lemon, amla and oranges can boost your immunity and reduce respiratory symptoms caused by air pollution. Vitamin C in citrus fruits have beneficial effect on the body's immunity.

5. Basil (tulsi) juice or tulsi tea is another herbal tea you can have this time of the year. It can keep you warm and reduce ill effects of air pollution.

6. There is nothing that a soothing cup of turmeric latte won't do during cough and cold. From boosting your immunity to reducing inflammation, the traditional haldi doodh is the perfect remedy for dealing with congestion, sneezing, wheezing, cough, cold and asthma.

(Luke Coutinho, Holistic Lifestyle Coach - Integrative Medicine)

Disclaimer: This content including advice provides generic information only. It is in no way a substitute for qualified medical opinion. Always consult a specialist or your own doctor for more information. NDTV does not claim responsibility for this information.

Get Breaking news, live coverage, and Latest News from India and around the world on NDTV.com. Catch all the Live TV action on NDTV 24x7 and NDTV India. Like us on Facebook or follow us on Twitter and Instagram for latest news and live news updates.

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Turmeric: what are the benefits and is it good for you? – The Irish Times

November 3rd, 2019 12:49 am

Have you noticed lattes, ice cream and smoothies with a tawny hue? That could be a sign of a not-so-secret ingredient: turmeric. The botanical is omnipresent in health food aisles, in the form of pills and powders.

Turmeric, native to South Asia, is one of the fastest-growing dietary supplements. In 2018, products racked up an estimated 300 million in sales in the United States, a more than sevenfold increase from a decade earlier, according to a report from Nutrition Business Journal.

Brightening up the pantries of many homes in India, the spice is interwoven into daily life, the cuisine, and cultural and healing traditions. A member of the ginger family, it has been used in ayurvedic medicine for thousands of years. Apply turmeric to wounds, and its believed to fight infection. Mix it with milk, and the mind calms. Tint the entrance of new homes with a paste to welcome prosperity.

Turmeric is auspicious and one of the most important herbs, said Anupama Kizhakkeveettil, a board member of the National Ayurvedic Medical Association.

Sliced open, or dried into a spice, the Curcuma longa plant imparts its amber colour and earthy, bitter flavour to food like curry. The active ingredient captured in many turmeric supplements is curcumin. Curcumin, along with the other curcuminoid compounds, compose only about 3 per cent of the dried spice.

And bottles will often say turmeric on the front but list curcumin in the ingredients.

Turmeric is hailed for helping a host of conditions: high cholesterol, hay fever, depression, gingivitis, premenstrual syndrome and even hangovers. In ayurvedic medicine, it is believed to act as an anti-viral, anti-bacterial and anti-parasitic, and has long been used to help with diabetes, pain, rheumatism, osteoarthritis, memory and skin conditions like eczema.

We use it for so many different conditions, its a time-tested herb, Kizhakkeveettil said. Unfortunately, our science doesnt fit into complete randomised controlled trials. That is alternative medicines biggest challenge.

Researchers sought to answer this by sifting through the available literature. In a 2017 paper in the Journal of Medicinal Chemistry, they concluded its fools gold. There are claims that it can cure everything, said Kathryn Nelson, a research assistant professor at the University of Minnesota and the studys lead author. To me, that is a red flag.

Dr Amit Garg, a professor of medicine at Western University in London, Ontario, knew about turmerics medicinal use because of his Indian heritage. He knew first hand of its rich cultural significance too: on his wedding day, his relatives rubbed the spice all over him because it is believed to be cleansing.

After seeing the effectiveness of curcumin, in smaller studies, Garg and his colleagues decided to test it on a larger scale in hopes it would make elective aortic surgery safer by reducing the risk of complications, which include heart attacks, kidney injury and death. In the randomised clinical trial that followed, about half of the 606 patients were administered 2,000 milligrams of curcumin eight times over for four days, while the others were given a placebo. It was a bit disappointing, but we couldnt demonstrate any benefit used in this setting, Garg said of the study, published last year in the Canadian Medical Association Journal.

In fact, there is not enough reliable evidence in humans to recommend turmeric or curcumin for any condition, according to the US National Center for Complementary and Integrative Health. Turmeric became a nutritional golden child partly because of its promise in laboratory studies cellular and animal. Some research indicates that both turmeric and curcumin, the active ingredient in turmeric supplements, have anti-inflammatory, antioxidant, anti-bacterial, anti-viral and anti-parasitic activity. But this has mostly been demonstrated in laboratory studies, and, in many cases, the benefits of preclinical research isnt observed in clinical trials.

According to Natural Medicines, a database that provides monographs for dietary supplements, herbal medicines, and complementary and integrative therapies, while some clinical evidence shows that curcumin might be beneficial for depression, hay fever, hyperlipidemia, ulcerative colitis, osteoarthritis and nonalcoholic fatty liver disease, its still too early to recommend the compound for any of these conditions.

And Natural Medicines has found there isnt enough good scientific evidence to rate turmeric or curcumins use for memory, diabetes, fatigue, rheumatoid arthritis, gingivitis, joint pain, PMS, eczema or hangovers.

Physicians say more research is needed. Dr Gary Small, a professor of psychiatry and biobehavioral sciences at the David Geffen School of Medicine at the University of California, Los Angeles, who studies curcumins effect on memory, sees a lot of therapeutic potential. He also states that existing research demonstrates curcumins biological effects.

What may be affecting curcumins efficacy, doctors say, is that it is poorly absorbed from the gastrointestinal tract. In Indian cooking, turmeric is usually heated in a fat, like oil, which can increase absorption. Certain supplement manufacturers are also taking steps to improve this curcumins bioavailability by combining the compound with other components. For instance, a chemical found in black pepper called piperine is sometimes added to curcumin supplements in proprietary blends to increase its absorption.

Researching curcumin can be challenging because some blends have better bioavailability than others, and varying amounts of the active ingredient. If you did the study over and over again but used slightly different preparations, you would probably have different results, said Dr Janet Funk, a professor of medicine at the University of Arizona College of Medicine, who studies curcumins effect on bone.

Still, even if absorption improved, curcumin would not have any biological effects, Nelson contends. Turmeric may still have health benefits, she said, but they just may be from another compound or combination of compounds.

Consuming it by mouth is safe, up to 2g of turmeric daily for a year, and 4g daily of curcumin for a month, according to Natural Medicines. Turmeric aficionados who also use it as a face mask can relax too; the database indicates it is most likely safe to apply to the skin.

Doctors recommend that patients tell a physician they are taking turmeric. High doses of turmeric and its isolated constituents can have some rather unpleasant side effects, including diarrhea and nausea. Curcumin may also interact with anti-coagulants and anti-platelets, antacids, and drugs used for chemotherapy and to control blood pressure. While the spice is considered safe in food, therapeutic doses should be avoided during pregnancy.

The US Food and Drug Administration does not test dietary supplements such as turmeric for safety and effectiveness but announced this year that it would improve oversight of the growing industry.

One study published in 2018 in Molecular Nutrition & Food Research, found that the cheaper the turmeric product, the more likely it was to have chemical compounds suggestive of synthetic curcumin; and products with turmeric root were more likely to have higher lead levels. One sample exceeded recommended limits for lead.

How about all those turmeric lattes? Doctorssay that sprinkling a little bit of the bitter spice into frothed milk doesnt have proven health benefits. But that doesnt mean it isnt delicious.

As for Garg, he is not closing the bottle cap on curcumin. To wit: he is in the middle of a randomised study with a different preparation and dosing to see if curcumin prevents the progression of kidney disease. There are still many promising things about curcumin and turmeric, he said. I remain open-minded. New York Times

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How The Blue Blood Of The Horseshoe Crab Is Helping Us Detect Bacteria Beyond Earth – Maritime Herald

November 3rd, 2019 12:49 am

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Blue blood of a crab-arachnid in space to detect possible infections of an astronaut in full galactic mission. If this has not caught your attention: Houston, we seem to have a serious problem. As crazy as this first idea may seem, we would not try to make curiosity knock on your door without a good argument. In fact, the statement you just read is true and the blood of the animal you are referring to, is much more important than it seems.

Despite its name, do not be fooled, it is neither a crab, nor has a horseshoe shape. In fact, at first glance it may seem more like a small species of stingray with a built-in shell or even one of those robot vacuum cleaners that leave your living room unpolluted. It could easily be part of the cast of Star Wars alien creatures. As you can imagine, its shape is far from what we would think when talking about a conventional crab.

Disturbing as well as disconcerting, this could be the presentation and a first contact with the Limulus polyphemus, known by his relatives, effectively, as a horseshoe crab. There are five species of these animals, the most common are distributed along the Atlantic coast of the United States and can be observed in the spawning periods, in the sand, on the shores of the sea, explains Xakata Begoa Snchez Chilln, conservative of arthropods of the National Museum of Natural Sciences. The rest of the species are distributed in East and Southeast Asia, where due to their great exploitation they are at high risk of extinction, he adds.

But then, is it a crab or not? As we anticipated, no. According to this study, published in 2019 in the scientific journal Systematic Biology , despite belonging to the group of arthropods, the horseshoe crab family is closer to arachnids than to crustaceans . To make it more visual: throw spiders more than crabs. Of course, unlike spiders, it has 6 pairs of appendages and an exoskeleton or shell that constitutes the union of the head and thorax, says Snchez.

Currently, the comparison of thousands of genes has revealed this new hypothesis , he told Xataka Jesus A. Ballesteros, researcher at the Department of Integrative Biology at the University of Wisconsin-Madison (USA) and one of the study authors. These results require scrutiny and corroboration, but they reveal a part of the complexity of the evolutionary process ; the same processes that have shaped and continue to shape the tree of life of which we are part, he adds.

But it is not the name or form of this curious animal that makes us write about it today, but its blood , both for its appearance and for its medical applications. According to Snchez, the primitive enzymes this animal attack the material of the cell walls of most bacteria , so they are frequently used in tests to detect bacterial endotoxins in numerous pharmaceutical products.

What is special about the horseshoe crabs blood?

As if it were a member of royalty, the blood of our protagonist is blue . While the human is red by a pigment of this color, hemoglobin, and its corresponding iron content; its analogue in this arthropod causes its hemolymph to acquire a different hue.

Hemocyanin (which contains copper instead of iron) is the one that gives blue color to the blood of the horseshoe crab, explains Xataka Susana Enriquez, a researcher at the Institute of Marine Sciences and Limnology (ICML) of the National Autonomous University of Mexico . But the value of this bugs blood resides in cells called amebocytes , which function as their immune system: when they come in contact with endotoxins produced by pathogenic bacteria, they solidify to alert that there is work to be done and start counteracting an infection .

These compounds [endotoxins] are very abundant in the membranes of gram-negative bacteria, which are the majority of those that live in the marine environment, says Xataka Gema Hernndez-Milia, a biologist specializing in marine mammal food ecology. They could be compared to the pieces of a puzzle: the enzymes in their blood cells coincide with the endotoxins and bind to them, creating a clot that prevents the consequences of the bacteria, he adds.

Since being studied, the blood of this crab has been a revolution in the world of medicine . In fact, if youve ever had a flu shot or know someone with a pacemaker, you owe the animal one.

According to the Horseshoes Crab website , developed by the Ecological Research and Development research group, a non-profit organization that has been fighting to conserve the four species of horseshoe crab since 1995, the quality of vaccines, injectable medications, intravenous solutions and medical implants are checked using the blood of this crab.

In addition, the Food and Drug Administration (FDA) has used it since 1970 (the year until rabbit blood was used in this task) to approve medications , making sure they are free of endotoxins. Why? We tell you his story.

Although shallow, the sandy seabed in which the arthropod inhabits, along the east coast of North America and Central America, are often plagued with bacteria . Their own habitat, therefore, poses a threat in itself: in other circumstances, these microorganisms could cause all kinds of infections. Here is the survival key of our protagonist of blue blood.

The primitive immune system of this distant relative of the trilobites is based on a blood coagulation mechanism that protects it from the endotoxins to which it is continuously exposed. The blood cells of the horseshoe crab, the amebocytes, contain proteins that are released in response to the presence of unwanted organisms, such as gram-negative bacteria. In this way, they get their blood to clot around the lesion and bacteria, protecting the animal, the authors explain on the web.

That is, the bacteria are trapped and unable to continue advancing through your body.

This defense mechanism, which was recorded for the first time as early as 1885 and which was studied in depth since the 1950s, is known as Limulus amebocyte lysate (LAL). Its effectiveness is such that it can detect the contamination with endotoxins of Gram-negative bacteria in incredibly low concentrations.

But what does blue blood have to do with space?

We return to the beginning, to our eccentric and first statement: Blue blood of crabs- arachnids in space to detect the possible diseases of an astronaut in full galactic mission. For now, we give the okey to the first concept, but what about the rest? What does this substance have to do with space, astronauts and disease detection?

NASA, through this article on its website, puts us in a situation: Imagine an astronaut on a space mission to Mars, halfway from Earth, which begins to feel bad. His throat hurts and he seems to have a fever, but he does not want to get sick or infect his companions. Should I take an antibiotic? And if so, what kind?

As a solution to this question, NASAs Marshall Space Flight Center developed the LOCAD-PTS (Lab-on-a-Chip Application Development-Portable Test System), a portable device that allows rapid detection of gram- negative pathogenic bacteria in space thanks to the LAL. How?

Thanks to this machine, a possible infection can be detected much faster than it would be to wait for the results of a culture in a Petri dish, explains Enriquez. According to NASA; lets you know if certain types of bacteria are present on the surfaces of space stations.

The reaction occurs with the endotoxins found in the membrane of these bacteria or some fungi (the same happens with the profenoloxidase of the Jonah crab) that allow to detect gram-positive bacteria, he explains to Xataka Hector Socas Navarro, a physicist at the Institute of Astrophysics of the Canary Islands and director of the Museum of Science and Cosmos of Tenerife. These enzymes go in different cartridges of the system, with which the collected sample is reacted, he says.

But its usefulness does not end here: the system not only locates a possible infection, but indicates what type of antibiotics would be necessary to combat such bacteria. It was an interesting development: gram-negative bacteria are among the most pathogenic, responsible for many respiratory, urinary and gastrointestinal diseases in humans, says Enriquez. In addition, he adds, it is the resistant ones that cause the most problems in hospitals.

This test is useful for the astronaut who feels that he is beginning to have health problems. Thanks to it, he can check the causes of the discomfort quickly and stop the infection (if any) at an early stage , long before the disease develops and he himself was a source of bacteria for his companions.

According to Enriquez, when the infection is still incipient, the culture in Petri dishes is not as effective or, at least, it requires more time for the crop to grow and confirm what type of bacteria is growing. As a result, the diagnosis comes later, making the infection more likely to be greater , not only within an astronaut, but within the ship for the entire crew. I think it is a potentially useful tool to quickly slow down the progress of possible infections by gram-negative bacteria, he concludes.

In the words of Socas, this system was also used between 2006 and 2009 to investigate the presence of bacteria and fungi in different places of the International Space Station (ISS). Afterwards, this technique stopped being used, giving way to more sophisticated methods (the PTS did not allow to identify which microorganisms had been detected, something that is possible today with molecular analysis technologies).

Currently, experiments are being carried out with polymerase chain reaction (PCR) that allow amplifying any piece of DNA that is present: make many copies of the fragment and facilitate its detection, Socas says. Several experiments between 2015 and 2016 have allowed us to know more about these bacteria and fungi. The dominant population of microorganisms is associated with the human microbiome , although there may also be opportunistic pathogens.

To avoid confusion, Socas insists that we talk about terrestrial microbes dragged by the missions themselves and the astronauts who have gone to the ISS. Their study is important in order to understand the possible extension of microorganisms carried by humans in future missions and to the health of astronauts, especially considering that there appear to be effects on the immune system of prolonged permanence in space.

In fact, the US National Research Council recommends in the ten-year review of its committee of biological and physical sciences of space that NASA establish a large-scale microbial observation program at the ISS.

Does the horseshoe crab survive after bleeding?

In order to obtain the liquid gold that supposes the blood of the horseshoe crab, the companies capture adult specimens of this species, extract a third of their total blood and release them again. However, these species of xiphosuros have to pay a very high price, since death during the process occurs in about 15% of individuals, says Snchez. Some reports also indicate that this mortality may be even higher due to bad practices during collection and transportation .

This, together with the influence that climate change is having on the seas, makes the four species that exist today are in a serious and growing danger of extinction, he adds.

According to the Ecological Research and Development Group, in 2016 the mortality associated with the production of LAL was around 70,600 animals per year , which shows that the species decreases worldwide given its great use for biomedical tests.

To avoid the possible disappearance of the horseshoe crab, which would be a great loss due to its ecological, agro-livestock and fishing interest , as well as biomedical, studies like this, published in 2018 in the scientific journal PLOS Biology , have investigated similar options, thanks to the that you could enjoy a synthetic alternative to this substance. Unlike LAL, the technique (recombinant Factor C, rFC) would use a cloned arthropod protein as an active ingredient.

The proven efficacy of this alternative to detect endotoxins is an opportunity for the pharmaceutical industry to modernize its procedures and contribute to the conservation of horseshoe crabs, the authors explain at the conclusion of the research: using the CFR would reduce the 90 % in the demand for LAL. That is, the mortality of the horseshoe crab would decrease , according to the research, by about 100,000 specimens annually in North America alone. It is a more humane and more ecologically sustainable method, they conclude.

Source: Xataka

Marketing manager and co-Chief Editor of Maritime Herald.

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Willowbrook-based research facility receives $1.95 million grant to study rare diseases – SILive.com

November 3rd, 2019 12:48 am

The National Institute of Health (NIH) has awarded the Willowbrook-based Institute for Basic Research (IBR) a $1.95 million grant over five years to support the study of rare diseases linked to genetic abnormalities.

Although the state-operated facility has expanded its mission in recent years, scientific research into developmental disabilities has been at the core of IBRs work since its founding more than five decades ago.

In that tradition, the NIH award will fund research led by Dr. Gholson Lyon, an IBR psychiatrist and scientist who heads the Genomic Medicine Laboratory in the Department of Human Genetics.

The grantprovides science investigators who have demonstrated ability to make major contributions to medical science the freedom to embark on ambitious, creative, and/or longer-term research projects, the New York State Office for People With Developmental Disabilities (OPWDD) said in a press release.

According to OPWDD, the research will further understanding of the genetic basis for rare diseases that include Ogden syndrome, which was discovered and named by Dr. Lyon.

Occurring in an estimated one of 1,000,000 births, Ogden syndrome is characterized by craniofacial abnormalities, hypotonia, global developmental delays, cryptorchidism, cardiac anomalies, and cardiac arrhythmias, says OPWDD.

The disease is connected to mutation of the NAA10 gene, which affects the bodys proteins and the ability of cells to proliferate. In addition to Ogden Syndrome, Dr. Lyons clinical studies will also focus on other diseases tied to NAA10, and a related gene, NAA15.

These diseases have a profound impact on families, said Dr. Lyon. I am grateful for this support from OPWDD and [the National Institute of Healths National Institute of General Medical Sciences].

Dr. Lyon also works with families at IBRs George A. Jervis Clinic, which offers diagnostic and consultative services for children and adults with intellectual and developmental disabilities.

In addition to Ogden syndrome and related diseases, Dr. Lyon also researches Fragile X syndrome, autism syndromes, and investigates the physiological basis of neuropsychiatric conditions, with the goal of expanding access to preventive services and treatment for those disorders, according to his online bio.

IBR Acting Director Joseph J. Maturi said, Dr. Lyons extensive medical and scientific training and experience will help him successfully undertake these ambitious and important studies."

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Beam Therapeutics Announces Collaboration and Exclusive License Agreement with Prime Medicine for Prime Editing Technology – Business Wire

November 3rd, 2019 12:48 am

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Beam Therapeutics, a biotechnology company developing precision genetic medicines through base editing, today announced that it has entered into a collaboration and license agreement with a newly-formed company, Prime Medicine, Inc. to research and develop a novel gene editing technology called prime editing, recently developed by one of Beams co-founders, David Liu, Ph.D., and his group at the Broad Institute of Harvard and MIT.

Under the agreement, Beam has the exclusive right to develop prime editing technology for the creation or correction of any single-base transition mutations, as well as for the treatment of sickle cell disease, both of which Beam is already pursuing with its base editing technology. Transition mutations (e.g. A to G, C to T) are the largest single class of disease-associated genetic mutations, and are also potentially treatable with base editing. Beam plans to evaluate prime editing technology for potential use in future programs.

Part of Beams strategy is to continue to access emerging technologies in gene editing and delivery, while finding new ways to create meaningful options for patients. Our collaboration with, and contribution to the formation of, Prime Medicine is a great example of that approach, allowing us to incorporate prime editing into the Beam platform, said John Evans, chief executive officer of Beam. This partnership enables both companies to advance the technology in distinct spaces, with Beam focusing on the kinds of edits that are most similar to our base editing technology.

As part of the collaboration, Beam is providing initial interim leadership to Prime Medicine for the first year of the collaboration, and will have the right to designate a member on Prime Medicines board. The parties will also grant each other non-exclusive licenses to certain CRISPR technology and delivery technology to enable the development of prime editing products.

About Beam Therapeutics

Beam Therapeutics is developing precision genetic medicines through base editing. Founded by leading scientists in CRISPR gene editing, Beam is pursuing therapies for serious diseases using its proprietary base editing technology, which can make precise edits to single base pairs in DNA and RNA. Beam is headquartered in Cambridge, Massachusetts. For additional information, visit http://www.BeamTx.com.

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Myriad Genetics Announces Multiple Presentations at the 2019 American College of Rheumatology Annual Meeting – BioSpace

November 3rd, 2019 12:48 am

SALT LAKE CITY, Nov. 01, 2019 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, today announced that three studies on Vectra will be featured at the 2019 American College of Rheumatology (ACR) Annual Meeting being held Nov. 8-13, 2019 in Atlanta, GA.

"We are excited to share important new data that demonstrates how precision medicine can advance care for people with rheumatoid arthritis (RA)," said Elena Hitraya, M.D., Ph.D., rheumatologist and chief medical officer at Myriad Autoimmune. "Our studies show that Vectra, an objective measure of RA inflammation, helps identify people with RA that are at risk of joint damage and cardiovascular risk.

A list of presentations at 2019 ACR is below. Please visit Myriad Autoimmune at booth #1419 to learn more about Vectra. Follow Myriad on Twitter via @myriadgenetics and follow meeting news by using the hashtag #ACR19.

Abstract

Author

Poster Details

Vectra

Predicting Risk of Radiographic Progression for Patients with Rheumatoid Arthritis

Jeffrey Curtis

Joshua Baker

Jeffrey Curtis

About VectraVectra is a multi-biomarker molecular blood test that provides an objective and personalized measure of inflammatory disease activity in patients with rheumatoid arthritis. Vectra provides unsurpassed ability to predict radiographic progression and can help guide medical management decisions with the goal of improving patient outcomes. Vectra testing is performed at a state-of-the-art CLIA (Clinical Laboratory Improvement Amendments) facility. Test results are reported to the physician five to seven days from shipping of the specimen. Physicians can receive test results by fax or the private web portal, VectraView. For more information on Vectra, please visit: http://www.vectrascore.com.

About Myriad GeneticsMyriad Genetics Inc. is a leading precision medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on five critical success factors: building upon a solid hereditary cancer foundation, growing new product volume, expanding reimbursement coverage for new products, increasing RNA kit revenue internationally and improving profitability with Elevate 2020. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice HRD, EndoPredict, Vectra, GeneSight, riskScore, Prolaris, Foresight and Prequel are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Safe Harbor StatementThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to data being presented for its genetic tests at the American College of Rheumatology Annual Meeting being held Nov. 8-13, 2019 in Atlanta, GA; and the Company's strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decision in the lawsuit brought against us by the Association for Molecular Pathology et al; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

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CMS on how life sciences advancements are improving patient care – The Scotsman

November 3rd, 2019 12:48 am

When the UK Life Sciences Champion Sir John Bell recently highlighted the need to create new industries within life sciences, Carina Healy immediately saw the potential for Scotland.

When the UK Life Sciences Champion Sir John Bell recently highlighted the need to create new industries within life sciences, Carina Healy immediately saw the potential for Scotland.

Sir John, speaking at the Medicines and Healthcare Products Regulatory Agency, identified genomics, digital health and early diagnosis as three areas where the UK could develop new industries and remain a world leader in life sciences.

Healy, a partner and life sciences specialist with international legal firm CMS, says: These areas play into what we do well in Scotland and present very big opportunities. Healy goes on to explain these new industries and the potential they hold for Scotland.

Genomics using genotyping to inform how patients are treated is closely linked to precision or stratified medicine, where Scotland is already excelling.

Precision medicine allows doctors to tailor treatments to each patients specific needs, which can save lives, avoid unpleasant side-effects caused by unsuitable treatments and save the NHS money.

Scotland has great expertise in this area, with world-class academic research and cutting-edge companies developing new treatments to benefit the NHS. This is backed by innovative initiatives such as the Stratified Medicine Scotland Innovation Centre based at the Queen Elizabeth University Hospital (QEUH) in Glasgow, which brings together specialists from across academia, industry and the NHS.

One challenge facing this new industry is how to use the wealth of genetic data now available to inform medical treatment. Although genetic testing is getting increasingly more affordable, further research is needed to link that genetic data to specific diseases and treatment options.

As Healy explains: The technology is there, but it doesnt tell you much yet. However, in areas like breast cancer, the use of the BRCA and HER-2 biomarkers is well-established and gives a clear indication of whether a certain class of patient is at risk or will respond to a specific drug like Herceptin.

Healy says that, in the hospital of the future, an individuals genetic profile is likely to be available in the same way as access to, for example, an individuals blood type. She says: Were still quite far away, but weve decoded the genome and can do it cost-effectively. With further research we will be able to know how to make best use of this data to deliver more effective health care for individual patients.

A UK government science and innovation audit of precision medicine in Scotland this year, led by the University of Glasgow, highlighted the significant assets Scotland has in this field and their potential. It suggested the effective use of electronic health records could drive collaboration and help turn academic research and innovation into better clinical practice.

Healy says the universitys bid for a Strength in Places grant to create a Living Laboratory for precision medicine at QEUH is an excellent example of how Scotland can bridge the gap between genomics research and patient benefit.

Digital health, which uses software, mobile apps and digital technology for health purposes, is an area where Healy thinks Scotland has work to do but has all the key skills in place to make real progress.

We have real strength in informatics, data science and AI in our academic research institutions, she says. Although we need to integrate those sectors better with life sciences and healthcare. The potential is there to build real capacity and deliver tangible patient benefits.

In terms of digital health, this means making healthcare more efficient through use of digital technology, and improving the patient-facing offering.

Scotland has great assets in the IT sector generally, from Silicon Glen to the burgeoning technology scene in Edinburgh. The capital is set to receive further investment in technology infrastructure as part of the 1.3 billion Edinburgh City Region Deal, which will focus on data-driven innovation and help boost Scotlands existing capabilities.

The key to realising Scotlands potential in the new digital health industry will be in linking the countrys digital expertise with its life sciences expertise to create new solutions. Work to link Scotlands technology and life sciences industries has already begun. Exscientia, a company founded in Dundee, has been at the forefront of using digital technology to improve the drug discovery process, resulting in several collaborations this year with big-name drugs companies.

Further collaboration between the two industries will be supported by Glasgows Industrial Centre for Artificial Intelligence Research in Digital Diagnostics iCAIRD which involves 15 partners from across academia, industry and the NHS.

Healy stresses that although collaboration between private companies and the NHS has huge potential benefits, these collaborations must be structured correctly. It is especially important to address ethical and legal issues in accessing and managing patients data.

The collaboration between Googles DeepMind and Londons Royal Free Hospital, which involved the transfer of personal data of 1.6 million patients, was an example of a collaboration that was not structured correctly and was found to be in breach of data protection laws. Healy says: This erodes public trust in these types of initiatives, despite the very obvious benefits in healthcare treatment that can be generated.

Despite this setback, DeepMinds Streams app is now in use at the Royal Free Hospital and has been shown to enable consultants to treat acute kidney injury faster, potentially saving the NHS on average 2,000 per patient and saving consultants up to two hours per day.

The great advantage for Scotland is that we have one NHS. We can access data sources more easily and we can pool it more effectively, says Healy. However, practices can vary across different hospitals and trusts, and clear central guidance would be helpful to ensure data is used both ethically and effectively.

There are also issues around data quality as it is, of course, collected for clinical purposes, not for research or for training artificial intelligence systems.

The ultimate goal is to pool data for patient benefit, and to structure collaborations between private companies and the NHS carefully so personal data is managed appropriately.

There are also potential societal and political issues around ensuring all patients can benefit from digital health initiatives, for example in areas like GP surgery triage. Systems such as Babylon and DrDoctor allow patients remote access to GP services, but often benefit specific groups rather than the whole population.

Younger, more IT-literate patients who have a specific issue but are generally healthier tend to use systems like this, while older, less IT-savvy patients with chronic conditions still go to GP surgeries, says Healy. So GP surgeries are left with patients who need more care and time, but the funding per patient is the same. The digital health gap between different generations will close over time, but it is still quite wide now.

Overall, Healy notes, the message is that digital health offers huge opportunities in Scotland:

We need to encourage more health tech businesses to work with the NHS in Scotland and get more entrepreneurs looking at this area. There are big opportunities for new entrants.

In the third new life sciences industry, early diagnostics, Healy also sees a huge area of unmet need and opportunity in Scotland. She cites image recognition AI, where, for example, training an artificial intelligence system using large numbers of CT scans can mean tumours are spotted more quickly and accurately than using a surgeons eye, leading to earlier diagnosis, which in turn means more successful treatment for patients and potential savings for the NHS.

Scottish-based companies, including Canon Medical Research Europe, are exploring how technology such as AI can help with early diagnosis. Canons research, supported by the Scottish Funding Council, is looking for innovative ways to diagnose and measure mesothelioma tumours, which are particularly difficult to measure and treat.

Collaborations between Scottish companies and the NHS which capitalise on the organisations pool of health data will be a big boost to research and development of early diagnostics, particularly with the help of AI.

Although Healy recognises the challenges in collaborating on such projects, she is positive about the future: It can still be hard to break down NHS silos and work through its contracting processes. However, Scotlands strength is underpinned by excellent collaboration between the NHS, academia and industry. You can see it working in projects like iCAIRD and the QEUHs Clinical Innovation Zone.

Healy sees this as a good reason for Scotland to be positive about its life sciences industry and its opportunity to make the most of Sir Johns three new industries genomics, digital health and early diagnostics. It all comes back to that strong, deep collaboration. We need to build on that and keep selling Scotlands strengths to a wider global marketplace.

Our academic base is really strong, we have one NHS with very good electronic health records and the ability of industry to collaborate across different academic and NHS bodies to deliver positive patient outcomes.

Find out more at CMS.

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Blood test can predict prognosis in deadly brain cancer – Penn: Office of University Communications

November 3rd, 2019 12:48 am

A blood test that measures the amount of cell-free DNA (cfDNA) in the bloodstreamcalled a liquid biopsycorrelates with how patients will progress after they are diagnosed with glioblastoma (GBM), the deadliest and most common primary brain tumor in adults

In a new study, researchers from theAbramson Cancer Center are the first to show that patients with a higher concentration of cfDNAcirculating DNA that cancer and other cells shed into the bloodhave a shorter progression-free survival than patients with less cfDNA, and that cfDNA spikes in patients either at the time of or just before their disease progresses. The team also compared genetic sequencing of solid tissue biopsies in GBM side-by-side with the liquid biopsies and found that while both biopsies detected genetic mutations in more than half of patients, none of those mutations overlapped, meaning liquid biopsy may provide complementary information about the molecular or genetic makeup of each tumor.Clinical Cancer Research, a journal of the American Association for Cancer Research,published the findings.

Doctors have begun using liquid biopsies more frequently to monitor certain cancersparticularly lung cancerin recent years as research has shown their effectiveness in other disease sites. But until now, there has been little focus on the clinical utility of liquid biopsy in brain tumors, said the studys senior authorErica L. Carpenter, director of the Liquid Biopsy Laboratory and a research assistant professor of medicine.

The findings may eventually prove impactful for GBM patients. The disease is particularly aggressive, and while most estimates show there are around 11,000 new cases each year, the five-year survival rate is between 5and 10 percent.

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Genome Sequencing In NICU Can Speed Diagnosis Of Rare Inherited Diseases : Shots – Health News – NPR

November 3rd, 2019 12:48 am

Nathaly Sweeney, a neonatologist at Rady Children's Hospital-San Diego and researcher with Rady Children's Institute for Genomic Medicine, attends to a young patient in the hospital's neonatal intensive care unit. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

Nathaly Sweeney, a neonatologist at Rady Children's Hospital-San Diego and researcher with Rady Children's Institute for Genomic Medicine, attends to a young patient in the hospital's neonatal intensive care unit.

When Nathaly Sweeney launched her career as a pediatric heart specialist a few years ago, she says, it was a struggle to anticipate which babies would need emergency surgery or when.

"We just didn't know whose heart was going to fail first," she says. "There was no rhyme or reason who was coming to the intensive care unit over and over again, versus the ones that were doing well."

Now, just a few years later, Sweeney has at her fingertips the results of the complete genome sequence of her sickest patients in a couple of days.

That's because of remarkable strides in the speed at which genomes can be sequenced and analyzed. Doctors who treat newborns in the intensive care unit are turning to this technology to help them diagnose their difficult cases.

Sweeney sees her tiny patients in the neonatal intensive care unit of Rady Children's Hospital in San Diego. Doctors there can figure out what's wrong with about two-thirds of these newborns without a pricey DNA test. The rest have been medical mysteries.

"We had patients that were lying here in the hospital for six or seven months, not doing very well," she says. "The physicians would refer them for rapid genome sequencing and would diagnose them with something we didn't even think of!"

Rady's Institute for Genomic Medicine, which has been pioneering this technology, has now sequenced the genomes of more than 1,000 newborns.

In a building across the street from the hospital, three $1 million sequencing machines form the core of the operation. Technicians tending to the NovaSeq 6000s can put DNA from babies (and often their parents) into the machine in the late afternoon and have a complete genome sequence back by 11 a.m. or noon the next day, says clinical lab scientist Luca Van der Kraan.

That fact is worth repeating: An entire genome is decoded in about 16 hours.

Kasia Ellsworth is one of the experts waiting in a nearby office to analyze the information. That task has shrunk from months to typically just four hours, thanks to increasingly sophisticated software.

Ellsworth inputs the baby's symptoms into the software, which then spits out a long list of genetic variants that might be related to the illness. She scrolls down the screen.

"I'm looking through a list of those variants and then basically deciding whether something may be truly contributing to the disease or not," she says.

About 40% of the time, a gene stands out, giving doctors a tentative diagnosis. Follow-up tests are often requested, and those can take several days. But in the meantime, doctors can sometimes act on the information they have in hand.

When she or a colleague makes a diagnosis, "You always feel very relieved, very happy and excited," she says. "But at the same time you kind of need to put it in perspective. What does it mean for the family, for the patient, for the clinician as well?"

Often it's a sense of relief. And for a minority of cases, it can affect the baby's treatment.

"We now are at the point where I think the evidence is overwhelming that a rapid genome sequence can save a child's life," says Dr. Stephen Kingsmore, the institute's director and the driving force behind this revolution.

By his reckoning, the results change the way doctors manage these cases about 40% of the time.

Treatments are available for only a small share of these rare diseases. In other cases, the information can help parents and doctors understand what's wrong with their baby even if there is no treatment or learn whether death is inevitable. "And there it's a very different conversation," Kingsmore says. "We help guide parents through picking an appropriate point at which to say enough is enough" and to end futile treatments.

Of course, Kingsmore highlights the happier outcomes. One example is a bouncy girl named Sebastiana, now approaching her third birthday.

As a newborn, Sebastiana Manuel was diagnosed with a rare disease after rapid genome sequencing. She is seen here at 11 months of age. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

As a newborn, Sebastiana Manuel was diagnosed with a rare disease after rapid genome sequencing. She is seen here at 11 months of age.

He showed off her case recently in front of the Global Genes conference, a meeting of families with rare genetic conditions.

"She was critically ill in our intensive care unit," he tells the audience, "and in a couple of days we gave the doctors the answer. It's Ohtahara syndrome. It comes with this specific therapy. And she hasn't had a seizure in 2 1/2 years. She doesn't take any medication."

The audience applauds enthusiastically at an outcome that sounds miraculous. But when you meet Sebastiana and her mother, Dolores Sebastian, a more complicated story emerges.

Ohtahara syndrome isn't actually what made Sebastiana ill it's a term doctors use to describe newborn seizures. Those are actually a symptom of deeper brain issues. That was apparent the day she was born.

"She was acting weird and screaming and crying and turning purple and we weren't sure why," her mother says.

The hospital where Sebastiana was born rushed her to the neonatal intensive care unit, across town at Rady. She was having frequent seizures. The following days were a nightmare for Sebastian and her husband.

"I can't even describe it," she says. "I always keep on saying that at that moment I was kind of like dead, but I was walking."

The hospital ran a battery of tests to look for severe brain damage. They couldn't get to the bottom of it.

"They came in and offered us the genomic testing," Sebastian said. "They never told us how quick it would be."

She was surprised when the results were back in four days. The doctor told her they had identified a gene variant that can trigger seizures as well as do other harm to the brain.

"He said this is how we're going to go ahead and change her medications now and treat her," she says. And that made a "huge difference, [an] amazing difference."

Sebastiana was already on a medication that was helping control her seizures, but they sedated her to the extent that she needed a feeding tube. On the new medication, carbamazepine, she was alert and able to eat, and her seizures were still under control. Sebastian says her daughter is still taking that drug.

Controlling her seizures isn't a cure. Children who have this genetic variant, in a gene called KCNQ2, can have a range of symptoms from benign to debilitating. Sebastiana falls somewhere in between. For example, she has only a few words in her vocabulary as she approaches the age of 3.

"She took her first steps when she was 2 years old, so she's delayed in some things," Sebastian says, "but she's catching up very quickly. She has [physical therapy]; she's going to start speech therapy. She gets a lot of help but everything's working."

Sebastiana Manuel (second from left) with members of her family: Domingo Manuel Jr. (from left), Dolores Sebastian and Tony Manuel. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

Sebastiana Manuel (second from left) with members of her family: Domingo Manuel Jr. (from left), Dolores Sebastian and Tony Manuel.

KCNQ2 variants are the most common genetic factor in epilepsy, causing about a third of all gene-linked cases and about 5% of all epilepsies. Sebastiana's case could have been diagnosed with a less expensive test. For example, Invitae geneticist Dr. Ed Esplin says his company offers a genetic screen for epilepsy that has a $1,500 list price and a two-week turnaround.

Rady's whole-genome test costs $10,000, Kingsmore says. But it casts a wider net, so it might provide useful information if a baby's seizures are caused by something other than epilepsy.

And Kingsmore says his test costs about as much as a single day in the NICU. "In some babies we avoid them being in the intensive care unit literally for months," he says.

Kingsmore and colleagues have published some evidence that their approach is cost-effective, based on an analysis of 42 cases.

Even so, most insurance companies and state Medicaid programs are still balking at the cost. Kingsmore says private donors are helping support this effort at Rady, which sequences about 10% of the babies in the NICU, and at more than a dozen others scattered from Honolulu to Miami. They send their samples to Rady for analysis.

Kingsmore is pushing to expand his network in the next few years, to reach 10,000 babies at several hundred children's hospitals.

Other providers are also starting to offer whole-genome sequencing. But Dr. Isaac Kohane, chair of the department of biomedical informatics at Harvard Medical School, worries that the technology is too unreliable.

Knowledge of genes and disease is evolving rapidly, so these analyses run the risk of either missing a diagnosis or making a mistaken one. Kohane says there's still a lot of dubious information there a typical person has 10 to 40 gene variants that the textbooks incorrectly identify as causing disease.

Kohane is part of a medical network that helps diagnose people with baffling diseases. A study from 2018 found "a third of the patients who actually come to us already had full genome sequences and interpretations," Kohane says. "They were just not correct."

Even so, Kohane sees this use in the NICU as a relatively fruitful use of gene sequencing. "This is one of the few areas where I think the Human Genome Project is really beginning to pay off in health care," he says, "but buyer beware, it's not something ready to be practiced in every hospital." (He supports the work at Rady in fact, he is a science adviser.)

Kingsmore is already looking ahead. "We want to solve the next bottleneck, which is, 'I don't have a great treatment for this baby,' " he says. That's a far greater challenge, and it's especially difficult for a mutation that has altered a baby's development in the womb. Those problems may often not be reversible.

Kingsmore is undeterred. "It's going to be an incredibly exciting time in pediatrics," he says.

You can contact NPR science correspondent Richard Harris at rharris@npr.org.

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Veracyte Announces New Data That Advance Understanding of Genomic Alterations Targeted by Precision Medicine Therapies for Thyroid Cancer – Business…

November 3rd, 2019 12:48 am

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Veracyte, Inc. (Nasdaq: VCYT) today announced new data that advance understanding of the frequency, positive predictive value and co-occurrence of genomic alterations that are targeted by newly available and investigational precision medicine therapies for thyroid cancer. The findings were enabled by Afirma Xpression Atlas analyses, which uses RNA sequencing, of Veracytes extensive biorepository of thyroid nodule fine needle aspiration (FNA) samples from patients undergoing evaluation for thyroid cancer. The data were presented this week during the 89th Annual Meeting of the American Thyroid Association (ATA).

In one study, researchers assessed the frequency of ALK, BRAF, NTRK and RET fusions in nearly 48,000 consecutive patients whose thyroid nodule FNA samples were deemed indeterminate, suspicious for malignancy or malignant (Bethesda III/IV, V and VI categories, respectively) by cytopathology. The researchers found that 425 (0.89 percent) of the FNA samples harbored one of the alterations, with NTRK fusions the most common at 0.38 percent, followed by RET (0.32 percent), BRAF (0.13 percent) and ALK (0.06 percent). Additionally, RNA whole transcriptome sequencing demonstrated differences in the prevalence of these four fusions across Bethesda categories, with Bethesda V being the highest.

NTRK fusion inhibitors have received pan-cancer FDA approval and clinical trials have included selective inhibitors of ALK, BRAF, NTRK and RET, which makes their detection in patients with thyroid cancer of interest to physicians, said Mimi I. Hu, M.D., professor at The University of Texas MD Anderson Cancer Center, who presented the findings in a poster. As our understanding of the role of genomics in thyroid cancer advances, this information offers the potential to optimize initial treatment, predict response to treatment and prioritize selective targeted therapy should systemic treatment be needed.

In another study, researchers evaluated the positive predictive value of the NTRK, RET, BRAF and ALK fusions in 58 patients with indeterminate thyroid nodules (Bethesda III/IV categories) from Veracytes biorepository for whom surgical pathology diagnoses were available. They found that NTRK and RET fusions were associated with malignancy in 28 of 30 nodules, while risk of malignancy was lower among nodules with ALK (67 percent) or BRAF (75 percent). In a third study, researchers found that when using RNA sequencing data on a large sample of nearly 48,000 thyroid nodule FNA samples (Bethesda categories III-VI), they identified 263 co-occurrences of gene fusions and variants that were previously considered mutually exclusive.

The findings from these three studies underscore the power of our extensive biorepository of thyroid nodule FNA samples and our optimized RNA sequencing platform to advance understanding of the genomic underpinnings of thyroid cancer and to better capture the biology of thyroid lesions, said Richard T. Kloos, M.D., senior medical director, endocrinology, at Veracyte. As precision medicine therapies that target specific gene alterations emerge, understanding individual patients genomic profiles becomes increasingly important to physicians. Our Afirma Xpression Atlas provides this information at the same time as initial diagnosis with the Afirma Genomic Sequencing Classifier, or GSC, to help inform treatment decisions.

Also during the ATA meeting, Veracyte unveiled its new Afirma patient report, which in addition to identifying patients with benign or suspicious-for-cancer nodules among those deemed indeterminate by cytopathology, based on Afirma GSC results, now provides individualized and actionable variant and fusion information on each patient. This information includes: risk of malignancy, associated neoplasm type, relative risk of lymph node metastasis and extrathyroidal extension; availability of FDA-approved therapy; and genetic counseling and germline testing considerations. This information is also provided for patients with cytopathology results that are suspicious for malignancy or malignant (Bethesda V and VI).

About Afirma

The Afirma Genomic Sequencing Classifier (GSC) and Xpression Atlas provide physicians with a comprehensive solution for a complex landscape in thyroid nodule diagnosis. The Afirma GSC was developed with RNA whole-transcriptome sequencing and machine learning and helps identify patients with benign thyroid nodules among those with indeterminate cytopathology results in order to help patients avoid unnecessary diagnostic thyroid surgery. The Afirma Xpression Atlas provides physicians with genomic alteration content from the same fine needle aspiration samples that are used in Afirma GSC testing and may help physicians decide with greater confidence on the surgical or therapeutic pathway for their patients. The Afirma Xpression Atlas includes 761 DNA variants and 130 RNA fusion partners in over 500 genes that are associated with thyroid cancer.

About Veracyte

Veracyte (Nasdaq: VCYT) is a leading genomic diagnostics company that improves patient care by providing answers to clinical questions that inform diagnosis and treatment decisions without the need for costly, risky surgeries that are often unnecessary. The company's products uniquely combine RNA whole-transcriptome sequencing and machine learning to deliver results that give patients and physicians a clear path forward. Since its founding in 2008, Veracyte has commercialized seven genomic tests and is transforming the diagnosis of thyroid cancer, lung cancer and idiopathic pulmonary fibrosis. Veracyte is based in South San Francisco, California. For more information, please visit http://www.veracyte.com and follow the company on Twitter (@veracyte).

Cautionary Note Regarding Forward-Looking Statements

This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995. Forward-looking statements can be identified by words such as: "anticipate," "intend," "plan," "expect," "believe," "should," "may," "will" and similar references to future periods. Examples of forward-looking statements include, among others, the ability of Veracytes Afirma Xpression Atlas to analyze FNA samples to help diagnose thyroid cancer, the expected impacts of Veracytes collaboration with Johnson & Johnson in developing interventions for lung cancer, on Veracytes financial and operating results, on the timing of the commercialization of the Percepta classifier, and on the size of Veracytes addressable market. Forward-looking statements are neither historical facts nor assurances of future performance, but are based only on our current beliefs, expectations and assumptions. These statements involve risks and uncertainties, which could cause actual results to differ materially from our predictions, and include, but are not limited to: our ability to achieve milestones under the collaboration agreement with Johnson & Johnson; our ability to achieve and maintain Medicare coverage for our tests; the benefits of our tests and the applicability of clinical results to actual outcomes; the laws and regulations applicable to our business, including potential regulation by the Food and Drug Administration or other regulatory bodies; our ability to successfully achieve and maintain adoption of and reimbursement for our products; the amount by which use of our products are able to reduce invasive procedures and misdiagnosis, and reduce healthcare costs; the occurrence and outcomes of clinical studies; and other risks set forth in our filings with the Securities and Exchange Commission, including the risks set forth in our quarterly report on Form 10-Q for the quarter ended September 30, 2019. These forward-looking statements speak only as of the date hereof and Veracyte specifically disclaims any obligation to update these forward-looking statements or reasons why actual results might differ, whether as a result of new information, future events or otherwise, except as required by law.

Veracyte, Afirma, Percepta, Envisia and the Veracyte logo are trademarks of Veracyte, Inc.

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For synthetic biology to reach its potential, building new chromosomes from scratch must become commonplaceand we may be getting close – Genetic…

November 3rd, 2019 12:48 am

Understand biology and engineer biology. These are the goals of synthetic biology in brief. Due to the developments in sequencing and DNA synthesis, scientists can construct genetic constructs and edit genomes. These tools answer basic research questions and provide biological applications. But synthetic biology can never reach its full potential until artificial genome writing becomes commonplace.

Chromosomes are the hard drives of cells. They contain most of the cells DNA and genes. Bacteria and archaea typically have a single circular chromosome, while eukaryotes contain several linear ones. Besides genetic information, a chromosome contains structural elements. Centromers (that participate in mitosis), telomers (that have a role in maintaining linear chromosome integrity), and origins of replication (that are where DNA replication starts in circular DNA pieces) are some well-known examples.

Artificial chromosomes are chromosomes that have been fully constructed in the lab and assembled within a cell. An important note: artificial chromosomes do not mean artificial life. They function normally within cells and the DNA used is the same as the one found in nature. What is different is their origin they dont come from a DNA template duplication and the genetic information they carry.

The advantages of building a chromosome align with both goals of synthetic biology. The role of many DNA elements is unknown. By recombining, adding, or deleting DNA sequences, we can understand if a genetic part is essential and what does it do. By rewriting a genome from scratch, we can obtain a cell with specific properties and only them! Such cells are invaluable tools for applied and fundamental research.

Current DNA technology makes the construction of short DNA pieces easy and available to most research labs, but the same cannot be said for chromosome assembly. And this is not surprising: a plasmid with a few genes contains a few thousand base pairs; a chromosome several million or billion! As a result, there are very few reported artificial chromosomes reported. The emblematic Yeast 2.0 consortium reported the construction and assembly of six of the yeasts chromosomes. A research group from Switzerland designed and assembled a full bacterial chromosome with its genome minimized to the essential components; so far, they havent managed to insert the chromosome to the organism. A minimal bacterial cell with a synthetic genome was nevertheless announced in 2016 by J. Craig Venter Institute scientists. And recently the molecular biology workhorse, the bacterium E. coli, got its genome replaced by a synthetic variant.

All these works required a huge amount of resources and faced tremendous challenges. And despite the successes, we are a long way from mastering the craft of genome writing. In a recent article, Nili Ostrov and her collaborators in the field of synthetic genomics outline the technological advances needed to reach this goal. They list the following areas of focus: genome design, DNA synthesis, genome editing, and chromosome assembly.

Designing the synthetic chromosome is the first step of a construction workflow. And this step is probably the most critical, as an error there will condemn the whole effort into failure. The information hidden into a genome is too vast to be handled manually. This requires computer aided design tools, which are currently under development. These tools should also predict the effect of alterations in the sequence. Ideally, design software should model how a cell will behave when the synthetic genome replaces its native one.

Chemical DNA synthesis can provide DNA oligos a few hundred base pairs long. This is simply not good enough for chromosome synthesis. DNA synthesis will need to reach the scale of several thousand base pairs, decrease its error rate. And the assembly workflows should minimize the need of iterative cloning steps.

Genome editing is the key to generate many synthetic genome variants. Constructing a chromosome de novo will always be laborious. Genome editing will reduce the need of reconstructing from scratch when we need to insert a few (say, a few thousand) mutations to mimic a certain phenotype. Multiplex genome editing already exists. But instead of 20-50 edits, the techniques should allow for many thousand.

The last step of chromosome writing is the assembly of the final construct. Throwing the smaller DNA parts inside a bakers yeast cell and use its DNA repair system to stitch them up is how its currently done, and it works well. However, the yeast has limitations on what kind of DNA sequences it can work with. For a bigger variety of constructs, we will need more hosts and transformation methods.

Genome writing will accelerate the synthetic biology and genetic engineering applications. In medicine, engineered cells could become accurate disease models, increasing therapeutic efficiency and reducing the need for animal testing. In agriculture, plant cells with engineered genome or plastome can guide breeding and editing efforts to increase productivity and crop robustness. In metabolic engineering, cells will produce compounds optimally. And if we want to adapt organisms for life beyond earths boundaries, chromosome editing will let us test radical redesigns and insert novel properties.

Ostrov and collaborators write that many of the technological breakthroughs can be achieved within the next years. It sounds a bit optimistic, but lets hope we will be pleasantly surprised. Chromosome engineering has the potential to benefit all humankind, but we should be careful to not overhype the potential and promise things we cant deliver. And as the authors say and I couldnt agree more we have to be transparent, ethical, and share the advances globally.

Kostas Vavitsas, PhD, is a Senior Research Associate at the University of Athens, Greece. He is also community editor for PLOS Synbio and steering committee member of EUSynBioS. Follow him on Twitter @konvavitsas

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Abort to Save a Child From a Life of Suffering? – The New York Times

November 3rd, 2019 12:48 am

If you cannot say yes, then you should keep your mouth shut and thank God every day that you never had to make such a truly hard decision.

Deborah KratterHalf Moon Bay, Calif.

To the Editor:

Im a young, female pro-life activist. Ive donated to pro-life organizations. Spread pro-life information to others. Marched in the streets. Abortion is a massive injustice that violates the right to life.

Ms. Werking-Yip, you admitted that having an abortion meant killing your daughter. Picture someone murdering a 5-year-old girl because they believed she was too sick, too disabled, too abnormal. Society would be horrified. Strangely, its different for a child in a womb.

Every child deserves a chance to live life as much as possible, to stay strong against suffering, to hope for cures to rare disorders, to spend time with loved ones, to be themselves, to be human. Your daughter would have been a gift for this world, an inspiration to others, unique, beautiful. Dont diminish this precious creation of God by arguing that she doesnt deserve to be here.

Jasmine ClarkRaleigh, N.C.

To the Editor:

Having just finished reading Lyndsay Werking-Yips heart-wrenching column, I must say how much I admire the strength she and her husband showed not just in terminating their pregnancy but also in writing openly about their decision.

I have two daughters who are both in week 21 of their first pregnancies. If either of them is faced with a diagnosis as devastating as Ms. Werking-Yips, I hope to God they will make the decision she did with her husband to save a child from a lifetime of suffering. To me that is the definition of parental love.

Carrie C. MahinRadford, Va.

To the Editor:

Six weeks after our daughter was born in 1981, we received the diagnosis following a routine CT scan of her brain. She had suffered a massive stroke to the left temporal lobe, most likely in utero. We were told there were a range of possible outcomes in terms of her development and degree of physical and cognitive impairment.

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What is ‘IndiGen’ project that is sequencing Indian genes? – The Hindu

November 3rd, 2019 12:48 am

The story so far: The Council of Scientific and Industrial Research (CSIR) recently announced the conclusion of a six-month exercise (from April 2019) of conducting a whole-genome sequence of a 1,008 Indians. The project is part of a programme called IndiGen and is also seen as a precursor to a much larger exercise involving other government departments to map a larger swathe of the population in the country. Project proponents say this will widen public understanding in India about genomes and the information that genes hide about ones susceptibility to disease.

A genome is the DNA, or sequence of genes, in a cell. Most of the DNA is in the nucleus and intricately coiled into a structure called the chromosome. The rest is in the mitochondria, the cells powerhouse. Every human cell contains a pair of chromosomes, each of which has three billion base pairs or one of four molecules that pair in precise ways. The order of base pairs and varying lengths of these sequences constitute the genes, which are responsible for making amino acids, proteins and, thereby, everything that is necessary for the body to function. It is when these genes are altered or mutated that proteins sometimes do not function as intended, leading to disease.

Sequencing a genome means deciphering the exact order of base pairs in an individual. This deciphering or reading of the genome is what sequencing is all about. Costs of sequencing differ based on the methods employed to do the reading or the accuracy stressed upon in decoding the genome. Since an initial rough draft of the human genome was made available in 2000, the cost of generating a fairly accurate draft of any individual genome has fallen to a tenth, or to a ball park figure of around $1,000 (70,000 approximately). It has been known that the portion of the genes responsible for making proteins called the exome occupies about 1% of the actual gene. Rather than sequence the whole gene, many geneticists rely on exome maps (that is the order of exomes necessary to make proteins). However, it has been established that the non-exome portions also affect the functioning of the genes and that, ideally, to know which genes of a persons DNA are mutated the genome has to be mapped in its entirety. While India, led by the CSIR, first sequenced an Indian genome in 2009, it is only now that the organisations laboratories have been able to scale up whole-genome sequencing and offer them to the public.

Under IndiGen, the CSIR drafted about 1,000 youth from across India by organising camps in several colleges and educating attendees on genomics and the role of genes in disease. Some students and participants donated blood samples from where their DNA sequences were collected.

Globally, many countries have undertaken genome sequencing of a sample of their citizens to determine unique genetic traits, susceptibility (and resilience) to disease. This is the first time that such a large sample of Indians will be recruited for a detailed study. The project ties in with a much larger programme funded by the Department of Biotechnology to sequence at least 10,000 Indian genomes. The CSIRs IndiGen project, as it is called, selected the 1,000-odd from a pool of about 5,000 and sought to include representatives from every State and diverse ethnicities. Every person whose genomes are sequenced would be given a report. The participants would be informed if they carry gene variants that make them less responsive to certain classes of medicines. For instance, having a certain gene makes some people less responsive to clopidogrel, a key drug that prevents strokes and heart attack. The project involved the Hyderabad-based Centre for Cellular and Molecular Biology (CCMB), the CSIR-Institute of Genomics and Integrative Biology (IGIB), and cost 18 crore.

Anyone looking for a free mapping of their entire genome can sign up for IndiGen. Those who get their genes mapped will get a card and access to an app which will allow them and doctors to access information on whether they harbour gene variants that are reliably known to correlate with genomes with diseases. However, there is no guarantee of a slot, as the scientists involved in the exercise say there is already a backlog. The project is free in so far as the CSIR scientists have a certain amount of money at their disposal. The driving motive of the project is to understand the extent of genetic variation in Indians, and learn why some genes linked to certain diseases based on publications in international literature do not always translate into disease. Once such knowledge is established, the CSIR expects to tie up with several pathology laboratories who can offer commercial gene testing services.

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Rare Disease Fund now covers Pompe disease, a rare inherited neuromuscular disorder – The Straits Times

November 3rd, 2019 12:48 am

SINGAPORE - The Rare Disease Fund (RDF) now covers Singaporeans with Pompe disease - a rare inherited neuromuscular disorder where patients can incur medical expenses in excess of $500,000 each year.

The committee overseeing the fund announced on Sunday (Nov 3) that citizens can now apply for financial aid to help with their medical expenses for the disease which affects about one in every 40,000 live births.

With the addition, the fund now covers four conditions including primary bile acid synthesis disorder; Gaucher disease; and hyperphenylalaninaemia due to tetrahydrobiopterin (BH4) deficiency.

The fund has approved two applications for financial support so far. One of the beneficiaries is Mr Geoffrey Toi, a public servant whose three-year-old son Christopher suffers from primary bile acid synthesis disorder.

The condition interferes with the production of bile acids and if untreated, can lead to liver failure.

The fund covers a larger portion of Christopher's medication costs, which is currently about $6,250 a month, as compared to Medifund Junior, which had previously subsidised part of his medical fees.

"It was a blessing when this fund was announced, because it specifically covered his condition. Every bit of help matters," said Mr Toi, 35.

The fund was launched by the Ministry of Health (MOH) and SingHealth Fund in July this year. It combines community donations and Government-matched contributions to provide aid for Singapore citizens with specific rare diseases.

Senior Minister of State for Health and Law Edwin Tong said on Sunday that the fund recently received significant support from Temasek and the Tsao Family Fund.

"The listing of Pompe is possible because we have so many generous benefactors who have stepped forward selflessly, with a lot of compassion, to donate to the RDF," he added.

The fund has grown from $70 million last July to about $90 million, with the government matching community donations by three to one.

In addition, the Government is funding all operational expenses involved in managing the fund, ensuring that all donations received will be used solely for supporting patients.

"We hope that philanthropists, companies, community groups and individuals will continue to come forward as a society, as a community to help support patients with rare diseases... As more funds are raised, the Rare Disease Fund can be expanded further to cover even more types of treatments and more patients in future," said Mr Tong, who was attending a community carnival organised by Mount Alvernia Hospital in support of the RDF.

The carnival in Punggol raised more than $200,000 for beneficiaries of the fund. The sum includes three-to-one government matching.

Rare diseases are defined by MOH as conditions that affect fewer than one in 2,000 people, and mostly are genetic and often surface during childhood. There are no official numbers on how many people in Singapore have such rare diseases.

In some cases, effective treatments are available and the medicines can substantially increase patients' life expectancies and improve quality of life.

However, MOH noted that these medicines can be very costly, going up to hundreds of thousands of dollars a year, and patients will often need to take them for the rest of their lives.

Pompe disease is caused by a defective gene that results in a deficiency of an enzyme.

It results in the excessive build-up of a substance called glycogen, a form of sugar that is stored in a specialised compartment of muscle cells throughout the body.

Symptoms of the disease include extreme muscle weakness and breathing difficulties. The progressive nature of the disease means that it worsens over time, with the speed of progression varying from patient to patient.

Mr Kenneth Mah, whose 10-year-old daughter Chloe has Pompe disease, cheered the move to cover the disease under the RDF.

While insurance covers much of her treatment cost now - which is in excess of $40,000 a month - it may not be enough in future as she gets older and needs more of medicine.

"It gives us a greater peace of mind," said Mr Mah, 49, who ended his mobile phone business to become the main caregiver for Chloe.

Mr Mah is also the co-founder of the Rare Disorders Society Singapore.

"We hope that the fund will be able to cover all rare disorders in the future, as it gets more support from society."

More information on the RDF is available at http://www.kkh.com.sg/rarediseasefund

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This 108-year-olds secret to a long life is popping bubbly – New York Post

November 3rd, 2019 12:47 am

This effervescent centenarian still likes her bubbles.

Dorothy Flowers, who turned 108 on Oct. 22, credits her century-plus longevity to tippling Champagne, according to her caretaker.

Its the only thing we ever see her finish a glass of, Helene Ballinger, resident manager of Southlands Care Home in Harrogate, England, tells SWNS. Needless to say, weve been toasting her birthday.

Flowers can no longer speak, but that doesnt keep her from hanging out with the nursing home staff every day something that also surely boosts her morale.

Dorothy loves company, so shell sit with us at the reception desk each day, adds Ballinger. Shes such a regular that shes got her own drawer, which we keep full of chocolate buttons.

Another secret to living nearly 11 decades? Following horse races.

In the early 1940s, Flowers, an accountant, married another accountant named Leonard. Together, they worked for Britains Racehorse Betting Control Board, also known as the Tote. During World War II, horse racing was one of the few sports that wasnt suspended, and the couple moved to London to follow the events.

After the war ended, they moved to New Malden, a suburb of London, then to the resort town of Torbay on Englands southern coast.

They had no children but enjoyed nearly 40 married years together until Leonard died in 1981.

More than 650 cards came in from around the world for Flowers birthday last month from America, to Thailand and Australia. Beyond the letters, some sent gin, and not surprisingly, multiple bottles of Champagne.

For Flowers niece, Judith Barrett, the cards were a pleasant surprise.

While shes very independent, shes always been happiest when surrounded by others, and the cards have made her feel very loved, she said.

While shes not able to speak any more, the smile on her face said it all.

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