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Industry collaboration overcomes significant bottleneck for gene therapy production – EPM Magazine

October 29th, 2019 2:45 pm

The Centre for Process Innovation (CPI) has announced it has overcome a significant bottleneck in the development of gene therapies.

CPI said its CRD IUK project, which was launched in partnership with Cobra Biologics and GE Healthcare Life Sciences, has been successful in its aim to develop a scalable, cost-effective purification process for adeno-associated viruses (AAVs).

AAVs are a vital technology for the delivery of gene therapies into patients. By transporting genetic material into patient cells, AAVs are able to provide a cure for otherwise untreatable diseases.

However, manufacturers are currently hindered by the low efficiency of AAVs production, which slows down the overall development timescale of gene therapies, ultimately increasing the cost for payers in healthcare systems.

The CRD IUK project was funded by a 570K grant from Innovate UK and focused on optimising an AAV purification process using GE Healthcare Life Sciences Fibro chromatography material. The material is based on electrospun cellulose nanofibers that contain different chromatography functionalities, overcoming the limitations of existing chromatographic supports.

Whilst the technology was understood to be highly effective for purification of biomolecules, the CRD IUK project extended the technologys effectiveness to AAVs. After assessing the technology, a multistep purification process was developed for AAV purification.

Daniel Smith, chief scientific officer, Cobra Biologics, said:We are delighted to have been part of this collaboration working to develop robust processes for use in the development of gene therapies. This project has provided a scalable, cost-effective fibre-based chromatography method for production of AAVs that will greatly enhance development of innovative new treatments.

John Liddell, chief technologist, CPI, said: Gene therapies have the potential to be transformative for disease areas with unmet clinical need, and effective manufacturing processes are crucial for reaching the time and cost points necessary for achieving commercialisation. This was the second Innovate UK-funded project related to viral vectors for CPI and therefore further enhances the Catapult centres ability to support growth of this emerging sector, which has been confirmed in subsequent gene therapy projects.

Oliver Hardick, business leader, Puridify, GE Healthcare Life Sciences, added: This has been an excellent collaboration with Cobra Biologics and CPI. Together, we have made a big step forward in the production of viral vectors to be used in gene therapies. The success of the project will significantly reduce the cost and time associated with development and manufacturing of AAVs, helping to accelerate delivery of gene therapy products to market.

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Industry collaboration overcomes significant bottleneck for gene therapy production - EPM Magazine

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New report predicts growth of gene therapies for neurology indications – European Pharmaceutical Review

October 29th, 2019 2:45 pm

A new report has predicted that gene therapy development will pick up pace but a high price point continues to pose a challenge.

According to a new report, ongoing collaborations between different industry players and a buildup of real-world evidence establishing safety and efficacy are expected to drive the growth of gene therapies for neurology indications.

The report from GlobalData, continues that, of the 38 pipelines products that are currently in development, 45 percent are adeno-associated virus (AAV) based delivery platforms. Other types include Lentiviral, which accounts for 13 percent.

A majority of the current pipeline products are in Phase II development and the most common neurology indications for which gene therapies are currently being evaluated include Parkinsons disease, pain and amyotrophic lateral sclerosis, said Vinie Varkey, Senior Analyst at GlobalData. The dominance of viral vectors is expected to continue as such platforms account for the bulk of these pipeline products, with adeno-associated virus being the most common among the viral vectors.

A high price point poses a challenge for the development of gene therapies, Varkey says, with key opinion leaders (KOLs) interviewed by GlobalData highlighting the need to create sustainable funding solutions so that such therapies become accessible to patients everywhere irrespective of where patients are located.

While the development of gene therapies are expected to pick up pace, the next wave of such therapies are expected to be ones that target diseases that are more frequent.

While monogenic rare diseases are the obvious first-to-go choice for which gene therapies can be developed, targeting more frequent diseases will need a holistic approach in order to address a wider mechanism of action, Varkey concludes. If gene therapies for frequent diseases do become available, then that will result in a more pronounced effect on healthcare not only in terms of providing better treatment options for patients but also test the ability of healthcare organisations to adapt with high price points of these therapies.

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Using a one-and-done gene therapy to treat wet AMD – AOP

October 29th, 2019 2:45 pm

US researchers have highlighted the potential of using gene therapy to treat wet age-related macular degeneration (AMD) at the annual meeting of the American Academy of Ophthalmology (1215 October, San Francisco).

Dr Szilard Kiss, from Weill Cornell Medical College, shared his belief that a gene therapy for wet AMD could be available within the next three to five years.

Dr Kiss and his team developed a vector that inserts genetic material producing a molecule similar to anti-VEGF medicine aflibercept within the cells of the eye.

Once inserted, the DNA sequence begins making aflibercept protein.

Instead of taking a vile of aflibercept and injecting it into the eye, your eye makes the aflibercept, Dr Kiss highlighted.

The goal is a potentially one-and-done treatment. You may need a booster once in a while, but this gene therapy could theoretically last a lifetime, he added.

Image credit: Pixabay/PublicDomainPictures

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Gates Foundation and NIH pledge $200 million for gene therapies – BioNews

October 29th, 2019 2:45 pm

28 October 2019

The Bill and Melinda Gates Foundation has teamed up with the National Institutes of Health (NIH), the US national science funding body, to pledge US$100 million each over four years towards development of gene therapies for HIV and sickle cell anaemia. Their intention is to make gene therapies globally accessible, particularly in low resource areas in the USA and sub-Saharan Africa.

'This unprecedented collaboration focuses from the get-go on access, scalability and affordability of advanced gene-based strategies for sickle cell disease and HIV to make sure everybody, everywhere has the opportunity to be cured, not just those in high-income countries,' said Dr Francis Collins, the director of NIH. 'We aim to go big or go home.'

Significant advances have been made in gene therapy in recent years, made possible by new technologies such as CRISPR genome editing. Those techniques that are now becoming available, for example to treat inherited blindness, neuromuscular disease and leukaemia, are currently expensive and challenging to deliver.

In most cases, the approaches involve removing cells from the body, editing or removing genes, then reintroducing the cells, a risky process that requires a good medical infrastructure. The collaboration between the Gates Foundation and the NIH aims to overcome this hurdle to access in lower income countries by developing approaches that can be delivered directly into the body without the need to remove cells first.

The two diseases named in the proposal, sickle cell anaemia and HIV, are major global health burdens. Approximately 38 million people live with HIV worldwide, with 67 per cent of those sub-Saharan Africa, half of whom are living untreated. Fifteen million babies will be born with sickle cell disease globally over the next 30 years, with about 75 percent of those births in sub-Saharan Africa.

'We are losing too much of Africa's future to sickle cell disease and HIV,' said Matshidiso Rebecca Moeti, regional director for Africa at the World Health Organisation. 'Beating these diseases will take new thinking and long-term commitment. I'm very pleased to see the innovative collaboration announced today, which has a chance to help tackle two of Africa's greatest public health challenges.'

'Yes, this is audacious,' Dr Collins said. 'But if we don't put our best minds, resources, and visions together right now, we would not live up to our mandate to bring the best science to those who are suffering.'

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Biotech Companies In Gene Therapy Launch On Rumors Roche Clinched Takeover Of Spark – Investor’s Business Daily

October 29th, 2019 2:45 pm

Shares of gene therapy biotech companies vaulted higher Thursday on rumors the U.S. Federal Trade Commission cleared Roche's (RHHBY) takeover of Spark Therapeutics (ONCE).

On the stock market today, Spark stock rocketed 7.5%, to 108.64, in huge volume, after Twitter exploded with rumors the deal had passed FTC muster. Shares of Uniqure (QURE), often seen as a prime takeover candidate among gene therapybiotech companies, popped 8.3%, to 46.02.

Roche announced its $4.8 billion takeover of Spark in February. The deal was expected to close in the second quarter, but has since been mired in regulatory discussions.

In June, Roche said it and Spark received requests for additional information regarding the proposed transaction from the FTC and the U.K. Competition and Markets Authority. At the time, most believed the deal would close in July.

Earlier this month, the Swiss drugmaker confirmed its plan to buy Spark before year's end.

Representatives of Roche and Spark declined to comment in emails to Investor's Business Daily.

Follow Allison Gatlin on Twitter at @IBD_AGatlin.

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BEYOND LOCAL: How people living with genetic eye conditions can drive vision research forward – TimminsToday

October 29th, 2019 2:45 pm

This article, written byRuanne Vent-Schmidt, University of British Columbia, originally appeared on The Conversation and has been republished here with permission:

Blind and partially sighted people no longer have to wait passively for a research breakthrough in hope of treatment options. In fact, people living with genetic eye conditions can now actively drive vision research forward by enrolling in a patient registry and getting their genes tested.

There are 2.2 billion people living with visual impairment globally. Some are living with inherited retinal diseases that are progressive and can lead to complete blindness. Up until recent years, blind and visually impaired people were told that no treatment is available. This is changing as genetic testing is paving the way for a surge of gene therapies.

My passion for vision research is personal

My doctoral dissertation at the University of British Columbia was on drug therapy for retinitis pigmentosa. This progressive, blinding eye condition is the most common type of inherited retinal disease.

In people affected by retinitis pigmentosa, the light sensing cells in their retina photoreceptors die early. Unlike skin cells that regenerate, the body does not make more photoreceptors once they are damaged.

As a vision scientist affected by retinitis pigmentosa, I am passionate about finding the truth about the disease. Why do photoreceptors die? How can we stop it? How can science and medicine help?

When I was 12 years old, I realized while at summer camp that my night vision was disappearing. In the last two decades, I lost my peripheral vision, contrast sensitivity and depth perception.

I worked in Dr. Orson Moritzs lab at the UBC department of ophthalmology and visual sciences, which focuses on research using tadpoles that contain known human mutations for retinitis pigmentosa to understand the disease.

I made an alarming discovery in our animal model: knowing the genetic cause of retinitis pigmentosa is vital for treatment with one class of drugs histone deacetylase inhibitors. These determine how genes are switched on or off.

A similar study in mice showed that the same drug reacted differently to variations in a single mutant gene that also causes retinitis pigmentosa.

Treating retinitis pigmentosa is like extinguishing fire. To stop a fire, you need to know whether its water-based or grease-based. If you try to use water to stop a grease fire, the damage gets worse.

Enrol in a patient registry

Blind and visually impaired people can advocate for eye health by enrolling in a patient registry. Participation in a registry benefits researchers by offering more information about the disease.

In Canada, individuals can self-refer to Fighting Blindness Canadas secure, clinical patient registry. This database is dedicated to connecting people living with retinal eye diseases to clinical trials and research.

When a gene therapy trial arises, researchers draw participants from this database. Since gene therapy aims to correct an underlying genetic mistake in DNA that causes disease, knowing the genetic cause of a disease is a criteria for most gene therapy trials.

Globally, other registries include My Retina Tracker in the United States, Target 5000 in Ireland, MyEyeSite in the United Kingdom, the Australian Inherited Retinal Disease Registry and Japan Eye Genetics Consortium. In New Zealand, Dr. Andrea Vincent has established the Genetic Eye Disease Investigation Unit. There is even a Blue Cone Monochromacy Patient Registry for one rare eye condition.

Blossoming gene therapy trials

In the last two decades, the number of gene therapy trials has blossomed. Currently, 250 genes on inherited retinal diseases have been identified. In 2017, the first gene therapy for inherited retinal disease Luxturna was approved by the United States Federal Drug Administration.

To date, there are trials for: retinitis pigmentosa; Usher syndrome, a condition that involves hearing and vision loss; achromatopsia, a disease that causes colour blindness; X-linked retinoschisis, a dystrophy that causes splitting of the retina and affects mostly in males; and age-related macular degeneration, the third-largest cause of vision loss worldwide, caused by the interplay between genetics and environment.

Enrolment in a patient registry and genetic testing advance the design of gene therapy trials. This in turn benefits blind and visually impaired people.

Research advancement is a concerted effort across the globe blind and partially sighted people should know they have the power to push it forward.

Ruanne Vent-Schmidt, PhD Candidate, Cell & Developmental Biology, University of British Columbia

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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Catalent to Discuss Accelerating Development in Biologics and Gene Therapies as well as Oral Outsourcing Market Trends at CPhI Worldwide – Yahoo…

October 29th, 2019 2:45 pm

Catalent (stand 121A82), the leading global provider of advanced delivery technologies, development, and manufacturing solutions for drugs, biologics, gene therapies, and consumer health products, today announced a busy conference program at the forthcoming CPhI Worldwide annual conference, being held at the Messe Frankfurt, Frankfurt, Germany, on Nov. 5 - 7, 2019.

SOMESET, N.J., Oct. 29, 2019 /PRNewswire-PRWeb/ -- Catalent (stand 121A82), the leading global provider of advanced delivery technologies, development, and manufacturing solutions for drugs, biologics, gene therapies, and consumer health products, today announced a busy conference program at the forthcoming CPhI Worldwide annual conference, being held at the Messe Frankfurt, Frankfurt, Germany, on Nov. 5 7, 2019.

On Tuesday, Nov. 5 at 10:30 a.m., Jeremie Trochu, Vice President, Operations, Oral Drug Delivery, will participate in a panel session titled "Exploring Trends in Contract Manufacturing". Panelists will discuss market trends that are currently impacting contract development and manufacturing organizations (CDMOs), and how CDMOs have evolved their strategies to meet the unmet needs of the industry, as well as drive growth.

On Wednesday, Nov. 6 at 10:30 a.m., during the "Understanding the Cell & Gene Technology Opportunity" panel session, Thomas VanCott, Ph.D., Chief Technology & Strategy Officer, Paragon Gene Therapy (part of Catalent Biologics), will discuss ways in which CDMOs can create the correct infrastructure to support innovation, and the sector's commercialization and pricing challenges. Dr. VanCott will also discuss the various investment opportunities offered by the cell and gene therapy sector.

During the BioProduction conference, on Thursday, Nov. 7 at 12:20 p.m., Melanie Lasher, Manager, Project Management, Catalent Biologics will present "Beating the Clock: Case Studies in Accelerating Biologic Development" in the conference's "Manufacturing Strategies & Bioprocessing 4.0" stream. Using case studies, Ms. Lasher will highlight and discuss how previous challenges to reduce scheduling delays and accelerate timelines were overcome in projects progressing from cell line development to clinical trial supply.

Mr. Trochu joined Catalent in 2012, following 10 years at General Electric where he held several commercial leadership positions within its healthcare division. His current role sees him lead Catalent's global oral solid pharmaceutical development services. Mr. Trochu received a master's degree in international management from Emlyon Business School, cully, France.

Dr. VanCott joined Paragon following 14 years as the President and CEO of Advanced Bioscience Laboratories, Inc. (ABL). Before joining ABL, he held several positions at the Henry M. Jackson Foundation for the Advancement of Military Medicine. Dr. VanCott received a doctorate in physical chemistry from the University of Virginia, Charlottesville, Virginia, and a bachelor's degree in chemistry from Dickinson College, Carlisle, Pennsylvania.

Ms. Lasher has more than 10 years' experience in the biopharma industry. She has managed a variety of clinical, process and performance qualification, and commercial projects, supporting drug substance manufacturing, drug product filing, and packaging. Ms. Lasher received a bachelor's degree in management from Indiana Wesleyan University, Marion, Indiana, and is a certified Project Management Professional.

At the conference, Catalent will also be exhibiting and showcasing its multiple innovative technologies, including its OneBio platform, which has been shortlisted for a CPhI Excellence in Pharma Award, in the "Contract Services and Outsourcing" category. The winners will be announced at a gala dinner on Tuesday, Nov. 5.

Earlier that day and on Wednesday Nov. 6 at 4 p.m., Catalent will host a networking reception on their stand. For more information visit stand 121A82 or http://www.catalent.com.

To arrange a meeting with any of the attending Catalent experts at the event, contact Richard Kerns at NEPR - richard@nepr.agency.

About Catalent Catalent is the leading global provider of advanced delivery technologies, development, and manufacturing solutions for drugs, biologics, gene therapies, and consumer health products. With over 85 years serving the industry, Catalent has proven expertise in bringing more customer products to market faster, enhancing product performance and ensuring reliable clinical and commercial product supply. Catalent employs nearly 13,000 people, including approximately 2,400 scientists and technicians, at more than 35 facilities, and in fiscal year 2019 generated over $2.5 billion in annual revenue. Catalent is headquartered in Somerset, New Jersey. For more information, visit http://www.catalent.com More products. Better treatments. Reliably supplied.

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Personal Transformation – What It Really Means – SFGate

October 28th, 2019 1:49 pm

Deepak Chopra, Special to SFGate

By Deepak Chopra, MD

Most people have mixed feelings about how their lives are going, which seems inevitable. Taking the bitter with the sweet is an old saying dating back to the 13th century, but it expresses a universal experience. In the face of lifes mixed blessings, however, there runs a deep yearning for transformation. It is expressed through visons of heaven where eternal bliss is gained, in romantic literature where a perfect life is attained here on earth, and in utopian visions of every kind, including worldwide myths of a lost Eden or a Golden Age.

Is this yearning for transformation mere wish fulfillment, like dreaming of what youd do if you won the lottery? If you are totally pragmatic, the answer is yes, and having abandoned such fantasies you can productively direct your energies to becoming better off by inches and degrees. Even then, modest goals arent always achievable. We settle for half a loaf, or less, because common sense tells us to.

But I think the issue runs deeper than pragmatism. In my new book Metahuman: Unleashing Your Infinite Potential, I propose that the desire for transformation is not only realistic but totally necessary. Transformation is like the total change of state when two invisible combustible gases, oxygen and hydrogen, combine to form a liquid, water, that puts out fires. The essential nature of the two gases give no hint that they could be transformed so completely. But that is what transformation means, as opposed to gradual stepwise change.

What would it mean to totally transform a human being? Despite the stubborn way that people resist change, clinging to beliefs, fears, biases, and personal tastes for no rational reason, we are transformative beings. This can be evidenced in everyday experience.

None of these experiences is alien, yet we dont usually label them transformative. Why not? Because the setup for being human is drastically tilted toward conformity, normality, and conventionality.Every child absorbs, as if by osmosis, that life is a struggle between good and bad, light and dark, desire and frustration, success and failure.

This condition, generally known as duality, is what Metahuman tries to overturn. Duality condemns us to a lifetime of either/or choices. We identify with the choices we make, and then we cling to the identity that results. We shake our heads when we encounter people who have made bad choices, turning for example into racists or xenophobes, but at bottom the problem isnt bad choices and the solution isnt good choices. Either side of the coin keeps you trapped in duality.

Transformation provides an escape route from what is otherwise an all-embracing worldview. All visions of transformation have in common a desire to be liberated, set free from some kind of personal limitation. In exceptional cases, such as the life of the Buddha or Jesus, the vision of transformation renounces everything duality holds out as the good life.To be in the world but not of it is as radical as seeking to escape the eternal cycle of pleasure and pain.

In Metahuman I dont argue for radical transformation in that way. Instead of presenting transformation as a far-away goal, I argue that it should be a starting point. The common experiences cited earlier give a clue to what the transformed life is like. It is open to change because change is always with us. It allows rather than resists, because no one can predict where any situation might go.

But the biggest shift occurs in a persons identity. Instead of identifying with all the choices youve made in your life, you identify with the state of awareness you are in. Consciousness becomes your identity. I can illustrate what that means with a simple example. Imagine that you are on a debating team, and the question is Does God exist?In this debate the two teams will draw lots to determine who take which side of the question. As a debater you are prepared to argue for total faith in God or total atheism.

Clearly a good debater can do this, and in our legal system, defense lawyers are often asked to mount an argument for indefensible clients. In everyday life we identify with one viewpoint or the other, faith versus atheism, but in reality we are set up to rise above either position, simply because we can instantly change our perspective. This is more basic than any single perspective, yet we live as if the opposite is true. Every -ism is just a perspective somebody wants to defend and cling to.Nazism is dire while pacifism is benign, but each concept limits your unconditioned consciousness, depriving you of the power of transformation.

My way or the highway has become a noxious trend in todays divisive world, by which polarization has become the status quo. But at a subtler level we all cling to our point of view, having forgotten that to be human is never a point of view. To be human is to go beyond any fixed belief, conditioning, bias, or fixed assumptions. What would it be like to live as if transformation is your true essence? Thats the real issue we should be discussing, because the future of humanity and of the planet depends on the answer we arrive at.

Deepak Chopra MD, FACP, founder ofThe Chopra Foundationand founder of Chopra Global and co-founder of Jiyo, is a world-renowned pioneer in integrative medicine and personal transformation, and is Board Certified in Internal Medicine, Endocrinology and Metabolism. He is a Fellow of the American College of Physicians and a member of the American Association of Clinical Endocrinologists and Clinical Professor of Family Medicine and Public Health at the University of California, San Diego. Chopra is the author of more than 85 books translated into over 43 languages, including numerous New York Times bestsellers. His latest book is Metahuman: Unleashing Your Infinite Potential. Chopra hosts a new podcast Infinite Potential and Daily Breath available on iTunes or Spotifywww.deepakchopra.com

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Health providers see hope on the horizon with integrated approach – Daily Inter Lake

October 28th, 2019 1:49 pm

Daily Inter Lake - Local News, Health providers see hope on the horizon with integrated approach '); $(this).addClass('expanded'); $(this).animate({ height: imgHeight + 'px' }); } } }); }); function closeExpand(element) { $(element).parent('.expand-ad').animate({ height: '30px' }, function () { $(element).parent('.expand-ad').removeClass('expanded'); $(element).remove(); }); } function runExpandableAd() { setTimeout(function() { $('.expand-ad').animate({ height: $('.expand-ad img').height() + 'px' }); }, 2000); setTimeout(function() { $('.expand-ad').animate({ height: '30px' }); }, 4000); } function customPencilSize(size) { var ratio = 960/size; var screenWidth = $('body').width(); if (screenWidth > 960) screenWidth = 960; $('.expand-ad__holder').parent('.ad').css('padding-bottom', (screenWidth / ratio) + 'px'); $('.expand-ad__holder').css({ height: (screenWidth / ratio) + 'px' }); $('.expand-ad').css({ height: (screenWidth / ratio) + 'px' }); $('.expand-ad img').css('height', 'auto'); $('.expand-ad embed').css('height', 'auto'); $('.expand-ad embed').css('width', '100%'); $('.expand-ad embed').css('max-width', '960px'); } function customSize(size, id) { var element = jQuery('script#' + id).siblings('a').children('img'); if (element.length 960) screenWidth = 960; element.css('height', (screenWidth / ratio) + 'px'); } (function () { window.addEventListener('message', function (event) { $(document).ready(function() { var expand = event.data.expand; if (expand == 'false') { $('.expand-ad__holder').removeClass('expand-ad__holder'); $('.expand-ad').removeClass('expand-ad'); } }); }, false); function loadIframe(size, id) { $('.ad').each(function () { var iframeId = $(this).children('ins').children('iframe').attr('name'); var element = $(this).children('ins').children('iframe'); if (element.length > 0) { var ratio = 960 / size; var screenWidth = $('body').width(); if (screenWidth > 960) screenWidth = 960; element.css('height', (screenWidth / ratio) + 'px'); } }); } })();

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Counseling Center Gives Treats (No Tricks) on Halloween – Patch.com

October 28th, 2019 1:49 pm

It is the mission of the NJ Center for the Healing Arts, Inc. to provide access to opportunities for the integration of mind, body, emotions and spirit through counseling, medicine, complementary healing arts, educational resources, cultural and artistic expression, and the celebration of community.

NJCHA was one of the first integrated mental health and wellness centers in the country and has been offering a multidisciplinary approach to healing since 1987. Understanding that each person is a biopsychosocial being, influenced by many factors (including genetics, behavior and the environment), the emphasis at NJCHA is health of body, mind and spirit.

Creative Expressive Therapies and Art Therapy

Creative Expressive Therapies use techniques that help clients explore feelings, dreams, memories and ideas and to provide a means of creative expression for that which has no words. No artistic skill is necessary. The goal is to resolve conflict. Though a non-threatening form of therapy for children, creative expressive techniques are for people of all ages. They are especially effective when dealing with trauma, depression, and loss, recovering from abuse and for management of anger.

Sand Tray Therapy

Sand Tray Therapy is a symbolic process that has the power to reach deep unconscious content without words or analysis. It works on the premise that the human psyche is capable of healing itself when given the opportunity and the right conditions. Using a tray filled with sand, participants are given minimal instructions. They select from numerous objects and then arrange their selections in the tray. The therapist is a witness to the creation of the world in sand as the process unfolds and the story is told.

Mandala Assessment (MARI Cards)With the use of mandala drawings, symbols, colors and some dialogue, the MARI Card process can assist individuals in understanding their present states of being. An assessment and research instrument developed by Joan Kellogg, MA, ATR, it is grounded in Jungian theory and cross-cultural studies. This process can assist in understanding life issues that are seeking immediate attention. The process begins with a mandala drawing. This is a drawing in a circle, which is a universal symbol of self and wholeness. It represents the totality of the world -- one's individual world. Then, cards with symbols are selected and colors cards are chosen that help to reveal the essence of a story that is primary in the immediate moment to the individual engaged in the process. The MARI CARDS provide an experiential way to access wholeness and give focus so that action can be taken. This self discovery process is not covered by insurance.

Halloween

Visit our center on Halloween to learn more about our not-so-spooky approach to mental health and wellness! We'll have treats for children and adults alike, as well as a fun Halloween craft!

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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

The Global Vitamin And Mineral Supplementmarket research report added by Report Ocean, is an in-depth analysis of the latest trends, market size, status, upcoming technologies, industry drivers, challenges, regulatory policies, with key company profiles and strategies of players. The research study provides market introduction, VITAMIN AND MINERAL SUPPLEMENT market definition, regional market scope, sales and revenue by region, manufacturing cost analysis, Industrial Chain, market effect factors analysis, VITAMIN AND MINERAL SUPPLEMENT market size forecast, 100+ market data, Tables, Pie Chart, Graphs and Figures, and many more for business intelligence.

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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.

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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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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