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Crucial Steps Injured Athletes Often Overlook as They Rush Back to Action – STACK News

October 28th, 2019 1:49 pm

Return-to-sport protocols are integral in ensuring athletes are healthy and capable of safely performing at the highest level.

Sports medicine staff as well as strength and conditioning coaches commonly agree on what athletes need prior to reengaging in sport, but rarely are they on the same page regarding the optimal methodologies.

Some believe that when a previously repaired joint is structurally sound and capable of moving through every range of motion, they are ready.

Others, however, believe an athlete must be at or above the level they were at prior to the injury to truly be "ready."

The methods used for rehabilitation vary depending on therapists, doctors and strength coach's individual beliefs. An integrative approach that allows one to seamlessly transition from doctor to physical therapist to strength coach with matching beliefs and congruent systems is what yields optimal results!

Admittedly, the biggest fallacy has traditionally been between physical therapists and strength coaches (like myself).

Doctors and physical therapists work extremely well together, particularly post-surgery. Patients typically have a precise protocol and adhere to it with ease, getting themselves out of the "pain stage."

From there, physical therapists do a wonderful job of restoring basic neuromuscular coordination as well as joint range of motion to their clients.

The biggest hurdle from there is when a client/athlete decides they are ready to regain full strength and get back to the activities they love.

Many physical therapists are capable of carrying out such a task, however they are often limited to the clinical space they work in where sports performance is not the primary concern.

This is where strength and conditioning professionals like myself often enter the picture and assist individuals with integration into a training routine.

Unfortunately, some people will try to bypass this stage because they believe that with no pain and a largely restored range of motion, they are essentially fully healed and ready for sport.

This could not be further from the truth! They might be ready to train, but they're likely not ready to perform.

Why?

Because they likely haven't begun proper plyometric progressions, re-trained in power and speed exercises, increased their maximal strength, or even addressed the asymmetries that originally contributed to the injury or the asymmetries that likely developed during the rehab process.

Does that sound like someone who's really ready to return to sport to you?

Strength and conditioning professionals must do a better job of communicating with physical therapists.

They must consistently communicate where the athlete is in their progress and where it is they need to go.

Programs we provide must be able to bridge the gap between athletes ready to train, and athletes ready to perform. Not all athletes will arrive at the gym healthy and ready to go. Some assessments, critical thinking, and integrative programming are required.

Perhaps one of the biggest roles a strength coach can play after that is providing training that reduces future injury risk. Preventative maintenance is key, and the number one rule of any coach is do no harm.

Properly planning and understanding that not every person will train the same based on their injury profile and history is key. My advice to anybody reading this article is to find the right coach and training program for you.

There are alternatives to nearly every training approach, and most goals can be met in a multitude of ways. Take initiative and help bridge the communication between your doctors, therapists and trainers.

Most athletes will perform a variation of a sport test with sports medicine staff prior to being cleared for sport.

Typically, that is where things get most blurry. Getting "cleared" to ski, for example, doesn't mean one is ready to do six giant slalom practice runs at their previous intensity right away.

Strength and conditioning staff can aid in this process by regularly testing all healthy athletes in a number of performance parameters (e.g., Vertical Jump, Broad Jump, 40-Yard Dash, etc.) so there's a baseline to compare if they do indeed get injured.

Taken one step further, athletes can inquire with qualified exercise physiologists to perform basic symmetry testing on them such as force plate jumps. Power, symmetry and performance numbers can be derived from such data and will allow intelligent coaches to program accordingly for athletes in their unique situation.

Last but not least, one key piece that must be discussed is a coach's own intuition.

Over years of training and coaching, one will ideally develop a high level of intuition or a keen "coach's eye."

Watching an athlete jump, run, or cut and noticing a slight movement deficiency, despite all of their numbers checking out, is a huge piece to consider. If a mechanic handed you your car back and gave you the green light to drive it but you saw a deflated tire, you wouldn't just ignore it. The same goes for an injured athlete.

Just because all of the tests have been passed and all of the numbers check out doesn't necessarily mean they are completely ready. They must be physically, mentally and psychologically ready to return.

Consider all of these points and remember that returning to sport after injury is comprehensive and requires special attention to detail. The value of a heart-to-heart conversation with an athlete about their injury and their mental and physical progress is also extremely valuable!

Many times, an athlete will simply insist that they're "ready." But if there are things that don't feel quite right and they're willing to speak with you about that, that's another piece of extremely valuable info that can further inform your approach.

Photo Credit: FG Trade/iStock

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Sports Medicine Market witness highest growth in near future described in a new market report – Health News Office

October 28th, 2019 1:49 pm

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Sports Medicine Market witness highest growth in near future described in a new market report - Health News Office

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India conducts whole genomic sequencing for Biomed applications – BSA bureau

October 28th, 2019 1:49 pm

The Council of Scientific & Industrial Research (CSIR) in India has conducted Whole Genome Sequencing of 1,008 Indians from different populations across the country.

Announcing details of the IndiGen Genome project, the Union Minister for Science & Technology, Earth Sciences and Health & Family Welfare, Government of India, Dr Harsh Vardhan said that the whole genome data will be important for building the knowhow, baseline data and indigenous capacity in the emerging area of Precision Medicine. The outcomes of the IndiGen will have applications in a number of areas including predictive and preventive medicine with faster and efficient diagnosis of rare genetic diseases, he added.

The IndiGen initiative was undertaken by CSIR in April 2019, which was implemented by the CSIR-Institute of Genomics and Integrative Biology (IGIB), Delhi and CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad. This has enabled benchmarking the scalability of genome sequencing and computational analysis at population scale in a defined timeline. The ability to decode the genetic blueprint of humans through whole genome sequencing will be a major driver for biomedical science.

Dr Harsh Vardhan said that the benefits of this initiative include epidemiology of genetic diseases to enable cost effective genetic tests, carrier screening applications for expectant couples, enabling efficient diagnosis of heritable cancers and pharmacogenetic tests to prevent adverse drug reactions.

On the occasion, Dr Harsh Vardhan unveiled the IndiGenome card and accompanying IndiGen mobile application that enables participants and clinicians to access clinically actionable information in their genomes. He emphasized that it ensures privacy and data security, which is vital for personal genomics to be implemented at scale. Dr Harsh Vardhan elaborated that this is being pilot tested in individuals across India and has evinced interest from several Indian commercial organisations.

The outcomes of the IndiGen will be utilized towards understanding the genetic diversity on a population scale, make available genetic variant frequencies for clinical applications and enable genetic epidemiology of diseases. The whole genome data and knowhow for the analysis of largescale genomic data is expected to enable evidence and aid in the development of technologies for clinical and biomedical applications in India.

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Genome sequencing data to help in predictive and preventive medicine – Down To Earth Magazine

October 28th, 2019 1:49 pm

Minister Harsh Vardhan claims project will help in cost-effective, precision medicine

Research laboratories working under the Council of Scientific and Industrial Research (CSIR) on Friday announced completion of whole genome sequencing of 1008 Indian individuals representing diverse ethnic groups in the country. The data will act as baseline information for developing various applications in predictive and preventive medicine.

The genomic data will help scientists understand genetic diversity of the Indian population and make available genetic variant frequencies for clinical applications. The data and knowhow are expected to produce evidence and help in development of technologies for clinical and biomedical applications, scientists explained.

The project called IndiGen was implemented by Delhi-based Institute of Genomics and Integrative Biology (IGIB) and Hyderabad-based Centre for Cellular and Molecular Biology (CCMB). The whole genome sequencing of individuals drawn from across the country has been completed, enabling benchmarking the scalability of genome sequencing and computational analysis at population scale, Union Minster for Science and Technology Harsh Vardhan said.

The genome data will be important for building the knowhow, baseline data and indigenous capacity in the emerging area of precision medicine, he said. The outcomes of the IndiGen will find applications in a number of areas, including faster and efficient diagnosis of rare genetic diseases, he added.

It will further lead to cost-effective genetic tests, carrier screening applications for expectant couples, enabling efficient diagnosis of heritable cancers and pharmacogenetic tests to prevent adverse drug reactions are some of the other benefits of this initiative.

Scientists have also developed IndiGenome card and mobile application for researchers and clinicians to access clinically actionable information. The minister said it would ensure privacy and data security, which is vital for personal genomics to be implemented at large scale.

CSIR has been engaged in genomic studies in India and its Indian Genome Variation has made major contributions in understanding genetic makeup of Indian population. It has also pioneered the application of genomics in clinical settings in the area of rare genetic diseases by means of DNA and genome based diagnostics and interaction with large number of clinical collaborators. (India Science Wire)

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Weight Loss Tips: 5 Underrated Health Benefits Of Eating Dinner Early – NDTV News

October 28th, 2019 1:49 pm

Weight loss: Early dinners can help in reducing insulin resistance, thus benefitting diabetics

It's a wrap for Diwali 2019 but the festivities are still not over yet as many people will celebrate Govardhan Puja today and Bhai Dooj tomorrow. Thankfully, you won't have to adhere to any more late-night parties and gatherings. Sleeping late at night and have late dinners can take a toll on your health. Thus, now may be the perfect time to inculcate the habit of having early dinners for good health, weight loss, good sleep and much more. Highlighting the importance of having early dinners is lifestyle coach Luke Coutinho on Instagram.

Also read:Best Nuts For Weight Loss And How To Consume Them

For those who are trying to incorporate intermittent fasting in their lifestyle, having early dinners is an important step. Not only can it enable you to fast conveniently, it can also help you fast for a longer duration.

"We don't need to force ourselves to fast , if we eat earlier , we build an automatic solid fast. Fasting is one of the most powerful preventative and healing tools that kicks in the intelligence of our own body and mind to heal and protect us," writes Luke Coutinho in his post.

Besides, whether you are intermittent fasting or not, eating early dinners can provide you with a number of other health benefits as well.

Eating early dinners is an important step in intermittent fastingPhoto Credit: iStock

Also read:Add These Protein-Packed Foods In Your Dinner For Quick Weight Loss

Insulin resistance occurs when your body cells do not respond properly to insulin. Insulin resistance is the main cause of type 2 diabetes and eating early dinners can have a positive effect on insulin resistance.

When you eat too late at night, it can make you experience acidity, gassiness and other signs of indigestion. However, eating early and light dinners can prevent these issues and help you sleep well at night. Your metabolism at its slowest at night. The body does not need energy-boosting foods and needs lesser calories at night. This is the reason why you must have light dinners.

Eating early dinners can improve your sleep qualityPhoto Credit: iStock

Also read:Besides Weight Gain, Here's How Eating Dinner Late Can Harm You

Inflammation is the root cause of numerous diseases and you must take appropriate steps to keep your inflammation level low. Luke Coutinho says that eating early dinners can help in reducing inflammation in your body.

Eating healthy and light dinners can be beneficial for your digestion. Eating early, sleeping on time, waking on time can help your body come in sync with its biological clock and improve digestion. Make sure there is a gap of at least 2 hours between your dinner time and bed time.

Also read:Want To Have Light Dinners But Not Feel Starved? Rujuta Diwekar Has The Perfect Solution For You!

Early and light dinners and consuming lesser calories at night, sleeping well and healthy digestion can together promote fat loss and weight loss. If you are on a weight loss regime and have failed to achieve good results, then eating early dinners may help you.

Eating early dinners can help with fat lossPhoto Credit: iStock

(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.

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New intellectual-property options help hemp breeders protect their genetics – Hemp Industry Daily

October 28th, 2019 1:48 pm

Published 7 hours ago | By Laura Drotleff

(This is an abridged version of a story that appears in the Fall issue ofHemp Industry Magazine.)

Hemp farmers across the United States require many varieties of the plant, such as those conceived to grow in distinct climates or with certain traits desired by the end customers, among others.

To meet those needs, plant breeders constantly are striving to create hemp varieties with special traits, including disease resistance and new combinations of cannabinoids.

Thosebreeders spend years developing new varieties and enduring the tedious process ofhybridizing, growing, trialing, selecting and then doing it over and over.

That part of the breeders job has gotten easier.

Thanks to the 2018 U.S. Farm Bill, breeders now have a few options and legal recourse to protect their genetics.

Hemp Industry Magazine spoke with industry stakeholders about some of the ways hemp breeders can protect their intellectual property.

The links below will inform hemp plant breeders about:

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Researchers develop new test to diagnose the genetic cause of autism – Medical Device Network

October 28th, 2019 1:48 pm

Murdoch Childrens Research Institute (MCRI) in collaboration with Lineagen, a Utah-based diagnostic genetic testing and clinical information services company, has developed a new test, called Methylation Specific Quantitative Melt Analysis, for the more accurate and timely diagnosis of Fragile X syndrome.

Fragile X syndrome is a common genetic cause of intellectual disability and autism spectrum disorder.

This syndrome impacts about one in 4,000 children. Approximately 90,000 Australians and over one million Americans are impacted in some way by this syndrome.

A large section of these are women who may not be affected with Fragile X, but carry a DNA premutation in their FMR1 gene, which then impacts their children.

One major problem with Fragile X is that this syndrome is not clinically identifiable at a young age. An average age of diagnosis in Australia is about five years, while in the US, it is over three years, according to the Centers for Disease Control and Prevention.

Due to delayed diagnosis, impacted children often do not receive the medical care they need in time.

MCRIs associate professor and lead researcher of this international study David Godler said: The impact of delayed diagnosis is significant and potentially preventable not only to the families but also for our health system. This is why we developed our new test, called Methylation Specific Quantitative Melt Analysis (MS-QMA). This is a one step process, to assist in more accurate and timely diagnosis of Fragile X in affected children referred for genetic testing.

This one-step process looks at the number of chemical modifications or marks, called methylation, added to a patients FMR1 gene in Fragile X, that are not usually found in typically developing children without the syndrome.

An increase in these marks cut down the production of a protein called FMRP, which is needed for healthy brain development and function.

For the first time, this study shows that the number of these marks can be increased, even in people without the usual genetic changes seen in Fragile X syndrome (called CGG repeats).

Previously, this was not known, partly as the present standard testing does not involve looking at these marks as part of the initial CGG screen.

The existing regular testing examines these marks through a second separate test, and only on the restricted number of patients suspected with the typical genetic change (CGG repeats) linked with Fragile X, called full mutation, and large permutation alleles. A reason for this is because the second methylation test is expensive.

For this trial, Lineagen and MCRI compared DNA test results of over 300 patients from paediatric clinics in the US and Australia.

As per standard testing, these patients either had Fragile X mutations or did not have mutations.

Although the second group of patients had no Fragile X mutations diagnosed by standard CGG repeat testing, they were diagnosed by doctors as having a kind of intellectual disability with/or without autism.

The genetic testing was performed in associate professor Godlers laboratory at MCRI using MS-QMA on male and female samples blinded by Lineagen.

With the lifting of the blind, all male and female patients with known Fragile X diagnosis received exact diagnosis using MS-QMA.

Godler said: We also identified, for the first time, smaller more common FMR1 alleles that are not usually tested for methylation (a tell-tale sign of Fragile X), that had abnormal methylation signatures in a significant number of affected patients.

These abnormal signatures were confirmed to be present by the current standard confirmatory methylation test performed by Lineagen. These signatures may compromise function of the FMR1 gene, and potentially lead to Fragile X like clinical features, and is an active area of research for my group.

Contribution to the findings also came from researchers of the University of Melbourne, Victorian Clinical Genetics Services, Genetics of Learning Disability in Newcastle, and The Royal Childrens Hospital.

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Myriad Genetics to Present Seven Studies at the 2019 National Society of Genetic Counselors Annual Meeting – Yahoo Finance

October 28th, 2019 1:48 pm

SALT LAKE CITY, Oct. 28, 2019 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (MYGN), a leader in molecular diagnostics and precision medicine, today announced that it will present results from seven studies at the 2019 National Society of Genetic Counselors (NSGC) annual meeting being held Nov. 58, 2019 in Salt Lake City.

"We are excited to present new data from seven studies at this years NSGC meeting," said Susan Manley, MS, CGC, MBA, senior vice president of Medical Services at Myriad Genetics. Our presentations highlight the companys commitment to advancing precision medicine in oncology and womens health.

A list of presentations at 2019 NSGC is below. Please visit Myriad Genetics at booth #711 to learn more about our leading portfolio of precision medicine products. Follow Myriad on Twitter via @myriadgenetics and follow meeting news by using the hashtag #NSGC19.

myRisk Hereditary Cancer

Foresight Carrier Screen

Aishwarya Arjunan

PrequelTM Prenatal Screen

About Myriad myRiskHereditary CancerThe Myriad myRisk Hereditary Cancer test uses an extensive number of sophisticated technologies and proprietary algorithms to evaluate 35 clinically significant genes associated with eight hereditary cancer sites including: breast, colon, ovarian, endometrial, pancreatic, prostate and gastric cancers and melanoma.

About ForesightCarrier ScreenThe Myriad Foresight Carrier Screen is designed to maximize detection of at-risk couples for serious, prevalent, and clinically-actionable conditions. Foresight has a rigorous disease selection that focuses on 175+ conditions that provides meaningful information to patients. Additionally, Foresight offers superior technology with unmatched detection rates for the vast majority of genes on the panel (>99% across ethnicities) which means patients can trust both positive and negative results.

About PrequelTM Prenatal ScreenThe Myriad Prequel Prenatal Screen is a noninvasive prenatal screen that uses cell-free DNA (cfDNA) to determine if a pregnancy is at an increased risk for chromosome abnormalities, such as Down syndrome. Prequel has been shown to be superior to screening methods that use maternal age, ultrasound and serum screening. Additionally, Prequel has a lower false-positive rate and false-negative rate than these other methods. The Prequel Prenatal Screen can be ordered with the Foresight Carrier Screen and offered to all women, including those with high body mass index, and ovum donor or a twin pregnancy.

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 2019 National Society of Genetic Counselors Meeting being held Nov. 58, 2019 in Salt Lake City; 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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Genetic mutation in monkeys identified as cause of Bardet-Biedl Syndrome – Drug Target Review

October 28th, 2019 1:47 pm

A study has revealed that in rhesus monkeys, a genetic mutation could be the cause of Bardet-Biedl Syndrome, providing a way to study the disease and develop therapies.

Researchers have discovered a genetic mutation in rhesus monkeys that leads to the rare Bardet-Biedl Syndrome (BBS). According to the team, their findings offer a promising way to develop gene and cell therapies to treat the condition in human patients.

The research was conducted at the Oregon Health & Science University (OHSU), US and offers the first known naturally occurring nonhuman primate model of the syndrome which causes vision loss, kidney dysfunction and extra fingers or toes.

their discovery could also be used to develop treatments for other retinitis pigmentosa diseases

Two related monkeys without cells critical for vision were discovered by the researchers. Examining their genomes, they found that both monkeys had a mutation in the BBS7 gene, one of at least 14 genes associated with BBS.

The team then searched a genome database of the monkeys at the Oregon National Primate Research Center at OHSU. They identified a third monkey that had the same mutation and has severe BBS symptoms.

The group are now breeding more animals with the naturally occurring BBS7 mutation, as having more animals with the mutation can enable them to develop cell and gene therapies.

There is no cure for BBS today but having a naturally occurring animal model for the condition could help us find one in the future, said the papers corresponding author, Dr Martha Neuringer, a professor of neuroscience at the Oregon National Primate Research Center at OHSU.

The researchers say that their discovery could also be used to develop treatments for other retinitis pigmentosa diseases.

The results were published in Experimental Eye Research.

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Coffee therapy for rare genetic disease related to violent and involuntary muscle movements – BusinessLine

October 28th, 2019 1:47 pm

The morning Cuppa Coffee, with its caffeine is proving to be a simple therapy in the taming of a rare, involuntary movement disorder, that had defied treatment.

A 33-year-old patient from Bengaluru in October and an 11-year-old child from Paris in June, benefited from this fluke or chance treatment, according to scientists.

The efficacy of caffeine as a treatment of dyskinesia,caused by a mutation in the ADCY5 gene is causing waves in medical circles.

Dyskinesia refers to a family of disorders characterised by violent and involuntary muscle movements.

Caffeine is known to be against adenosine. Thus it prevents formation of excess cyclic AMP, which is responsible for the involuntary movements, by inhibiting its synthesis through blocking of adenosine receptors in the brain.

Scientists at the Centre for DNA Fingerprinting (CDFD), Hyderabad presented the case of 33-year-old Ramesh (name changed) who complained of involuntary movements of the limbs and face since the age of five.

This would occur 10 to 15 times per day and last for a few minutes. They were also affecting his daily routine. Such features are termed as 'paroxysmal dyskinesia'. Alterations in more than 12 genes are known to result in this phenotype.

Since many genes needed to be tested, an advance genetic testing method, called exome sequencing analysis was done by a team led by Aswin Dalal, Head, Diagnostics Division CDFD to identify genetic basis in this patient. The sequencing revealed a mosiaic mutation in ADCYS (adenylate cyclise) gene.

Ramesh had consulted neurologist Kuldeep Shetty and medical geneticist, SJ Patil at the Mazumdar Shaw Medical Centre, Narayana Hrudayalaya Hospitals, Bengaluru.

His condition is not very responsive to the currently available medication (like benzodiazepines, betablockers, tetrabenazine, anticholinergics etc).

The CDFD scientists, inspired by the case study in France decided to try out the coffee regimen. They found to their surprise a 90 per cent reduction in his involuntary movements within few days.

Although novel therapies are being developed for some genetic diseases, they are very expensive and and are not accessible to the public. "An accurate diagnosis of genetic disease is very important for proper management and prognosis," they said.

In June 2019, a group of scientists from France reported an unusual case. They found that in a family, the father and daughter were affected with a rare, involuntary movements. They were also having a mutation in the ADCYS gene. However, the consumption of coffee lead to a dramatic reduction of unwanted movements.

To cross check the results, they repeated the therapy on an 11-year-old boy with the similar symptoms. The boy was given three doses per day of coffee (in the form of espresso coffee).

To their utter surprise, they found that his had symptoms dropped from 30 bouts per day to one or two brief movements within few days of coffee treatment. Interestingly, the movements re-surfaced when the patient was given decaf coffee and disappeared again when caffeine containing coffee was given.

ADCY5-related dyskinesia is a roughly one-in-a-million disease, and there is no known cure. The gene in its normal state provides instructions for making an enzyme that helps to regulate muscle contraction. The mutation disrupts that process, and caffeine helps to restore.

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Quantum computing could turbocharge healthcare analytics, AI – Healthcare IT News

October 28th, 2019 1:46 pm

Google's recent claim that it has achieved quantum computing supremacy apart from being contested by rival tech giants such as IBM is still quite a ways off in terms of real-world applications.

The healthcare industry, for example, will still need to build a new set of applications to take advantage of quantum, and it still won't account for the cost of the hardware and the operating costs to cool the systems and keep them operational.

If healthcare costs were not already high enough, these capabilities don't help in keeping cost burdens low, and because quantum introduces all kinds of potential security risks, data privacy for healthcare patients could be compromised even further.

However, possible applications for artificial intelligence and machine learning to help with data analysis could prove critical further down the road.

Quantum computing could provide unprecedented power and speed of processing as well as novel and fundamentally different algorithmic search and data homogenization strategies.

"The exponential computing speedup offered by quantum computers will enable machine learning algorithms to rapidly identify patterns in healthcare data collected from millions of participating patients," Mario Milicevic, an IEEE member and staff communication systems engineer at MaxLinear, told Healthcare IT News.

He explained medical imaging and pathology would likely be the first to benefit, as quantum computers could be used to train machine learning algorithms with more classifiers to identify diseases in a fraction of the time that it takes today.

Milicevic noted quantum computers could also accelerate DNA sequencing, which would enable the more effective cancer treatment through personalized medicine.

A central challenge that remains is collecting and curating healthcare data uniformly across a multitude of sources in such a way that it can be processed by quantum algorithms.

Nick Hatt, senior developer at digital health company Redox, cautioned that it's going to be important to not buy into the hype too much at such an early stage.

"No one should be putting a down payment on a quantum computer today," he said. "The methods used today in AI/ML are well understood and run reasonably fast on conventional computers."

Hatt explained that what healthcare CIOs need to worry about is cryptography.

"Essentially all of the ways we secure our health data -- from APIs that transmit it, to the actual storage on disk," he said. "The data is at risk of being completely and utterly broken."

From a clinical healthcare perspective alone, the quantum computing technology could lead to "dramatic" accelerations in speed and performance.

"MRIs were basically invented because of our acquired understanding of quantum physics, and getting a true quantum computer will allow us to truly understand the nature of all matter, which means everything from better medicine with less side effects to better diagnostics," Roger Grimes, data-driven defense evangelist at KnowBe4, told HealthcareITNews.

With increased computing available, clinicians could easily review CT scans over time and quickly identify changes and anomalies. Similarly, precision medicine can be accelerated.

Targeted chemotherapy protocols can be identified more quickly, and with more customization, with quantum computing's enhanced data processing abilities.

"All of the above apply to oncology specifically as well," noted Dr. Doug Walled, an IEEE member and an attending physician in diagnostic radiology and nuclear medicine.

He explained roving machine learning algorithms crawling across disparate systems could adapt unlike data, and much more rapidly change the treatment landscape for various types of cancer.

The kind of massive processing power and intelligence quantum computing will bring could also change the landscape for AI-based healthcare applications, because clarity will be available much more rapidly.

One tenant of quantum computing is that two "objects" may seem unrelated and, with quantum applied, are realized to be somehow related.

"Extrapolate that idea to healthcare and AI and you can imagine that when AI brings together information and extrapolates parallels in the data that then, science will connect previously unconnectable dots," Mark LaRow, CEO of patient matching services provider Verato, told Healthcare IT News. "Apply this to clinical trials in fields like oncology and pretty soon we cure undiagnosable cancers."

LaRow cautioned one challenge to the adoption and full use of the technology's potential is the limited, incomplete, or inconsistent data sets required to train and be available for mass computational consumption and AI learning.

For example, a chronically ill patient may see more than seven clinicians, and these clinicians document differently, they copy notes from other providers, use shorthand, and think differently.

"This creating inconsistency and incompleteness across the medical record," he said. "Sophisticated solutions like AI and quantum computing will benefit from complete medical records paired with supplementary non-medical information."

Although it may be years even a decade or more before quantum computing becomes a standard part of the healthcare business, LaRow noted these "wickedly futuristic technologies" have, in the last five years, evolved to seem tangible.

"Ultimately, I believe, that these technologies will become so reliable that it will be deemed unethical for a clinician NOT to consult with a powerful AI informed computing system to double check a diagnosis and to recommend a treatment regimen," he said.

Healthcare IT News is a HIMSS Media publication.

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Channeling the Power of AI into Personalizing… – Labiotech.eu

October 28th, 2019 1:46 pm

Artificial intelligence has been much discussed of late, but will it really help us solve important problems like how to bring personalized medicine to as many patients as possible? Kate Hilyard, COO of Healx in Cambridge in the UK, believes it can.

Getting a drug to clinical trials currently requires a large investment of both time and money with no guarantee that it will be successful in the long term, or reach the market. Hilyard has a lot of experience of drug development, ranging from big pharma to biotech, and understands this process well.

Recent developments in AI and data mining has led to the founding of a number of companies trying to apply this technology to improving health. Healx is one such company and is seeking to make drug development quicker, easier, and more effective, all factors that attracted Hilyard to join as COO last year.

Ive done drug discovery for 25 years the traditional way. I knew about the massive failure rate, Hilyard told me. The AI approach sounded intriguing and the more I learned about it, the more clever I think it is because it uses information thats already out there.

Hilyard began her career in drug development at Roche, before moving on to work at the established biotech Cambridge Antibody Technology.

I wanted to make a difference to patients lives this was something that really interested me about human biology. Thats why I did biochemistry as a degree. Working in academia was great and I learned a lot, but I just felt it was too distant from really making an impact.

Cambridge Antibody Technology was one of the first companies to produce antibody or biologic drugs. It developed the blockbuster arthritis drug Humira, which helped lead to its acquisition by AstraZeneca for more than 800M in 2006. One of its co-founders, Greg Winter, shared the Nobel prize for chemistry in 2018 for work that led to Humiras development.

It was really exciting to work there because it was a biologics company. We were all working in discovering antibody therapeutics where biologics as drugs werent so accepted in those days It was as if people didnt really believe antibodies as drugs were going to work. Now, biologics are at the heart of many company pipelines.

As well as working for both big pharma and biotech, Hilyard also spent a number of years working for the large contract research organization Charles River.

It was a fantastic learning experience in that I learned how to be a businesswoman. Working at a CRO is all about running a profitable business, so I learned about commercial, legal, financial aspects, cost control, managing change In a pharma company, you work towards your budget, but thats it; youre not seeing the bigger picture.

This experience taught Hilyard that, while they can be effective, traditional drug development techniques have room for improvement. She believes Healxs novel approach can improve the drug development process.

Youre using knowledge thats out there, somewhat like a sustainable drug discovery method. Youre using machine learning to be able to query that information to find new treatments. You make these novel connections between the disease and the drug. Its a completely different approach and I liked the fact that it was different.

Healx is using an approach that collects a vast amount of both public and proprietary data from medical literature and databases such as DrugBank. It then extracts useful information using algorithms that have been developed by the technology team. The data are put to good use by Healxs pharmacology and drug development team, which uses it to search for viable drug candidates.

You need this drug discovery expertise input as you cant let the algorithms do it by themselves. Its just too difficult a problem. The algorithms make predictions and then we have our experts review those predictions and decide which are the best ideas and best hypotheses to take forward to test in the disease models.

There are many advantages to this approach, according to Hilyard. Because the computer is doing all the hard work, it means we can do it a lot more quickly and cheaply than the traditional approach It means we can cover so many more diseases. Weve already got ten active programs and our goal is to have started 100 programs by 2025.

Healx has already had some successes. Its most advanced program is a treatment for fragile X syndrome using a repurposed compound. The drug candidate has reached the point where it can be tested in clinical trials. This process took less than two years instead of the normal five-to-seven years the traditional approach would have taken.

We are planning to start our clinical trial early in 2020. That would be about two-to-three years from project initiation to phase II, which is amazing.

Personalized medicine has developed over the last 10-15 years from being a hope for the future to a practical reality. For example, many modern cancer treatments are designed to treat a specific group of patients or tumors.

Cancers are not just being defined by the tissue or organ they originate in anymore; theyre being defined by the molecular descriptors. We think everybody is going to be working on diseases with small-patient populations eventually because well just understand the disease biology much better.

An approach such as the one adopted by Healx can be instrumental in providing tailored therapies to more people.

Were trying to enhance the success rate of clinical trials. You do that by working out which patient population is the right one to test it in. Obviously, if youre looking for a small effect, you dont want to have a lot of non-responders in the group that mean the small effects are hidden statistically.

While AI can be very useful for developing more effective and personalized therapies, Hilyard emphasizes that it is important to remember that it is only a tool and that tools are only as good as their users.

All the AI does is allow you to process large amounts of data, which you wouldnt normally be able to do. You can also try to find patterns in it and learn new things, but there are patterns that need to be explained. You then need to have experts to look at them.

I think if you have specific questions, thats when it really works and you can process massive amounts of data. Thats the key thing. You can use it to do something that a human cant do.

Coming from a background in biochemistry and traditional drug development, working at Healx has been a different experience for Hilyard. But one she has found very inspiring.

My colleagues do things in a different way and we have different languages and we think differently. Its been great to create this, as I describe it, chimera where youre creating cross-functional teams that combine computer scientists with pharmacologists and were creating great science out of that. I really like the fact that its different.

It does take a bit more energy for everybody, but everybody whos in Healx knows that. They all know that were making this combination to completely change the way drug discovery is done. Everybody is fully into building something new.

Images via E. Resko and Shutterstock

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How Neural Nets Will Personalize Medicine: Meet The Startup Thats Changing How We Find New Drugs – Forbes

October 28th, 2019 1:46 pm

Finding new medicines is like finding a needle in a haystack. By linking a powerful computational ... [+] approach to advances in chemical manufacturing, this company is making piles of needles.

Finding new drugs is hard. Sometimes we dont even know how a disease works, and drug tests in animals dont always go the same as in humans. Drugs can even behave very differently from person to person. And because companies dont tend to share data with one another about failures, we cant learn from each other and the larger data pool. The whole process is extremely expensive, and the cost is ultimately borne by us, the consumers.

But what if drug discovery could go from finding a needle in a haystack to making small piles of needles?

Thats what Abe Heifets wants to do. Abe is the CEO and co-founder of Atomwise, a 50-person biotech startup based in San Francisco. And he thinks hell find the next blockbuster drug using a technology you carry in your own pocket: neural networks.

Whats a neural network anyway?

If youve ever used Siri or Alexa, or uploaded a photo to Facebook, then youve used neural networks, says Abe. A neural network is a set of computer instructions (algorithms) that resemble human brain function where it comes to recognizing patterns and clusters in data. The data can be images, sound, text, or other information like molecules at the atomic level.

Consider three kinds of data. Speech is one-dimensional data: a single audio signal varying over time. Images are two-dimensional data because the pixel color depends on both the x coordinate and the y coordinate. Atoms are three-dimensional because they have x, y, and z coordinates: height, width, and depth.

Speech-to-text software uses 1D neural networks. The vision systems of self-driving cars use 2D neural networks. Atomwises insight was to develop a 3D neural network that could see and understand molecules in space in the same way a self-driving car sees the world. Instead of red, green, and blue color channels at every grid point, we have carbon, oxygen, sulfur, and nitrogen channels, he says.

How does it work?

Let's say you're a professor at UC San Francisco, says Abe, and you think that if you can just block protein XYZ, you can cure Alzheimer's That's a great paper you can publish in Nature, but you can't help a patient with that. You actually need the drug.

Thats where Atomwise comes in. You say, Give me a molecule for XYZ. And it can be on Alzheimer's, cancer, malaria, whatever you want Atomwises AI system searches for the best small molecules among millions and millions.

By default, Atomise starts with a chemical library of 10 million small molecules. From this pool, Atomwises algorithms sift through and identify the most promising molecules 7% of 1% of 1%, just a tiny sliver. They then order them inexpensively from a third-party manufacturer and ship them to their customer on a 96-well plate. From there, Atomwises customers can test the molecules and see how they work in their systems.

How big is big? Ultra-economies of scale

For context, big pharma companies typically have 3 to 5 million small molecules in their entire collections. So Atomwise can double that.

A decade or maybe 15 years ago, you and I could buy a million molecules off-the-shelf. Last year, we could buy 300 million. This year its 11 billion molecules that you and I can order for 100 bucks a pop and get shipped to us in six weeks, Abe told me. He thinks next year itll be 100 billion.

Atomises business model is akin to Dell in the 90s: You custom-design your computer from any possible combination of peripherals and memory, enter your credit card info, and press submit. Dell goes out and buys the peripherals and builds only the computers it

Chemistry has undergone the same transformation in the last decade, says Abe, where chemical manufacturers are storing all the building blocks and making chemicals on-demand. What they're selling you is the Cartesian product of how to put those together.

With an important difference in Atomwises case: They are also selling a highly intelligent selection of chemical products, based on customers needs.

This is virtual chemistry, on-demand chemistry, right? Abe says. We've shifted from a world of scarcity in chemistry, to a world of abundance.

Abe likens the space to other neural network we use all the time: Netflix has way more movies than you could ever watch, and YouTube has way more cat videos than you can ever see, right? But how do we get a new cat video, one that you feel like watching right now? These are questions of filtering, matching, searching. These are AI questions.

The origins of a good idea

Abe studied computer science at Cornell, where he worked on the AI system for soccer-playing robots (his team won the RoboCup World Champion in 2001). From there, he worked at an IBM research center in Boston. I worked there on what today we would probably call Big Data, recalls Abe, but at the time, we didn't have that phrase, so we called it high performance data processing.

The work was rewarding, but Abe wanted to do more. And that time, he got interested in medicine (Everyone needs a hobby, he says sheepishly). He started taking chemistry classes at Harvard, where the mixing of chemicals felt very grainy to him compared to computer science.

Abe decided to go back for his PhD and landed in a computational biology group at the University of Toronto. Abes lab shared a coffee pot with the machine learning group of Geoffrey Hinton inventor of deep neural networks. Thats also where he met his Atomwise co-founder and CTO, Izhar Izzy Wallach. Izzy had been writing structural biology algorithms for a small pharma company. Combined with Abes work on big data and the influence of deep neural networks being created in the lab next door, and Atomwise was a natural fusion of it all.

Anything but academic

Applying this thinking is not a mere academic exercise, and investors know it. Atomwise was first selected to join Y Combinators Winter 2015 class. By the end of Y Combinator, several well-known venture capitalists were ready to invest in the promise of applying neural nets to drug discovery, including DCVC (where I am an operating partner), Khosla Ventures, Threshold, and Tim Draper. By March 2018, Atomwise closed its $45 million Series A round.

And the technology is maturing nicely, Atomwise just reported the results of a collaboration with Stanford University and the Mayo Clinic that used Atomwises technology as a kind of AI virtual drug screen to identify a potential treatment for Parkinsons disease. Its also a proof-of-concept for making personalized medicine for this disease quickly and cheaply.

Weve been running the world's largest application of machine learning to drug discovery in history, says Abe. He recently presented those project results to the American Chemical Society. This is a project that we've been running where we have over 250 projects with hundreds of universities in 36 countries, he says. We work on every major disease, we work on every protein class.

Today, Atomwise is working with a number of big and small pharma companies, particularly around cancer treatments. One partnership, with Hansoh Pharma, marks the largest China-US collaboration for AI drug discovery and could amount to $1.5 billion if all milestones are achieved.

What 21st-century pharma companies will look like

As Old Pharma outsources AI drug discovery and more, Abe thinks it will change the face of pharma companies. It probably doesn't look like four brick walls with everything happening inside. It probably looks more like a series of alliances that come together.

If youre a small biotech with some deep insight into biology, are you going to spin up your own mouse testing, sales force, and chemical manufacturing? No, says Abe. You want to partner with Big Pharma, who has those kinds of relationships already in place. And so it's a question of teamwork.

Companies like Atomwise are a great example of how the convergence of tech and bio is creating valuable and important new consumer possibilities that were previously off limits, while also disrupting existing value chains in huge industries like pharma.

If your company could biomanufacture any chemical imaginable, what would it be?

Acknowledgement: Thank you to Kevin Costafor additional research and reporting in this post.

Please note: I am the founder ofSynBioBeta, and some of the companies that I write about, including DCVC, are sponsors of theSynBioBeta conference(click herefor a full list of sponsors).

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Something in the Way We Move – The New York Times

October 28th, 2019 1:46 pm

Each of us appears to have a unique way of moving, a physical signature that is ours alone, like our face or fingerprints, according to a remarkable new study of people and their muscles. The study, which used machine learning to find one-of-a-kind patterns in peoples muscular contractions, could have implications for our understanding of health, physical performance, personalized medicine and whether and why people can respond so differently to the same exercise.

Intuitively, most of us probably know there is something in the way we move, and that that something defines us. In studies and daily life, most people can pick out their friends and loved ones, based solely on how they walk. At least one surveillance company also claims to be able to identify and track people using their gaits.

But those identifications, whether fond or creepy, rely on external cues about how we look in motion and depend on anatomical features, such as height, limb length or how we swing our arms, which may not be stable. Wear heels, develop sore feet, limp, and you could move differently.

Some scientists have speculated that other subtler, interior movement patterns, such as the ways in which our muscles fire in choreography with one another when we will our body to move, might be particular to each of us and relatively constant. But little research had delved into what our muscles are up to when we move.

So, for the new study, which was published this month in the Journal of Applied Physiology, French and Australian researchers decided to turn to algorithms to ferret out whether unique, personal muscle patterns exist.

The scientists began by recruiting 80 healthy men and women of varying physical sizes and fitness and inviting them to a human performance lab.

There, the volunteers sat on stationary bicycles while researchers adjusted the pedals, handlebars and seats so that everyones riding style would be the same. The researchers also attached electrodes to eight of the muscles in the volunteers legs. The electrodes were designed to read and record electrical activity in those muscles while they contracted. Then the volunteers cycled for 90 seconds multiple times at a range of pedaling speeds.

Next, they moved over to treadmills and, still wearing the electrodes, walked barefoot during multiple 90-second strolls.

Several days later, most of the volunteers returned to the lab and repeated the cycling, walking and electrodes routines.

The researchers then fed all of the muscular-activation readouts into a machine-learning software program, which is a type of artificial intelligence. For the first few examples, the program was told which readouts belonged to which person and directed the program to, in effect, learn that persons muscular-activation style, if it existed.

Finally, the programs algorithm was directed to differentiate the movement patterns, without names attached, and assign them to the correct volunteer.

It turned out to be quite adept, accurately recognizing anonymous movement patterns more than 99 percent of the time when using readouts from all eight muscles. Even when it considered activity from only two muscles, it knew the muscles owners more than 80 percent of the time.

Perhaps most important, the algorithm remained correct about 90 percent of the time when analyzing the readouts from peoples second lab visits.

Taken as a whole, these data suggest that people have distinct, detectable and durable ways of using their muscles, says Franois Hug, a professor of movement science at the University of Nantes who led the new study. The individual patterns remained recognizable even from one day to the next.

The findings are important, Dr. Hug says, because understanding how movement is controlled remains one of the main challenges for many scientific fields. Our simplest-seeming moves are bogglingly complex. A 5-year-old child can manipulate objects with superior dexterity to any robot, he says.

So, quantifying the unique ways in which people walk, pedal or hold a glass could enable scientists to improve and refine robotics, prosthetics, physical therapy and personalized exercise programs.

At a more intimate level, understanding movement signatures conceivably could improve sports training, Dr. Hug says, if it turns out that world-class athletes activate their muscles in ways that can be emulated by those of us who are less swift and graceful.

Movement signatures also might serve as coal-mine canaries for disease or injury risk, he says. He and his colleagues already are studying the relationships between certain muscle-activation patterns and Achilles' tendon problems.

But this research is in its infancy. Dr. Hug cautions. Scientists do not yet know how permanent movement signatures are; if and how they alter with age, weight change or lifestyle; or if it ever will be feasible and affordable for most of us to learn our particular movement signature.

But Dr. Hug hopes this study will remind scientists, doctors and us of every persons immutable exceptionalism.

Differences in the way people move and respond to an intervention are often ignored, he says, but they matter for addressing fundamental questions about health, aging and disease.

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Medicares Denial Of Coverage To Kidney Patients Could Be Just The Beginning – Forbes

October 28th, 2019 1:46 pm

In September 2018, the Centers for Medicare & Medicaid Services (CMS) sent an email announcing that it would no longer cover Auryxia. Auryxia is an FDA approved medicine that treats iron deficiency anemia (anemia) for patients with chronic kidney disease (CKD) but who are not on dialysis.

People with CKD have damaged kidneys that no longer filter their blood properly. Currently, 30 million people in the U.S. are living with CKD, and for these patients, anemia is common. If left untreated, anemia increases the risks for cardiovascular disease, end-stage renal disease, and premature death. These patients also have increased hospitalization rates and lower overall quality of life. From a cost perspective, untreated anemia increases the annualized cost of CKD by nearly $29,000 per patient.

Even based on a cold cost-benefit analysis, simple arithmetic argues against dropping coverage of Auryxia. The manufacturers label lists the starting dose for iron deficiency anemia in CKD cases at 1 tablet 3 times per day, while the average dosage in clinical trials was 5 tablets per day. Since a supply of two hundred 210 mg tablets costs around $1,200 according to Drugs.com, the annual cost of Auryxia based on the price offered on drugs.com ranges between $6,570 - $10,950. This does not account for Medicare Part D discounts, which are usually significant, but even without the savings, Medicare would reduce spending by treating anemia with Auryxia compared to the costs associated with untreated anemia.

Alternative anemia treatments are available for Auryxia, so the actual trade-off is not between having a medicine to treat anemia and not having one. However, Auryxia is the only FDA approved oral therapy. All of the other treatments that are approved by the FDA are medicines delivered intravenously and must be administered by a physician in a clinical setting.

Intravenous products are costlier to administer because there are additional infusion administration fees that must be covered. Patients must also take time out of their day to go to the clinic or hospital and sit through the administration of an intravenous (IV) medicine. For most patients, taking a medicine orally at home (or work) is a much more preferred option than being stuck with a needle on a regular basis. Further, IV Infusion also places patients at greater risk of infection and venous injury.

Even though Medicare Part D is denying coverage to Auryxia, Medicare Part B covers the cost of these more expensive infusion drugs that are used to treat anemia. Denying coverage to Auryxia under Medicare Part D effectively pushes people toward using the more expensive infusion drugs that will be paid for by Medicare Part B. Therefore, not only is Medicare denying patients access to a medicine that might be more appropriate for them, it costs the system more money to do so.

Perhaps even more troubling for the quality of the health care system, this decision represents another instance where bureaucrats limit the ability of doctors (in this case nephrologists, or doctors who specialize in kidney care) to prescribe the treatment they deem to be the most appropriate for their patients. Ultimately, health care quality will decline should authority continue to be transferred away from doctors and patients to the health care bureaucracy.

CMS bureaucratic decision is simply illogical from a reimbursement policy perspective, absurd from a patient perspective, and inconsistent with the evaluation of the FDA as well as the medical evidence as reported in the Journal of the American Society of Nephrology. Given that this decision is not justifiable based on the medical evidence, why would CMS decide to cut off coverage?

CMS has not been forthcoming, but as reported in Stat News, it appears that CMS considers Auryxia a mineral, like iodine or vitamin C, which Medicare typically doesnt cover. Therefore by denying coverage to Auryxia, CMS appears to believe that it is simply creating consistency across these products. This conclusion makes no sense, however. Not only has the FDA approved Auryxia as a drug, CMS currently covers it as a drug for the treatment for other complications from kidney disease.

The Auryxia case demonstrates that government bureaucracies run by their own logic, and often this logic conflicts with the interests of patients. The costs of this policy will be compounded should policies like Medicare for All or Medicare for All Who Want It be adopted. And, this problem is sure to worsen in the future as innovations in gene therapies and personalized medicine mean that doctors will need more authority to prescribe the best treatment for an individual patient, not less.

Going forward, both near-term and long-term changes are necessary. In the near-term, it is unconscionable that Medicare patients are being denied a more efficacious treatment that will actually reduce overall health care expenditures. In fact, due to its efficacy, virtually every Medicaid and commercial insurer in America currently covers Auryxia for iron deficiency anemia in CKD patients. Consequently, CMS should restore Medicare Part D coverage for Auryxia.

In the long-term, policymakers need to learn the lessons from this coverage snafu. Health care reforms that expand the governments control over treatments will lead to more and more cases like Auryxia. The best way to control health care costs and improve the quality of care is to empower patients and doctors to decide which treatments are best.

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Milu Labs And Thermo Fisher Scientific Announce Collaboration MOU To Advance The Expansion Of ‘Women’s Health Products’ In The China Market -…

October 28th, 2019 1:46 pm

New York, NY /PRNewswire/ - Thermo Fisher Scientific, the world leader in serving science, and Milu Labs., whose mission is to become the leading diagnostic and analysis company focused on cutting edge technologies that address the unmet clinical needs in the Asian market, announced their intent to collaborate on projects to advance the state of clinical research diagnostic technologies with a focus on women's health.

Both parties entered a Memorandum of Understanding (MOU) with the common interest of identifying challenges faced by medical professionals, where there are limited tools for noninvasive risk stratification to predict adverse pregnancy outcomes. The combined teams intend to explore development opportunities that will maximize Thermo Fisher's leading liquid chromatography-mass spectrometry (LC-MS) instrumentation, and deploy multiple best in class technologies to enable a new era of personalized medicine.

"Thermo Fisher Scientific's mission is to enable our customers to make the world healthier, cleaner and safer, and our intent to partner with Milu encompasses every aspect of this mission through the evaluation of technologies and clinical research diagnostic assays that are solving real world problems in the China market," said Bradley Hart, senior director, clinical research, chromatography and mass spectrometry, Thermo Fisher Scientific. Under the MOU agreement, a general framework for cooperation has been established to support the development of a clinical mass spectrometry-based proteomics assay, that brings together NX Prenatal's NeXosome platform and Thermo Fisher's analytical technology for the Chinese reproductive health segment. This enables the evaluation of novel pregnancy biomarkers during the gestation period that can correlate with adverse outcomes, such as preterm birth and preeclampsia.

"At Milu, we are committed to developing novel assays and technologies focused in the Women's Health market. Thermo Fisher Scientific shares our vision of accelerating developmental efforts of novel assay platforms with their leading analytical technology to optimize clinical mass spectrometry-based workflows. This will provide the necessary precision for clinical research diagnostic solutions to support personalized medicine strategies. In the near future, we will be expanding to support our efforts into the Oncology vertical," commented Dr. Daniel Chai, Chairman of Milu Labs.

About: Milu LabsMilu Labs is a global diagnostics company that builds, researches, and markets cutting edge technologies to screen and detect major heath conditions. The company focuses on companies in early development as well as those that are already commercialized. Milu Labs is collaborating with global academic institutions and well recognized Healthcare/AI companies to develop the appropriate strategies for regulatory, reimbursement and commercialization in China. http://www.milulabs.com

About Thermo Fisher ScientificThermo Fisher Scientific Inc. is the world leader in serving science, with revenues of more than $24 billion and approximately 70,000 employees globally. Our mission is to enable our customers to make the world healthier, cleaner and safer. We help our customers accelerate life sciences research, solve complex analytical challenges, improve patient diagnostics, deliver medicines to market and increase laboratory productivity. Through our premier brands Thermo Scientific, Applied Biosystems, Invitrogen, Fisher Scientific and Unity Lab Services we offer an unmatched combination of innovative technologies, purchasing convenience and comprehensive services. For more information, please visit http://www.thermofisher.com.

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4 Innovative Solutions Fostering Advanced Cancer Treatment – Medical Tech Outlook

October 28th, 2019 1:45 pm

Medical technologies like smart pills, vaccines personalization, and more are opening newer ways for cancer treatment.

FREMONT, CA: Treatment options for cancer have massively evolved and improved in recent years. Today, care providers continue to explore new possibilities for cancer treatment with the help of advanced technologies. Treatments like radiation therapy, personalization of cancer vaccines, and nano-medicines, experience rapid adoptions by care providers for cancer treatment.

1. Radiation Therapy

Health care providers use radiation therapy, highly effective cancer treatment. This treatment aims accurately and directly at the cancer cells, resulting in the killing or reduction of the tumor-affected cells and tissues in the patients. The high-energy rays prove to be highly effective in reducing the risk of cancer and recurrence of common cancer, such as breast cancer, bowel cancer, and prostate cancer, and helps the surgeons remove or kill the cancer-affected tissues. The latest medical technologies for cancer integrated with radiation therapy are making the treatments more quick, accurate, and effective.

2. Ingestible Sensors and Smart Pills

Ingestible technology in the healthcare field is used to help the patients manage their medications. The new technology allows the care providers to ensure their cancer patients are taking medications as prescribed. Ingestible sensors offer close monitoring of patients' health conditions, which include sensing the growth of tumors and instantly guiding the smart pills towards precise tumor locations and heart rate, activity level, and sleep cycle of the patients. The digital pills enable real-time transmission of health information to a small patch on the patients' skin, which can be connected to a mobile app that both the patients and their doctors can access.

3. Personalized Cancer Vaccines

Developments in personalized cancer vaccines enable the next-generation cancer treatment method. The advanced vaccine is used with the computational pipeline, which can precisely identify tumor-unique mutations and successfully induce immune responses in cancer patients, helping them fight their diseases. The technique follows cell-based immune therapies that provide the patients with tumor-attacking T cells, and the delivered neo-antigens in the patients body create vaccines to stimulate the T cells. The advanced vaccines are given in the form of messenger RNA that produces a particular protein according to the patients physiological requirements.

4. Nano-Medicines

The innovative and promising technology, nano-medicine provides many advantages over conventional cancer therapies and new opportunities for early detection, improved treatment, and diagnosis of cancer. The benefits of nano-medicines for cancer treatment attract care providers, as the unique physical, chemical, mechanical, and optical properties of these medicines are easier to access with more efficiency. The innovative medicine uses nano-carriers to deliver therapeutic molecules, such as drugs, proteins, or nucleic acids. The nano-structures for the cancer treatment can also be exploited to favor the delivery of immune agents and represent therapeutic tool.

Technology leads the cancer treatment sector towards a bright future, where the increasing advantages of innovative cancer treatment solutions can be accessed easily across the world. Nanotechnology, targeted radiation, personalized vaccines are revolutionizing the medical technology industry, promising the possibilities of more solutions that can successfully fight cancer and prevent its reoccurrence. The ever-evolving field of cancer treatments consistently puts effort into exploring innovative diagnostics and treatments, leading to more creative solutions like molecular cancer diagnostics, identify genetic and lifestyle causes of diseases, and perform precision surgery.

Link:
4 Innovative Solutions Fostering Advanced Cancer Treatment - Medical Tech Outlook

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Comments Sought in Regular Review of Vice President for Finance and Treasurer Tim Walsh – Duke Today

October 28th, 2019 1:44 pm

A university committee is seeking comments as part of a regular performance review of Vice President for Finance Tim Walsh. Reviews of senior administrators are typically conducted in the fourth year of a five-year term, and the results complied in a confidential report.

This will be the second such review for Walsh, who has served in his current post since 2011.

Executive Vice President Tallman Trask asked Peter Feaver, professor of Political Science, to chair the committee. Other members are: Kerry Abrams (School of Law); Billy Newton (School of Medicine); Scott Greenwood (Duke University Alumni Association); Joanna Rojas (Office of Audit, Risk and Compliance); Beth Sullivan (Professor of Molecular Genetics and Microbiology); and Laura Meyer Wellman (Board of Trustees).

Walsh joined Duke in 2004 as assistant vice president and controller. In 2011, he was promoted to vice president for finance, where he oversees an array of accounting, reporting and financial functions, including the treasury, budgeting, procurement, real estate, stores and licensing, administrative systems, research costing and compliance, auxiliaries finance and controller's functions.

At Duke, Walsh has, among other things, co-chaired efforts to streamline core financial and administrative processes that support the university's international activities; chaired the Research Administration Continuous Improvement (RACI) initiative, which promotes the efficient and effective administration of Duke's $1.1 billion research enterprise; and overseen the implementation of monthly reporting processes that provide greater transparency of the university's comprehensive financial performance to executive administrators and trustees.

An important part of the review process is the gathering of opinions from the universitys many constituencies. Comments on performance and suggestions for the future are important to the committees work. Communication should include the nature of interactions with Walsh and his team so that the committee can best understand the context of the comments.

The committee will discuss responses and a summary will be included in the written report to the executive vice president. The committee will hold all communication in strict confidence.

Comments should be submitted by Nov. 8, 2019. Please send any communications to:

Peter Feaver, Chair

Walsh Review Committee

Box 90204

Durham, North Carolina 27708

admin-review@duke.edu

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Comments Sought in Regular Review of Vice President for Finance and Treasurer Tim Walsh - Duke Today

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Myriad Genetics to Present Seven Studies at the 2019 National Society of Genetic Counselors Annual Meeting – BioSpace

October 28th, 2019 1:44 pm

SALT LAKE CITY, Oct. 28, 2019 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, today announced that it will present results from seven studies at the 2019 National Society of Genetic Counselors (NSGC) annual meeting being held Nov. 58, 2019 in Salt Lake City.

"We are excited to present new data from seven studies at this years NSGC meeting," said Susan Manley, MS, CGC, MBA, senior vice president of Medical Services at Myriad Genetics. Our presentations highlight the companys commitment to advancing precision medicine in oncology and womens health.

A list of presentations at 2019 NSGC is below. Please visit Myriad Genetics at booth #711 to learn more about our leading portfolio of precision medicine products. Follow Myriad on Twitter via @myriadgenetics and follow meeting news by using the hashtag #NSGC19.

myRiskHereditaryCancer

ForesightCarrierScreen

AishwaryaArjunan

PrequelTMPrenatalScreen

About Myriad myRisk Hereditary CancerThe Myriad myRisk Hereditary Cancer test uses an extensive number of sophisticated technologies and proprietary algorithms to evaluate 35 clinically significant genes associated with eight hereditary cancer sites including: breast, colon, ovarian, endometrial, pancreatic, prostate and gastric cancers and melanoma.

AboutForesight Carrier ScreenThe Myriad Foresight Carrier Screen is designed to maximize detection of at-risk couples for serious, prevalent, and clinically-actionable conditions. Foresight has a rigorous disease selection that focuses on 175+ conditions that provides meaningful information to patients. Additionally, Foresight offers superior technology with unmatched detection rates for the vast majority of genes on the panel (>99% across ethnicities) which means patients can trust both positive and negative results.

About PrequelTM Prenatal ScreenThe Myriad Prequel Prenatal Screen is a noninvasive prenatal screen that uses cell-free DNA (cfDNA) to determine if a pregnancy is at an increased risk for chromosome abnormalities, such as Down syndrome. Prequel has been shown to be superior to screening methods that use maternal age, ultrasound and serum screening. Additionally, Prequel has a lower false-positive rate and false-negative rate than these other methods. The Prequel Prenatal Screen can be ordered with the Foresight Carrier Screen and offered to all women, including those with high body mass index, and ovum donor or a twin pregnancy.

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 2019 National Society of Genetic Counselors Meeting being held Nov. 58, 2019 in Salt Lake City; 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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Myriad Genetics to Present Seven Studies at the 2019 National Society of Genetic Counselors Annual Meeting - BioSpace

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Machine-Based CT May Help Identify BAP1 Mutation Status in Clear Cell Renal Cell Carcinoma – Cancer Therapy Advisor

October 28th, 2019 1:44 pm

A machine learning-based unenhanced computed tomography (CT) texture analysis may be a useful tool for predicting BRCA1-associated protein I (BAP1) mutations status in patients with clear cell renal cell carcinoma (ccRCC), according to a recent study.

Previous research has shown that a BAP1 mutation is an unfavorable factor for survival in patients with clear cell RCC; however, existing literature on BAP1 mutation lacks studies that consider the reliability of texture features in their workflow.

This study attempted to conduct texture analysis on samples of RCC. Texture analysis is a quantitative image processing method that identifies repetitive patterns that may not be perceptible with the human eye.

Recognizing molecular genetics of ccRCCs holds promise to classify patients more accurately, offering a better prediction of patient prognosis and personalized treatment strategies, the researchers wrote.

They used texture features with a high interobserver agreement to develop and validate a machine learning-based radiomic model to predict BAP1 mutations status. They analyzed 65 patient samples.

Out of 744 textures features identified, 468 had an excellent interobserver agreement. Using selected features, a random forest plot correctly classified 84.6% of the labelled slices for BAP1 mutation status; the area under the receiver operating characteristic curve was 0.897.

For predicting clear cell RCCs with BAP1 mutation, sensitivity was 90.4%, specificity was 78.8%, and precision was 81%. For predicting clear cell RCCs without BAP1 mutation, the sensitivity was 78.8%, specificity 90.4%, and precision 89.1%.

The researchers acknowledged the small number of patients in the study and its retrospective design as potential limitations.

Reference

Kocak B, Durmaz ES, Kaya OK, Kilickesmez O. Machine learning-based unenhanced CT texture analysis for predicting BAP I mutation status of clear cell renal cell carcinomas [published online October 21, 2019]. Acta Radiol. doi: 10.1177/0284185119881742

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Machine-Based CT May Help Identify BAP1 Mutation Status in Clear Cell Renal Cell Carcinoma - Cancer Therapy Advisor

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