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Archive for the ‘Molecular Genetics’ Category

Pub talk will explore links between icefish and human aging – AroundtheO

Saturday, November 9th, 2019

Fish that adapted to survive in the frigid waters of Antarctica offer a gateway to better understand the genetics of human aging, but the fish are being threatened by climate change, says University of Oregon biologist John Postlethwait.

Thats the message he will deliver Nov. 13 in a Quack Chats pub talk at Eugenes Downtown Athletic Club, 999 Willamette St. The talk will begin at 6 p.m. in the third-floors Ax Billy Grill.

These are remarkably beautiful and complex animals, said Postlethwait, a professor emeritus and member of the UOs Institute of Neuroscience. Climate change is threatening them. We need to study them more before they become extinct or try to change the conditions so that we limit the effects of climate change and maybe reduce the chances of extinction.

Postlethwait traveled five times to Antarctica between 2008 and 2018 with funding from the National Institutes of Health and National Science Foundation. He has studied dragonfish and icefish, primarily the low bone mineralization that evolved in bottom-dwelling icefish to allow them to increase their buoyancy and rise in the water column to feed.

That adaptation of turning off certain genes to become less dense in the absence of swim bladders think lungs in humans began about 30 million years ago as Antarctic waters cooled. Todays seawater temperature there hovers just below the freezing point of fresh water.

The bones in these fish look like old peoples bones, said Postlethwait, who ran a marathon in Antarctica during one of his research trips. As people age, they turn off or turn down the genes that are important for maintaining bone health.

In his talk, Dragons and Icefish: Surviving Frigid Antarctic Seas, hell detail the biology and molecular genetics of these Antarctic fish and how they hold genetic clues that may be useful for understanding anemia, oversized hearts and low bone-mineral density in humans.

The potential human health payoff was boosted earlier this year when an international team that included Postlethwait and six other UO researchers published the complete genome sequence for Antarctic blackfin icefish.

To learn more about upcoming Quack Chats, see the Quack Chats section on Around the O. A general description of Quack Chats and a calendar of additional Quack Chats and associated public events also can be found on the UOs Quack Chats website.

By Jim Barlow, University Communications

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Myriad Genetics to Present at the 2019 Stephens Nashville Investment Conference – Yahoo Finance

Saturday, November 9th, 2019

SALT LAKE CITY, Nov. 07, 2019 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (MYGN), a leader in molecular diagnostics and precision medicine, announced today that Bryan Riggsbee, CFO, is scheduled to present at the Stephens Nashville Investment Conference at 12:15 p.m. EST on November 13, 2019, in Nashville.

The presentation will be available to interested parties through a live audio webcast accessible through a link in the investor information section of Myriads website at http://www.myriad.com.

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

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

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Myriad Genetics to Present at the 2019 Stephens Nashville Investment Conference - Yahoo Finance

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UBC cannabis researchers find that "frosty" flowers mean potent pot – Straight.com

Saturday, November 9th, 2019

A team of UBC researchers used advanced techniques in microscopy and chemical profiling to determine that cannabis flowers with the biggest hairs produce the most CBD, THC, and fragrance-emitting terpenes.

The research was the first to detail the structures and chemical-creating abilities of the three kinds of frostlike pot hairsstalked, sessile, and bulbouscalled glandular trichomes.

Finola, a fast-flowering hemp variety of Cannabis sativa, was used by the team, which included researchers from UBC's Wine Research Centre and the Michael Smith Laboratories.

Teagen Quilichini, the study's co-lead author and a postdoctoral fellow with the botany department, said in an October 28 UBC news release that the study is an important beginning for subsequent research.

Despite its high economic value, our understanding of the biology of the cannabis plant is still in its infancy due to restricted legal access, Quilichinisaid. Trichomes are the biochemical factories of the cannabis plant and this study is the foundation for understanding how they make and store their valuable products.

The paper"Cannabis glandular trichomes alter morphology and metabolite content during flower maturation"appeared in the August 30 edition of the Plant Journal.

Anne Lacey Samuels, a botany professor and principal investigator for the study, said in the release that there could be many downstream benefits of the research.

We found a treasure trove of genes that support the production of cannabinoids and terpenes. With further investigation, this could be used to produce desirable traits like more productive marijuana strains or strains with specific cannabinoid and terpene profiles using molecular genetics and conventional breeding techniques.

The UBC team determined under ultraviolet light that the stalked trichomes glowed blue and had large, distinctive secretory discs of cells that looked like microscopic mushrooms or hamburgers.

We saw that stalked glandular trichomes have expanded 'cellular factories' to make more cannabinoids and fragrant terpenes, co-lead author Sam Livingston said in the release. We also found that they grow from sessile-like precursors and undergo a dramatic shift during development that can be visualized using new microscopy tools."

Livingston, a botany department PhD candidate, noted thatUV lightmight be used todetermine flowers' trichome maturity so growers would know the best times to harvest.

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UBC cannabis researchers find that "frosty" flowers mean potent pot - Straight.com

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Q&A: Everything You Need to Know About the Future of CRISPR-Cas9 – Philadelphia magazine

Saturday, November 9th, 2019

Q&A

Penn's Kiran Musunuru talks to us about the technology that has been both praised and criticized for its ability to alter human DNA and potentially cure disease.

Kiran Musunuru is an associate professor of medicine in genetics in the Perelman School of Medicine at the University of Pennsylvania. / Courtesy

CRISPR, the technology being used to edit genes in humans, remains polarizing. On one end, detractors argue that using the technology for certain purposes, like performing gene editing on embryos, is not only dangerous but unethical. On the other end, proponents say CRISPR has the potential to revolutionize human health, and early data shows they might be right. Despite a medical community that is still split on the issue, researchers in the U.S. are kicking tests of the technology into high gear. Several clinical trials have launched in the U.S. testing CRISPRs ability to treat various diseases.

NextHealth PHL spoke with Kiran Musunuru, an associate professor of medicine in genetics at the Perelman School of Medicine at the University of Pennsylvania about the true potential of CRISPR technology and how we can expect it to evolve in the future.

NextHealth PHL: What exactly is CRISPR?Musunru: CRISPR is sort of a catch-all term that covers a variety of technologies. If youre saying CRISPR, youre referring to a broad set of tools that may do it in different ways but are all intended to do a form of gene editing or genome editing.

How do basic CRISPR technologies work?The simplest form of CRISPR, what I call version 1.0, is the original standard CRISPR that most laboratories and companies interested in developing new therapies use. It is a two-component system. There is a protein and an RNA molecule thats about 100 bases in length. The protein and the RNA molecule come together to create what well call a molecular machine and the purpose of this molecular machine is to scan across any DNA molecule it encounters. So if you put the CRISPR-Cas9 into the nucleus of a human cell, this molecular machine will scan the entire genome.

The machine has two key functions built into it; the first is a GPS function. When you change the first 20 bases in a DNA length (the first 20 bases is basically the address) to whatever address you want, the GPS function makes the machine go through the entire genome and find the sequence that matches the address. The second function of this machine is to protect the genome, like a search-and-destroy function. You put in the address, it goes to that matching place in the genome and then it makes a cut in the DNA.

Cutting the DNA is actually a bad thing but the cells have ways to try to fix that break, and the actual editing is a result of the cell trying to fix that break in the DNA, not from CRISPR itself, interestingly enough.

How does CRISPR turn a break in someones DNA into a good thing?There are a few ways this can happen. The safest thing you can do is to break a gene or turn off a gene. The metaphor I like to use is to think of the whole genome as a book, and each chromosome in the genome is a chapter in the book, and each gene is a paragraph in the chapter. Together, it all has a meaning. But lets say you had to turn off a gene, the equivalent of making that break in the DNA would be like tearing the page through that paragraph. So, the simplest thing the cell can do and will try to do is to simply tape that tear back up. But as you can imagine, sometimes you tape it back up and its fine, the paragraph is still legible and the meaning is still there, and it eventually heals and functions like it did before. But in this case, thats actually not what you want. The outcome that you want with CRISPR is that you actually want to turn off the gene, not to rip it and make it the way it was before.

What has to happen is when you make the tear, the tear is so rough, you get those jagged edges and you try to tape it up but it doesnt quite fit, the letters dont quite match up. You tape it up as best as you can but its illegible, some letters are lost, and the meaning of the paragraph is lost. Thats exactly what happens with gene editing, the cell tries to repair that break in the DNA, doesnt get it quite right, and loses some bases and that messes up the gene and turns it off.

However, in this scenario, you cant really control what happens. All you can hope for is that that tear you make is going to mess up the gene and thats okay if all youre trying to do is turn it off. Most of the trials underway now are about turning off the gene, and theyre all taking advantage of the fact that its relatively easy to mess up genes and turn off genes. Just like tearing a page its crude, but its effective.

Theres CRISPR 1.0, this first generation of the technology thats not very precise and is a bit arduous. What are the newest forms of CRISPR and how are they better than earlier versions of the technology? There is a newer form of the technology called base editing that keeps the GPS function intact but removes the cutting function. In place of the cutting function, it attaches another machine onto CRISPR and makes chemical modifications in certain areas. This version of CRISPR is more like a search and replace. CRISPR provides the search but then another machine attached to it is doing the replacing. With base editing you can make more precise changes, but only rarely will it make exactly the type of change you want.

The latest form of CRISPR is called prime editing, and we still dont have a good sense of how well it works because its so new. Whats tantalizing is that it looks like it can turn CRISPR into a precise word processor or an eraser that allows you to erase a letter and put in a new letter. CRISPR is very much a wave of technology, and as it gets better, its going to allow us to do more and more powerful things.

There are some extreme ideas about what CRISPR can do. Some believe scientists can use the technology to alter hair or eye color or give patients superhuman athletic or intellectual abilities. Is any of this possible with CRISPR?It depends on what traits youre talking about changing. Since eye color and hair color are controlled by single genes, you could possibly make a single gene change with CRISPR. The problem is, how do you get CRISPR to go where it needs to go to change your hair or eye color? How do you get it into all your hair follicles or through all the cells in your eye? It might be a simpler change to make, but it might not be easy to do in a live adult. Scientists have now edited human embryos, resulting in live-born people. Theres been a lot of ethical debate about whether thats a good thing. If you want to change something like hair color in a single cell embryo made through in-vitro fertilization, thats a bit different and might not be as difficult.

There are some very complicated things, like intelligence or athletic ability, that are not going to be easy to change. Youd probably have to change hundreds of genes, and thats not going to happen anytime soon. With CRISPR as it is now, maybe you can change one gene; maybe if you really work at it you can change two genes, but hundreds of genes? Youre not going to be able to do that with CRISPR anytime soon.

What has CRISPR been used to treat so far and what could it be used for in the future?There are multiple trials underway to treat rare liver disorders. More recently CRISPR has been used in clinical trials at Penn where at least three patients have been dosed using CAR T immunotherapy. In this case, theyre trying to make patients cells more effective at fighting cancer. But again, that editing is being done outside the body.

There are some things that seem like they would be difficult to treat, but if its the right type of disease and you can get CRISPR to where you need it to go, it might work. One example is in sickle cell disease. The cells that you need to fix in sickle cell disease are in the bone marrow. Fortunately, bone marrow is relatively straight forward to work with. You take the cells out and edit them with some form of CRISPR outside of the body and then put them back in.

Something like cystic fibrosis would be much harder because it affects the entire surface of potentially multiple organs inside the body. Its much harder to deliver CRISPR to all of those places in the body.

There are two other clinical trials that have started in the U.S. One is from a company called CRISPR Therapeutics to treat sickle cell disease and similar blood disorders. Theres another trial underway to treat a genetic form of blindness and this editing would actually happen inside the body.

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Q&A: Everything You Need to Know About the Future of CRISPR-Cas9 - Philadelphia magazine

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Postdoctoral Researcher, Neuroecology – The Conversation AU

Saturday, November 9th, 2019

About the role

The Neuroecology Research Laboratory lies at the intersection of two major fields of biology (Neurobiology: the study of the nervous system, and Ecology: the study of the interaction between living organisms and their environment). Neuroecology bridges the gap between our knowledge of the neural bases of animal behaviour and the consequences of that behaviour in the context of an animal's habitat and ecology.

We are seeking a Postdoctoral Researcher in Neuroecology to join our team within the Department of Physiology, Anatomy and Microbiology (PAM), School of Life Sciences at La Trobe University, Victoria, Australia.

We use innovative neurobiological techniques such as molecular genetics, bioimaging, electrophysiology, anatomy and behaviour to examine how key elements of the physical environment such as light, sound, odours, and electromagnetic fields are detected and processed by the peripheral and central nervous systems and how this influences their behaviour. The ability to perceive these environmental cues is critical to the survival of each species. Model indicator species are used to assess how ecosystems may be faring in light of climate variability and habitat loss or degradation.

Skills & Experience

Benefits

Please click on this link for a full list of Benefits http://www.latrobe.edu.au/jobs/working/benefits

How to Apply

Closing date: 11pm Sunday 8th December 2019

Position Enquiries: Prof Shaun Collin, TEL: +61 (0)3 9479-3671 Email: s.collin@latrobe.edu.au

Position Description below:

PD Level A Postdoc Neuroecology.pdf

Please submit an online application ONLY and include the following documents:

Please scroll down to apply.

La Trobe University is an Equal Opportunity Employer.

All La Trobe University employees are bound by the Working with Children Act 2005. If you are successful, you will be required to hold a valid Victorian Employee Working with Children Check prior to commencement.

For further enquiries on how to apply for this role, please contact Recruitment Partner Justin Bolton on +61 (0)3 9479 1073

To apply and to view position description please visit http://www.latrobe.edu.au/jobs and search for job number 559000 under current vacancies.

About La Trobe

La Trobe University's success is driven by people who are committed to making a difference. They are creative and highly motivated, pursue new ideas and create knowledge. La Trobe is one of Australia's research leaders, and the largest provider of higher education to regional Victoria. La Trobe University turned 50 in 2017, and over the half century of its existence it has established a reputation as an innovative and accessible university, willing to take risks and take on challenges. Our teaching and research address some of the most significant issues of our time and we're passionate about driving change through operational excellence to benefit the communities we serve.

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Postdoctoral Researcher, Neuroecology - The Conversation AU

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Data researcher to molecular scientist: List of winners of the 11th Infosys Prize 2019 – The News Minute

Saturday, November 9th, 2019

The Prize awarded by the Infosys Science Foundation celebrates the success of the recipients in science and research by recognising their achievements in 6 categories.

Infosys Science Foundation (ISF) on Thursday announced the winners of the Infosys Prize 2019 in six categories - Engineering and Computer Sciences, Humanities, Life Sciences, Mathematical Sciences, Physical Sciences and Social Sciences. The Prize celebrates the success of the recipients in science and research by recognising their achievements in each category. The prize for each category comprises a pure gold medal, a citation and a prize purse of USD 100,000 (or its equivalent in Rupees) this year.

A panel of accomplished jurors comprising renowned scholars and professors shortlisted the winners of Infosys Prize 2019 from 196 nominations. With a history of awarding some of the best talent, who have earned prestigious international honours like Fields Medal and the Nobel Memorial Prize more recently, the ISF believes that this years winners too will leave an indelible impression in their domains. The Infosys Prize not only recognises these outstanding researchers and celebrates their achievements, but in doing so, creates role models who will encourage young minds to explore science as a career option.

S. D. Shibulal, Co-founder, Infosys Limited and President of the Infosys Science Foundation, said, The Infosys Prize continues to recognise exemplary work in scientific research and enquiry. Many Infosys Prize laureates have gone on to contribute significantly in key areas like healthcare, genetics, climate science, astronomy and poverty alleviation, amongst other things. Their work has immediate implications for the human race and the planet. We hope it catalyses social development.

Elaborating on the importance of fundamental research at the event, N. R. Narayana Murthy, Founder Infosys, Trustee Infosys Science Foundation, said, We should start helping our youngsters pursue fundamental research enthusiastically. They should be encouraged and equipped to become contributors to solving huge problems that confront us every day. I want India to be a place where discovery and invention happen every month.

Winners of the Infosys Prize 2019 in the six categories are:

Engineering and Computer Science

The Infosys Prize 2019 for Engineering and Computer Science is awarded to Sunita Sarawagi, Institute Chair Professor, Computer Science and Engineering, Indian Institute of Technology, Bombay for her research in databases, data mining, machine learning and natural language processing, and for important applications of these research techniques. The prize recognises her pioneering work in developing information extraction techniques for unstructured data.

Humanities

The Infosys Prize 2019 for Humanities is awarded to Manu V. Devadevan, Assistant Professor, School of Humanities and Social Sciences, Indian Institute of Technology, Mandi for his original and wide-ranging work on pre-modern south India. He critically reinterprets much of the conventional wisdom about the cultural, religious and social history of the Deccan and south India.

Life Sciences

The Infosys Prize 2019 for Life Sciences is awarded to Manjula Reddy, Chief Scientist, Centre for Cellular and Molecular Biology (CCMB), Hyderabad for her groundbreaking discoveries concerning the structure of cell walls in bacteria. Dr. Reddy and her colleagues have revealed critical steps of cell wall growth that are fundamental for understanding bacterial biology.This work could potentially help in creating a new class of antibiotics to combat antibiotic resistant microbes.

Mathematical Sciences

The Infosys Prize 2019 for Mathematical Sciences is awarded to Siddhartha Mishra, Professor, Department of Mathematics, ETH Zrich, for his outstanding contributions to Applied Mathematics, particularly for designing numerical tools for solving problems in the real world. Prof. Mishra's work has been used in climate models, in astrophysics, aerodynamics, and plasma physics.He has produced codes for complicated realistic problems such as tsunamis generated by rock slides, and waves in the solar atmosphere.

Physical Sciences

The Infosys Prize 2019 for Physical Sciences is awarded to G. Mugesh, Professor, Department of Inorganic and Physical Chemistry, Indian Institute of Science (IISc), Bengaluru for his seminal work on the chemical synthesis of small molecules and nanomaterials for biomedical applications. His work has contributed to the understanding of the role of trace elements, selenium and iodine, in thyroid hormone activation and metabolism, and this research has led to major medical advances.

Social Sciences

The Infosys Prize 2019 for Social Sciences is awarded to Anand Pandian, Professor, Department of Anthropology, Krieger School of Arts & Sciences, Johns Hopkins University for his imaginative work on ethics, selfhood and the creative process. Prof. Pandian's research encompasses several themes such as cinema, public culture, ecology, nature and the theory and methods of anthropology.

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Data researcher to molecular scientist: List of winners of the 11th Infosys Prize 2019 - The News Minute

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TikToks are teaching Generation Z about science – Massive Science

Saturday, November 9th, 2019

Have you ever wondered why you wash your rice or soak it overnight before cooking it? Perhaps you wash your rice grains to enhance taste, reduce starch levels, or maybe that's just the way your family has always prepped rice. Thanks to a tip from science communicator Samantha Yammine who came across Dr. Nausheen Sadiq's neat finding while live-tweeting a forum on Diversity and Excellence in Science it turns out there is another reason why, as washing rice actually helps reduce the concentration of heavy metals, like chromium, cadmium, arsenic, and lead.

Heavy metal contamination in crops can be caused by human activities, such as mining, fertilizers, pesticides, and sewage sludge. Compared to most cereal crops though, rice (Oryza sativa L.) actually accumulates more heavy materials, like cadmium or arsenic, where long-term heavy metal intake can cause health risks. For example, long-term arsenic exposure leads to skin disease, high blood pressure, and neurological effects. This is especially important to consider as rice is a staple food across the globe.

Heavy metal contamination in crops can be caused by human activities, such as mining, fertilizers, pesticides, and sewage sludge.

Photo by TUAN ANH TRAN on Unsplash

In a recent study, researchers investigated the effects of different cooking methods (normal, high-pressure and microwave cooking) on the concentration, bio-accessibility and health risks posed by three heavy metals (cadmium, arsenic and lead) in two strains of brown rice. After cooking 100 grams of brown rice grains, researchers evaluated bioaccessibility (i.e. how much of the heavy metal is released for absorption) by mixing rice samples with simulated gastric fluid, and then used spectrometery to measure heavy metal concentration. Lastly, the researchers calculated the health risk posed by the heavy metals by calculating values such as the average daily dose.

Overall, the researchers found that instead of the three different cooking methods, it was the washing process which significantly reduced concentrations of cadmium, arsenic and lead, suggesting that the reduction may be due to rice morphology. For example, lead is found largely in the outer compartments of rice kernels, so lead is more likely to be removed during rice washing.

In contrast, the three cooking methods did impact bioaccessibility i.e. how much of the heavy metal would be released for absorption by the body. Here, washing and soaking isn't enough as rice absorbs water poorly at 25C. This finding was also reflected in calculated values: the average daily doses of cadmium, arsenic and lead were lower in washed and cooked rice, compared to raw rice.

It's worth noting that the European Commission has enforced limits on heavy metal levels - for example, arsenic is currently limited to 200 parts per billion (ppb) for adults and 100 ppb for infants. Both the U.S. and Canada currently have no limits in place for arsenic in food though Canada is currently reviewing a proposal to add maximum levels for arsenic found in white and brown rice, while the U.S. FDA has previously released a (non-binding) risk assessment, suggesting the same 100 ppb levels as Europe.

So the takeaway here is that yes, your family and all those professional chefs have been right all along. Yes, washing rice involves sacrificing some of its nutritional value, but doing so means you can reduce the levels of heavy metals present in grains, and still enjoy dishes like rice cakes. And returning back to Yammine's reporting, Saudiq actually shared that by soaking and washing rice for ~5 mins, you can get rid of 50-100% of these elements. (Thanks Sam!)

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TikToks are teaching Generation Z about science - Massive Science

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

Monday, October 28th, 2019

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

Monday, October 28th, 2019

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

Monday, October 28th, 2019

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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Electroactive Bacteria: A Mind-Blowing Case of Intelligent Design – Discovery Institute

Monday, October 28th, 2019

Editors note: We are delighted to welcome Otangelo Grasso, a graduate of the Summer Seminar on Intelligent Design, as a contributor.

As journalist Carl Zimmer reported not long ago in the New York Times,Wired Bacteria Form Natures Power Grid: We Have an Electric Planet. Electroactive bacteria were running current through wires long before humans discovered electricity. Now that is worthy of note and analysis. How did they learn this very sophisticated trick?

In a tweet, Zimmer did not hide his amazement, admitting that that the discovery thatmicrobes build electric wires all over the world is mind-blowing. Though an outspoken advocate of unguided Darwinian evolution, Zimmer in his article did not explain how bacteria might have gotten that ability by evolutionary means.

Zimmer isnt the only one to confess his astonishment. Electroactive bacteria were unknown until 1993, when Derek Lovley at the University of Massachusetts at Amherst discovered and describedGeobactermetallireducens. As Lovley told New Scientist in 2010:

They grow biological wires to share energy in the form of electrons. I think its probably one ofthe most surprising things Ive seen working in microbiology. [Emphasis added.]

Some background on respiration may be helpful here. For advanced multicellular organisms, oxygen is essential to life. During aerobic respiration, it is the final acceptor of electrons in the electron transport chain. In anaerobic (non-oxygen breathing) respiration, on the other hand, as in some bacteria, a variety of acceptors other than oxygen exist. Such bacteria thus can survive without oxygen, which is good thing for them. Some bacteria grow in places where there is no oxygen, or too little oxygen for respiration, or where other chemicals that will do the job are more abundant. Indeed oxygen is poisonous to many bacteria. One group ofanaerobic bacteriaare electroactive. Living meters below the Earths surface, and even on the ocean floor, these bacteria are adapted to live in environments inhospitable to most other life forms.

Geobacterbacteria breathe using elements such as iron, sulfur, and uranium. They employ microbial nanowires that conduct electricity (as flowing electrons). Geobacter nanowires are filaments called pili, according to Wikipedia. Pili (plural of pilus) is Latin for hairs. These hairs are thin rod-like appendages, about 1/100,000 the width of a human hair.

Bacteria may have dozensof pili on their surfaces. Bacteria use pili for various functions, including adhesion to surfaces, DNA transfer, locomotion, and gliding. In the most fascinating case, that of electroactive bacteria, they make electrical connections with minerals.

According to another 2010 article in New Scientist:

Some researchers believe that bacteria in ocean sediments are connected by a network of microbial nanowires. These fine protein filaments could shuttle electrons back and forth, allowing communities of bacteria to act as one super-organism. Now Lars Peter Nielsen of Aarhus University in Denmark and his team have found tantalising evidence to support this controversial theory.The discovery has been almost magic,says Nielsen. It goes against everything we have learned so far.Microorganisms can live in electric symbiosis across great distances.Our understanding of what their life is like, what they can and cant do these are all things we have to think of in a different way now.

Specialized pili of the bacteriumGeobacter sulfurreducensconduct electrons from inside the cell to the iron external to the cell. The metal functions as the terminal electron acceptor for respiration. This, again, is in contrast to humans (and most animals, fungi, and plants) where the terminal electron acceptor is oxygen. In our case, during respiration, electrons are removed from oxidized fuels, such as hydrocarbons, or glucose, inside cells. Oxidation entails the loss of electrons. These electrons are then combined with oxygen, from the air you breathe. The oxygen is reduced to water, since reduction is the gain of electrons. Without a terminal electron acceptor, the flow of electrons stops. This means respiration stops, along with the supply of energy from fuels.

If the terminal electron acceptor is solid, like iron, then it cannot be easily imported into the cell. The solution is to leave it outside the cell and to send the electrons to it. The specialized pili conduct electrons from the respiratory system that is, the electron transport system required to make ATP, the energy currency in the cell to the final electron acceptor. Nanowires are among the smallest known electrical wires. And remember, they were doing their job long before humans discovered electricity.

The architecture involved in nanowires is anultracomplex, microtechnological marvel.Earlier this year, researchers at the University of Virginia made a significant advance in unraveling nanowire structure.Nanowires, it turns out, have a core of precisely stacked, ordered, and spaced metal-containing hemes (the active part of hemoglobin in red blood cells). These line up to create a continuous path along which electrons travel:

The technology [to understand nanowires] didnt exist until about five years ago, when advances in cryo-electron microscopy allowed high resolution, said [Edward H.] Egelman, of UVAs Department of Biochemistry and Molecular Genetics. We have one of these instruments here at UVA, and, therefore, the ability to actually understand at the atomic level the structure of these filaments. According to the report of his research, Scientists had believedGeobacter sulfurreducensconducted electricity through common, hair-like appendages called pili. Instead, a researcher at the School of Medicine and his collaborators have determined that the bacteria transmit electricity throughimmaculately ordered fibersmade of an entirely different protein. These proteins surround a core of metal-containing molecules, much like an electric cord contains metal wires. This nanowire, however, is 100,000 times smaller than the width of a human hair.

So Geobacter used highly specialized pili, rather than ordinary pili, to conduct electricity.

The UVA scientists published their results in the journal Cell. The technical details give a sense of the complexity involved:

G.sulfurreducensnanowires are assembled bymicrometer-longpolymerization of thehexahemecytochromeOmcS, with hemes packed within 3.56 [ 1 = 1010m] of each other. The inter-subunit interfaces show unique structural elements such as inter-subunit parallel-stacked hemes andaxial coordination of hemeby histidines fromneighboringsubunits. Wild-type OmcS filaments show100-fold greater conductivitythan other filaments from a DomcS strain, highlighting the importance of OmcS to conductivity in these nanowires. This structure explains theremarkable capacity of soil bacteria to transport electronsto remote electron acceptors for respiration and energy sharing.

Facing daunting technical problems, nature comes up with solutions that are in most cases far more advanced than those in equivalent devices made by man.For example, the journal Environmental Science, published by the Royal Society of Chemistry, reports that some microbes can link with each other to form longer, living electrical cables that allow them to penetrate even deeper into oxygen-free areas. As researchers came to appreciate such ingenious innovations, biomimetics has become a growing field of scientific investigation. Nanowires, among the other wonders of biology, have much to teach us. As Derek Lovleyhas explained:

Microbial nanowires are arevolutionary electronic material with substantial advantages over man-made materials.Chemically synthesizing nanowires in the lab requires toxic chemicals, high temperatures and/or expensive metals. The energy requirements are enormous. By contrast,natural microbial nanowires can be mass-produced at room temperature from inexpensive renewable feedstocks in bioreactors with much lower energy inputs.And the final product is free of toxic components.

How electrons in this context are transported across long distances was unknown until the 1990s, after many physiological, biochemical, and electrochemical experiments. For electron transfer to work, the architecture ofG. sulfurreducenspili must be precisely arranged. As in other living systems, this order is only functional once it is fully set up. How unguided evolutionary mechanisms could produce such a system remains very unclear. One of the few papers to address the origin of electron-conductive pili makes the following claim:

The results suggest that e-pili ofGeobacter sulfurreducensand Geobacter metallireducens, and presumably close relatives, are a relatively recent evolutionary development.

But considerable nanotechnology is required to assemble these marvelous wires. The claim above is not accompanied by any detailed or convincing explanation of how this evolutionary development was accomplished.

Somehow,G.sulfurreducens know how to assemble molecules in their pili in an exact sequential and functional order. The steps involved require the assistance of many elements, including assembly chaperones.Whether these amazing pili can be explained by evolution, without recourse to intelligent design, is of course the key question. The irreducible precision of their construction, though, strongly suggests design. The wires require their several parts to be arranged in just the right way, ordered and stacked in the right sequence, to be able to conduct electrons. Several experiments have demonstrated that if this arrangement of the filaments is not exactly right, electron transfer is not possible.

So, where did nanowires come from? How did they arise? That is a question worth putting to Carl Zimmer.

Image: Nanowires, by Asw-hamburg [CC BY-SA 4.0],via Wikimedia Commons.

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Time to break the stigma on genetic modification, for the sake of the climate – Stuff.co.nz

Monday, October 28th, 2019

OPINION: Recently, there has been a shift in society's view of genetic modification and its potential applications in the fight against climate change. This has led to a call for changes in our current policies from farmers and MPs alike.However, due to the Green Party's current stance on this topic, New Zealand is unable to utilise genetic modification for anything that is not laboratory-based.

I am a member of the Emerging Scientists for Climate Action society, which involves students from universities all over New Zealand. We are writing an open letter to the Greens to encourage them to review their stance on genetic modification and the current laws and regulations around genetic engineering. Our overarching goal to tackle climate change aligns with the Greens, and they are in a position to make positive change. We have 155signatures from emerging scientists (aged under 30) in support.

Genetic modification is a controversial topic, and there is much misunderstandingabout its techniques and applications.Genetic modification (aka genetic engineering) uses gene editing technologies and knowledge of genetics to make changes in an organism for a specific outcome. For example, a plant could be genetically modified to grow bigger to produce a higher yield. There are many gene-editing techniques that can be utilised, which further adds to the misconceptions around its applications. There is warranted concern over the long-term impacts of manipulating organisms at the molecular level, however, does this mean that we should disregard genetic modification altogether?

READ MORE:* New Zealand's anti-science GMO laws need to change to tackle climate change* Gene-editing risks are still too great to warrant a change in the law* Time for a grown-up conversation about gene editing

Our laws and regulations around genetic modification were established in 2001 and fall under the Hazardous Substances and New Organisms Act. That lawregulates research and release of all living things that do not already exist in New Zealand, including those that are genetically modified. However, these regulations have not accounted for the rapid advances in gene editing technology over the last decade, leaving New Zealand behind in the biotechnological sector. The calls for law changes come from all over New Zealand, including government agents such as Professor Juliet Gerrard, the Prime Minister's Chief Science Advisor. Current legal and regulatory frameworks are struggling to keep up with current technologies.

The focus on genetic modification has largely been on food production, such as pesticide-resistant crops and increased growth for higher crop yields. But the scope of genetic engineering expands far beyond this. Genetic engineering techniques have many benefits,including to mitigate the effects of climate change. For example, there has been research into genetically modifying plants to sequester more carbon from the environment, which would assist with lowering rising temperatures.

SUPPLIED

Deborah PaullPostgraduate student - Masters of Science in Microbiology, at the University of Canterbury.

I have been working on projects involving genetic modification, specifically, around genetically modifying milk proteins to reduce the allergenicity. The goal is to produce these proteins through a cellular-agriculture based system that can produce milk products in a more sustainable fashion in comparison to current methods. When discussing this project with people within the dairy industry, the overall remark is that it's a great idea but it will never be produced in New Zealand. It is disheartening to see that the potential benefits of using technology such as this to address climate change hasn't been considered due to our laws.

But it is now 2019, and we have advanced our technology and understanding of genetics in ways we couldn't have imagined. A new generation of emerging scientists has new values and ethical drives, especially focused on preserving our planet for future generations. To mitigate the effects of climate change, we need new and optimised technologies, such as genetic engineering. This is a practical action that could be implemented through highly controlled policy.

It is time to reframe the conversation around genetic modificationIf we hope to reach the carbon neutral targets set in the UN by 2050 while meeting the demands of the increasing population in a sustainable fashion, this is a conversation that we need to have now. The Royal Society has started this discussion, identifying the cultural values involved with using genetic engineering technologies but emphasisinghow New Zealand needs to shift its current view of this technology.

The goal is not to be carelessly modifying organisms for the benefit of a few -it is to utilise knowledge and technology so that as a country we can take a step forward. New Zealand is a world leader in green agricultural technologies. As a forward-thinking country, let's break the stigma surrounding genetic modification and create a better future for ourselves and the generations to come.

DeborahPaullis studying for aMasters of Science in Microbiologyat the University of Canterbury.

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Lupus Study Illustrates the Importance of Diversity in Genetic Research – Nature World News

Monday, October 28th, 2019

Scientists at theHudsonAlpha Institute for Biotechnologyhave pinpointed epigenetic differences in the way lupus affects black women compared to other lupus patients, revealing important mechanics of the puzzling disease. Epidemiologists have identified that lupus impacts black women with greater frequency and severity than other populations. Scientists inDevin Absher's Labat HudsonAlpha published findings in August showing that increased risk and harm to lupus patients can be linked to epigenetic differences--essentially, the degree to which certain genes are functioning.

The finding, published inArthritis & Rheumatology, helps create a more complete understanding of an often misunderstood disease, revealing some of the mechanisms that contribute to it. It also reveals a gap in genetic research, highlighting the lack of information scientists have regarding racial differences on the genetic level.

Devastating Disease

Lupus is an autoimmune disorder, meaning that the immune system attacks healthy cells in the body. It causes symptoms that are often difficult to quantify, including fatigue and extreme joint pain.

Lupus is one of the most historically chronicled diseases, having first been documented by Socrates in 400 BC. The disease gets its name from a common rash that forms on the face which is said to resemble the markings of wolves, hence the latin name "lupus" meaning wolf.

There are more than 200,000 cases of lupus in the US every year, yet there is no universally accepted cause or cure. The disease is chronic, meaning it can last for years or even an entire lifetime.

Megan Breitbach, PhD, is the lead author on the paper. She notes, "The diagnostic process can also prove long and tedious, because the symptoms come and go and often can only be observed through patient description."

"On average," she adds, "it takes six years to diagnose someone with lupus."

While treatment can help manage lupus, the condition cannot be cured. Instead, patients and their physicians try to address symptoms and take the edge off flare-ups.

Molecular Differences

While the disease on the whole remains a mystery, scientists hope to find some answers in the ways that the condition affects different populations. In the United States, lupus has a much higher prevalence in non-white populations. In fact, lupus is the 5th leading cause of death for black women ages 15-24.

Ancestry can dramatically impact disease genetics, so understanding why the disease affects populations differently could go a long way toward telling us what genetic factors play a part in developing the condition.

In the case of lupus, the body's immune B cells function distinctive epigenetic signatures of the disease are found in B cells, which are part of the immune system. The analysis performed by the Absher Lab revealed lupus-specific differences in methylation throughout B cell development between black and white women.

Methylation changes can alter the degree to which a stretch of DNA functions without changing the genetic code itself. This research shows the most significant changes in methylation occur around genes related to Interferons, which are proteins that regulate immune response.

These differences in B cell development could help explain the more severe symptoms and earlier age of onset for lupus in black women.

"What we found," explains Devin Absher, PhD, "was that there are a number of methylation changes we can link to lupus. When you isolate them, you see that the changes are far greater in black women. The population differences could be key to a more complete understanding of the disease on the whole."

Gaps in Understanding

The genetic gap between these two groups of patients with lupus illustrates a broader gap in knowledge. One key limitation of genetics stems from a lack of diverse data, which hurts all populations.

Disease genetics frequently relies on genome-wide association studies (GWAS) to link genes with various health conditions. However the most recent aggregations of GWAS show nearly 88% of participants come from European ancestry. These eurocentric results can make it harder to identify genetic components of diseases that disproportionately affect underrepresented populations.

A lack of diversity in genetic research slows progress across the board. The unique genetic factories of all kinds of ancestry can help us better understand the human genome and even find potential ways to share the benefits of natural resistance. For example, Americans of African descent were found to have mutations on their PCSK9 genes which led to lower levels of cholesterol in their bloodstream. With that information, researchers developed PCSK9 inhibitors to lower cholesterol and heart disease risk across ancestries.

This lupus research from the Devin Absher Lab further illustrates the importance of understanding racial diversity when examining genetic components for diseases.

Absher is involved in a number of efforts to drive greater diversity in genetic research, including the Alabama Genomic Health Initiative, which aims to bring the value of genetic sequencing to diverse populations across the state.

The Way Forward

This lupus research helps open the door for future exploration of methylation around Interferon sites as it relates to the disease. However, the finding is only possible because of an active consideration of the value of diversity in genetic research. HudsonAlpha remains dedicated to bringing the value of genomics to all, as a diverse approach to research opens doors that would otherwise remain closed.

2018 NatureWorldNews.com All rights reserved. Do not reproduce without permission.

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Discovery Leads to Schizophrenia Biomarker and New Insights on Cause and Treatment – SciTechDaily

Monday, October 28th, 2019

MPST gene expression (which leads to hydrogen sulphide production) was higher in postmortem brains from people with schizophrenia than in those from unaffected people. MPST protein levels in these brains also correlated well with the severity of premortem symptoms. Credit: RIKEN

Working with model mice, post-mortem human brains, and people with schizophrenia, researchers at the RIKEN Center for Brain Science in Japan have discovered that a subtype of schizophrenia is related to abnormally high levels hydrogen sulfide in the brain. Experiments showed that this abnormality likely results from a DNA-modifying reaction during development that lasts throughout life. In addition to providing a new direction for research into drug therapies, higher than normal levels of the hydrogen sulfide-producing enzyme can act as a biomarker for this type of schizophrenia.

Diagnosing disorders of thought is easier when a reliable and objective marker can be found. In the case of schizophrenia, we have known for more than 30 years that it is associated with an abnormal startle response. Normally, we are not startled as much by a burst of noise if a smaller burstcalled a prepulsecomes a little bit earlier. This phenomenon is called prepulse inhibition (PPI) because the early pulse inhibits the startle response. In people with schizophrenia, PPI is lowed, meaning that their startle response is not dampened as much as it should be after the prepulse.

The PPI test is a good behavioral marker, and although it cannot directly help us understand the biology behind schizophrenia, it was the starting point that led to current discoveries.

The researchers at RIKEN CBS began first looked for differences in protein expression between strains of mice that exhibit extremely low or extremely high PPI. Ultimately, they found that the enzyme Mpst was expressed much more in the brains of the mouse strain with low PPI than in the strain with high PPI. Knowing that this enzyme helps produce hydrogen sulfide, the team then measured hydrogen sulfide levels and found that they were higher in the low-PPI mice.

Nobody has ever thought about a causal link between hydrogen sulfide and schizophrenia, says team leader Takeo Toshikawa. Once we discovered this, we had to figure out how it happens and if these findings in mice would hold true for people with schizophrenia.

First, to be sure that Mpst was the culprit, the researchers created an Mpst knockout version of the low-PPI mice and showed that their PPI was higher than that in regular low-PPI mice. Thus, reducing the amount of Mpst helped the mice become more normal. Next, they found that MPST gene expression was indeed higher in postmortem brains from people with schizophrenia than in those from unaffected people. MPST protein levels in these brains also correlated well with the severity of premortem symptoms.

Now the team had enough information to look at MPST expression as a biomarker for schizophrenia. They examined hair follicles from more than 150 people with schizophrenia and found that expression of MPST mRNA was much higher than people without schizophrenia. Even though the results were not perfectindicating that sulfide stress does not account for all cases of schizophreniaMPST levels in hair could be a good biomarker for schizophrenia before other symptoms appear.

Whether a person develops schizophrenia is related to both their genetics and the environment. Testing in mice and postmortem brains indicated that high MPST levels were associated with changes in DNA that lead to permanently altered gene expression. So, the next step was for the team to search for environmental factors that could result in permanently increased MPST production.

Because hydrogen sulfide can actually protect against inflammatory stress, the group hypothesized that inflammatory stress during early development might be the root cause. We found that anti-oxidative markersincluding the production of hydrogen sulfidethat compensate against oxidative stress and neuroinflammation during brain development were correlated with MPST levels in the brains of people with schizophrenia, says Yoshikawa.

He proposes that once excess hydrogen sulfide production is primed, it persists throughout life due to permanent epigenetic changes to DNA, leading to sulfide stress induced schizophrenia.

Current treatments for schizophrenia focus on the dopamine and serotonin system in the brain. Because these drugs are not very effective and have side effects, Yoshikawa says that pharmaceutical companies have abandoned the development of new drugs. A new paradigm is needed for the development of novel drugs, he explains. Currently, about 30% of patients with schizophrenia are resistant to dopamine D2-receptor antagonist therapy. Our results provide a new principle or paradigm for designing drugs, and we are currently testing whether inhibiting the synthesis of hydrogen sulfide can alleviate symptoms in mouse models of schizophrenia.

###

This study was published in the journal EMBO Molecular Medicine today, October 28, 2019.

Reference: Excess hydrogen sulfide and polysulfides production underlies a schizophrenia pathophysiology by Masayuki Ide, Tetsuo Ohnishi, Manabu Toyoshima, Shabeesh Balan, Motoko Maekawa, Chie Shimamoto-Mitsuyama, Yoshimi Iwayama, Hisako Ohba, Akiko Watanabe, Takashi Ishii, Norihiro Shibuya, Yuka Kimura, Yasuko Hisano, Yui Murata, Tomonori Hara, Momo Morikawa, Kenji Hashimoto, Yayoi Nozaki, Tomoko Toyota, Yuina Wada, Yosuke Tanaka, Tadafumi Kato, Akinori Nishi, Shigeyoshi Fujisawa, Hideyuki Okano, Masanari Itokawa, Nobutaka Hirokawa, Yasuto Kunii, Akiyoshi Kakita, Hirooki Yabe, Kazuya Iwamoto, Kohji Meno, Takuya Katagiri, Brian Dean, Kazuhiko Uchida, Hideo Kimura and Takeo Yoshikawa, 28 October 2019, EMBO Molecular Medicine.DOI: 10.15252/emmm.201910695

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Researchers find new organelle that may help cancer patients – CBS19 News

Monday, October 28th, 2019

CHARLOTTESVILLE, Va. (CBS19 NEWS) -- Scientists looking for a way to help breast cancer patients have found a new organelle inside cells that may help.

Researchers at the University of Virginia School of Medicine say the organelle works to prevent cancer by ensuring that genetic material is sorted correctly as cells divide and problems with this organelle have been connected to a subset of breast cancer tumors due to a lot of mistakes when segregating chromosomes.

According to a release, this analysis offers a new way for doctors to sort patient tumors as they choose the therapies that may be used to treat the patients.

The researchers hope these insights will help doctors to better personalize treatments to best benefit patients, potentially sparing up to 40 percent of breast cancer patients from treatment that will not be effective.

Some percentage of women get chemotherapy drugs for breast cancer that are not very effective. They are poisoned, in pain and their hair falls out, so if it isn't curing their disease, then that's tragic, said researcher P. Todd Stukenberg, PhD, of the UVA Department of Biochemistry and Molecular Genetics. One of our goals is to develop new tests to determine whether a patient will respond to a chemotherapeutic treatment, so they can find an effective treatment right away.

Stukenberg and his team of researchers ay the organelle they found is essential but ephemeral, as it only forms when needed to ensure chromosomes are sorted correctly. It then disappears when that task is complete.

Stukenberg also compares the organelle to a droplet of liquid that condenses within other liquid, saying the droplets act like mixing bowls that concentrate certain cellular ingredients to allow for biochemical reactions to occur in a specific location.

What's exciting is that cells have this new organelle and certain things will be recruited into it and other things will be excluded, he said. The cells enrich things inside the droplet and, all of a sudden, new biochemical reactions appear only in that location. It's amazing.

He says the organelle acts more like a gel that allows cellular components to come in and exit but it has binding sites that concentrate a small set of the cell's contents.

Our data suggests this concentration of proteins is really important, said Stukenberg. I can get complex biochemical reactions to occur inside a droplet that I've been failing to reconstitute in a test tube for years. This is the secret sauce I've been missing.

The release adds that researchers have known for about eight years that cells make droplets like this for other processes, but they did not know they are made on chromosomes during cell division.

Stukenberg thinks such droplets are common and more important than previously understood, saying the cells are using these non-membranous organelles to regulate much of their work.

The release says this discovery helps scientists better understand the process of mitosis, or cell division, and it sheds light on cancer and how it occurs.

The organelle's main function is to fix mistakes in tiny microtubules that pull apart chromosomes when cells are dividing. They ensure that each cell gets the correct genetic material.

However, in cancer cells, the repair process is defective, and the cancer cells can be driven to be more aggressive.

Stukenberg has also developed tests to measure the amount of chromosome mis-segregation in tumors, which he hopes will allow doctors to pick the proper treatment for patients.

His next step he says will be to examine the strange organelle's role in colorectal cancer.

The findings have been described in the scientific journal Nature Cell Biology.

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Student group works to foster diversity in the sciences – UChicago News

Monday, October 28th, 2019

When Christian Porras came to the University of Chicago three years ago, he knew he had a passion for science. What was less apparent to him was how to chart a path from first-year student to research scientist.

As a first-generation college student from a low-income household, Porras didnt know anyone who had taken a similar path. That changed when he connected with the UChicago chapter of the Society for Advancement of Chicanos/Hispanics and Native Americans in Science.

SACNAS became this community, this family for me. It removed some of the uncertainties about my professional goals because I was able to talk to people who were further down the path, Porras said. Now a fourth-year majoring in biological sciences, Porras is undergraduate president of the campus chapter.

This month, SACNAS named the UChicago group chapter of the year for demonstrating significant accomplishments and activities across five areasrecruitment and membership retention, professional development, community outreach, chapter development and fundraising.

One reason for the honor was a regional conference that the leadership team of the UChicago chapter planned earlier this year. They oversaw the 2019 Midwest Regional SACNAS Conference, which brought more than 200 students from the Midwest and around the United States to UChicago for a day of research presentations and professional development.

With the theme Empowering through Boundaries, the conference focused on inclusion and helping students overcome the challenge of breaking through career obstacles. Workshops covered a range of topicsfrom crafting compelling academic applications to including disabilities in discussions about diversity.

This award is an acknowledgement and appreciation of all the hard work that our chapter has put in, not just this year, but over the course of its history at UChicago, said Juan Manuel Vazquez, graduate president of the organization and a fifth-year PhD student in the Department of Human Genetics. He served as chair and lead for the 2019 Midwest conference.

The UChicago chapter of SACNAS was formed in 2016 and became a registered student organization in 2018. The organization has about 50 members, however, its events are open to all students and draw people from different backgrounds and disciplines. Lucia Rothman Denes, the A. J. Carlson Professor in the Department of Molecular Genetics, serves as its faculty adviser.

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ERT to Treat Pompe May Work Better in Combo with Blood Pressure Medication, Study Says – Pompe Disease News

Monday, October 28th, 2019

Adding carvedilol, the active compound of a blood pressuremedicine, to enzyme replacement therapy (ERT) for Pompe disease can improve its effectiveness in reaching and strengthening skeletal muscles, a study in mice suggests.

This finding, Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease was published in Molecular Genetics and Metabolism.

At present, enzyme replacement therapy (ERT) is the only effective treatment for Pompe disease, a rare genetic disorder caused by the absence or deficiency of the acid alpha-glucosidase (GAA) enzyme.

When GAA activity is low, a sugar molecule called glycogen accumulates inside cells, damaging organs and tissues throughout the body, but primarily skeletal muscle, smooth muscle, and cardiac muscle. If left untreated, the accumulation of glycogen in cardiac and skeletal muscle leads to severe and progressive muscular weakness, risking heart and respiratory failure.

There is, however, a major limitation in ERT. Skeletal muscle is less accessible to it, meaning the therapy has trouble getting into this type of muscle cell. Skeletal muscles poor response to ERT has been attributed to a serious lack of a protein receptor called cation-independent mannose-6-phosphate receptor (CI-MPR) on its cells.

Animal studies suggest that an active compound common to blood pressure medications (with work to control hypertension) could increase the uptake of ERT by muscle cells, by increasing the amount of muscle (muscle hypertrophy), and therefore the amount of CI-MPR.

Investigators atDuke Universityevaluated the effects of ERT with and without three anti-hypertensive agents: carvedilol, losartan, and propranolol. All these compounds have different ways of working, or mechanisms of action, in the body. They experimented using a mouse model of Pompe disease called the GAA knockout (absent) mouse.

Animals were assigned to one of seven groups: no treatment, ERT alone, ERT with carvedilol, ERT with losartan, ERT with propranolol, or to only losartan or carvedilol. Drugs were given to the mice in drinking water, and one week after treatment initiation, recombinant human GAA was given by injection every week for a month. Five days following the last GAA injection, scientists examined the animals cardiac and muscle function.

The team reported that carvedilol uniquely increased muscle strength, while losartan uniquely decreased heart rate. GAA activity was also found to be significantly higher in the heart following either losartan or propranolol being added to enzyme replacement therapy, compared to mice left untreated as a control group.

Both carvedilol or propranolol significantly increased GAA activity in the animals quadriceps, the muscles in the front of the thigh, compared to control mice. However, only carvedilol administration significantly increased GAA activity in quadriceps, in comparison with ERT alone, the scientists wrote.

These findings indicate that the greatest rise in enzymatic activity occurred in response to carvedilol, the active substance in the blood pressure medication Coreg. Carvedilol is a beta-blocker that relaxes the smooth muscle that makes up blood vessels, leading to an overall reduction in blood pressure.

Because more than half (seven of 13) of the mice given losartan, either alone or in combination with ERT, died during the study, researchers thought this active molecule potentially toxic in Pompe, and suggested physicians should be mindful of it when prescribing high blood pressure medications to Pompe patients.

Currently we demonstrated unique toxicity from the administration of losartan in mice with Pompe disease, the researchers wrote.

Because of the benefits seen in diseased micegiven carvedilol during ERT, they recommended the compound be studied in a clinical trial in patients.

Carvedilol was well-tolerated, and the ability to use a -blocker [beta-blocker] in patients that will not interfere with ERT would be highly valuable for clinical use in patients with Pompe since they often require a -blocker to mitigate disease-associated hypertension, the investigators concluded.

A clinical trial of carvedilol in patients with Pompe disease should be considered to further evaluate its usefulness.

With over three years of experience in the medical communications business, Catarina holds a BSc. in Biomedical Sciences and a MSc. in Neurosciences. Apart from writing, she has been involved in patient-oriented translational and clinical research.

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Margarida graduated with a BS in Health Sciences from the University of Lisbon and a MSc in Biotechnology from Instituto Superior Tcnico (IST-UL). She worked as a molecular biologist research associate at a Cambridge UK-based biotech company that discovers and develops therapeutic, fully human monoclonal antibodies.

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An ongoing conversation on diversity in science – Varsity

Monday, October 28th, 2019

COURTESY OF SARAH PALMER/THE GAIRDNER FOUNDATION

The Gairdner/LOral-UNESCO Forum on Diversity and Excellence in Science took place at the MaRS Centre on September 30.

The conference was hosted in part by the Gairdner Foundation, which aims to recognize international excellence in fundamental research that impacts human health.

Many groups are underrepresented in research, including women, ethnic minorities, people with disabilities, Indigenous people, and socially disadvantaged populations, said Dr. Janet Rossant, a professor at U of Ts Departments of Molecular Genetics and Obstetrics & Gynaecology, in an interview with The Varsity. Rossant is also the president and scientific director of the Gairdner Foundation, and chief of research emeritus at the SickKids Research Institute.

This is an ongoing conversation and ongoing discussion that we have to have across many aspects of our lives today.

Stories from the front line

A panel discussion named Diversity in STEMM- Stories from the Frontline included Dr. Eugenia Duodu, Dr. Quarraisha Abdool Karim, and Dr. Janet Smylie, and was moderated by Dr. Imogen Coe.

We need to be having those conversations about those kinds of uncomfortable things in order to move forward, said Coe, a professor at Ryerson Universitys Faculty of Science, and an advocate for equity in STEM.

Smylie is a professor at U of Ts Dalla Lana School of Public Health, and also serves as the director of the Well Living House, which focuses on bettering health outcomes for Indigenous children and families.

Her talk focused on the importance of a balance of power, specifically highlighting the importance of finding an individual balance in ones life.

Duodu received her PhD in chemistry from U of T and is the chief executive officer of Visions of Science, a charitable organization which uses STEM as a way to empower youth from low-income areas in Toronto.

She spoke about a time where she was not invited to a competition that her colleagues were invited to. It was really interesting that there was this kind of assumption that this is not something that I would [want to] be a part of, she said.

Karim is the associate scientific director of the Centre for the AIDS Programme of Research in South Africa, a research centre focused on studying HIV. She is also a professor of epidemiology at the Columbia University Medical Centre.

She discussed how her activism work tied into the medical work she was doing. That anti-apartheid activism era in my life gave me an opportunity to respect all forms of knowledge, she said.

She further elaborated that it enabled her to understand, even in communities where literacy levels are low and people may not have degrees, [that] they have important knowledge that could be tapped into.

Afternoon STEM talks

The afternoon session included eight talks about STEM topics with LOral-UNESCO scientists Dr. Eugenia Kumacheva, Dr. Vanessa DCosta, Dr. Janet Rossant, Dr. Nausheen Sadiq, Dr. Victoria Arbour, Dr. Molly Shoichet, Dr. Kate (Hyun) Lee, and Karim.

The concept of arsenic in rice was discussed in Sadiqs talk, who is a research chemist at Brooks Applied Labs and a LOral-UNESCO for Women in Science fellow. The reasoning behind this, Sadiq said, is that in Canada, there is no set limit for arsenic in food.

A focus of Sadiqs PhD research was on arsenic levels in rice. A type of rice she looked at was rice cereal, which is often eaten by babies, which has relatively high amounts of arsenic.

If you take [one thing] away from today, from me speaking, said Sadiq jokingly, its please wash your rice.

Tags: Diversity, Science, STEM

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PTC Therapeutics Announces Results from Long-Term AADC Deficiency Gene Therapy Treatment Demonstrating Sustained Improvements – P&T Community

Monday, October 28th, 2019

SOUTH PLAINFIELD, N.J., Oct. 24, 2019 /PRNewswire/ --PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced new results from its investigational gene therapy, PTC-AADC, in patients living with aromatic L-amino acid decarboxylase (AADC) deficiency. The datademonstrated clinically meaningful and sustained improvements in motor, cognitive and language milestones. These included the ability to sit, walk, and talk and represents up to five years of follow up post-treatment.1,2 PTC-AADC is a one-time gene therapy treatment of the human dopa decarboxylase (DDC) gene administered into the putamen, which supports production of key neurotransmitters. The data were presented at the Child Neurology Society 48th Annual Meeting.

"We are excited to see the transformational effects in AADC deficiency patients in this long-term study as patients with severe AADC deficiency never achieve the ability to sit, walk or talk," said Stuart Peltz, Ph.D., Chief Executive Officer of PTC Therapeutics. "We are on track to submit a BLA to the FDA by the end of the year and are proud to be on the verge of bringing the first commercial treatment for AADC deficiency patients which is in line with our mission of bringing clinically differentiated treatments to patients with rare disorders."

New analysis evaluated outcomes of 26 patients with AADC deficiency across three separate clinical trials,2 making it the most comprehensive analysis of patients treated with PTC-AADC to date. Specifically, these results showed that 12 months post-treatment with PTC-AADC, patients' mean body weight had increased from 12.0 kg to 15.2 kg, and the frequency of oculogyric crises (involuntary upward eye movement) was reduced.2 Dyskinesia (involuntary movements) was the most frequently recorded adverse event, however most events were mild or moderate and all cases resolved by 10 months post-treatment.2

"In addition to failing to reach key developmental milestones, such as walking and talking, children with AADC deficiency can experience severe symptoms that affect their everyday lives. These symptoms can include episodes of oculogyric crises, which can last for minutes or hours and involve sustained upward movement of the eyes, involuntary movements of the neck, tongue protrusions and jaw spasms, which can be very distressing for patients and their families," said Claudio Santos, M.D., Senior Vice President, Global Medical Affairs, PTC Therapeutics. "The post-treatment data presented at CNS confirm reductions in the number of patients experiencing oculogyric crises, suggesting that this gene therapy treatment has the potential to make a real difference in the lives of patients with AADC deficiency."

A separate analysis of a long-term study demonstrated the sustained efficacy of PTC-AADC up to five years.1 These are the longest data available for any investigational treatment for AADC deficiency. These results showed clinically meaningful and sustained improvements in motor, cognitive and language milestones up to five years post-treatment with PTC-AADC.1

An additional abstract building on the existing understanding of AADC deficiency was also presented, giving a disease state overview that highlights the potential importance of a gene therapy to treat this condition.3

About aromatic L-amino acid decarboxylase (AADC) deficiencyAromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic condition caused by a mutation in the dopa decarboxylase (DDC) gene, resulting in a lack of functioning AADC enzyme, which is responsible for the final step in the synthesis of key neurotransmitters dopamine and serotonin.4

AADC deficiency results in delays or failure to reach developmental milestones such as head control, sitting, standing, walking, or talking, low muscle tone (also known as muscular hypotonia), severe, seizure-like episodes involving involuntary eye movement (also known as oculogyric crises), autonomic abnormalities, and the need for life-long care.4 Given this neurologically devastating illness, patients with severe AADC deficiency have a high risk of death during childhood. There are currently no approved therapies that address the underlying cause.

About PTC Therapeutics, Inc.PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically-differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to globally commercialize products is the foundation that drives investment in a robust pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need. To learn more about PTC, please visit us onwww.ptcbio.comand follow us onFacebook, on Twitter at @PTCBio, and on LinkedIn.

For More Information:

Investors:Emily Hill+ 1 (908) 912-9327ehill@ptcbio.com

Media: Jane Baj+1 (908) 912-9167 jbaj@ptcbio.com

References:

Forward-LookingStatements:This press release contains forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. All statements contained in this release, other than statements of historic fact, are forward-looking statements, including statements regarding: the future expectations, plans and prospects for PTC; expectations with respect to PTC's gene therapy platform, including any potential regulatory submissions; PTC's strategy, future operations, future financial position, future revenues, projected costs; and the objectives of management. Other forward-looking statements may be identified by the words "guidance", "plan," "anticipate," "believe," "estimate," "expect," "intend," "may," "target," "potential," "will," "would," "could," "should," "continue," and similar expressions.

PTC's actual results, performance or achievements could differ materially from those expressed or implied by forward-looking statements it makes as a result of a variety of risks and uncertainties, including those related to: expectations with respect to the potential financial impact or PTC's ability to realize the anticipated benefits of the acquisition of Agilis and its gene therapy platform, including with respect to the business of Agilis and expectations with respect to the potential achievement of development, regulatory and sales milestones and contingent payments to the former Agilis equityholders with respect thereto and PTC's ability to obtain marketing approval of PTC-AADC and other product candidates acquired from Agilis, will not be realized or will not be realized within the expected time period; significant transaction costs, unknown liabilities, the risk of litigation and/or regulatory actions related to the acquisition of its gene therapy pipeline, as well as other business effects, including the effects of industry, market, economic, political or regulatory conditions; the eligible patient base and commercial potential of PTC-AADC; and the factors discussed in the "Risk Factors" section of PTC's most recent Annual Report on Form 10-K, as well as any updates to these risk factors filed from time to time in PTC's other filings with the SEC. You are urged to carefully consider all such factors.

As with any pharmaceutical under development, there are significant risks in the development, regulatory approval and commercialization of new products. There are no guarantees that any product will receive or maintain regulatory approval in any territory, or prove to be commercially successful, including PTC-AADC.

The forward-looking statements contained herein represent PTC's views only as of the date of this press release and PTC does not undertake or plan to update or revise any such forward-looking statements to reflect actual results or changes in plans, prospects, assumptions, estimates or projections, or other circumstances occurring after the date of this press release except as required by law.

View original content:http://www.prnewswire.com/news-releases/ptc-therapeutics-announces-results-from-long-term-aadc-deficiency-gene-therapy-treatment-demonstrating-sustained-improvements-300944629.html

SOURCE PTC Therapeutics, Inc.

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Adult Day Industry Trending Toward For-Profit Status, 2020 Boom – Home Health Care News

Monday, October 28th, 2019

Prior to 2014, there were only a few thousand adult day centers operating throughout the United States. Today, there are likely over 10,000 centers in existence, each one trying to make a lasting mark in an extremely fragmented industry.

Founded in 1991, Tennessee-based Centennial Adultcare Center is among that group. The medical-model adult day provider is led by CEO William Zagorski, who says big things are in store for the space in months and years to come.

Home Health Care News recently caught up with Zagorski during the latest installment of its podcast, Disrupt.

Among topics of conversation, the CEO outlined industry challenges and explained how at-home care providers will play a critical role in adult days future. Zagorski a member of the National Adult Day Services Associations board of directors also discussed how the adult day model is becoming increasingly for-profit.

Highlights from HHCNs conversation with Zagorski are below, edited for length and clarity. Subscribe to Disrupt via Apple Podcasts, Google Play Music, SoundCloud or your favorite podcast app.

Zagorski: American Senior Care Centers is our corporate name. We operate as Centennial Adultcare Center. We have three medical-model adult day health care facilities in the central Tennessee area. We also operate non-medical in-home care services and transportation services, all of which are under our Centennial Adultcare Center brand.

But that medical model of adult day is our primary focus. We serve Individuals 18 and over of all acuity ranges. That means all diagnoses, all physical and cognitive conditions. There are very few individuals who we have not been able to help over the years.

Were the largest comprehensive, medical-model adult day health care facility in Tennessee.

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Happy to be the first! Adult day health care is certainly a newer, lesser-known part of the continuum of care, so Im happy to talk about it.

Its a long story that takes lots of meandering paths.

My parents started our company back in 1991. One of the main inspiring factors was a grandmother who had been diagnosed with Alzheimers, who then moved from Chicago to Nashville to live with us.

She attended a social-model adult day program in Nashville for a number of years. But as soon as her acuity rose to where she could no longer attend the social programs, there was nowhere for her to go. So we set up shop as the first medical-model adult day health care provider in Tennessee. We were one of the only providers able to assist individuals with advanced dementia, you know, progressing to the point of wandering, incontinence and other issues.

Thats the genesis of our company. I was younger when that company opened and did not plan on staying in Tennessee. My personal history is mired in scientific research; I spent a number of years in cancer research, then in molecular genetics as my primary academic research through the late 90s and early 2000s.

I came back to our company in 2011. Weve increased our daily attendance by double since. I opened our second location in 2015. And then our third location in late 2017.

Our in-home care agency has been in progress for a number of years as well, though theres been some growth and retraction.

Adult day mirrors the same growth trends that were seeing in home health and home care. The driving factor is individuals want to remain living at home.

Historically, adult day has existed throughout the United States for decades. It took off in the late 70s and 80s, mostly on the East Coast and West Coast. It has been a little bit slower to grow through the Midwest and even slower in the South.

But it continues to grow overall, ramping up over the past five years. In fact, today, there are probably close to 10,000 adult day centers in the U.S., which is up almost 50% from 2014.

One of the factors inhibiting growth is the fact theres no federal model or federal definition of what adult day care is. Its regulated differently from state to state, with some states being more permissive for social-model or medical-model services.

As of 2016, slightly over 50% of the adult day centers throughout the country are in the for-profit space as opposed to the nonprofit world. Thats been a big switch compared to the past.

There has also been a divergence between the social model of adult day services and the medical model. There has been a social stigma around this industry, so we try to be consistent with terms for what different players are doing. The common nomenclature is to use adult day services for the social model, then adult day health care for the medical model.

Yeah. Very much so. I mean, the different regulation from state to state is so significant. Just look at the state-to-state variation on licensure and certification. There are a dozen or so states that still have no type of licensure status. Theres still a few where its like the Wild West. Of course, there are also Medicaid issues. There are lower reimbursement states or the Medicaid-prohibitive states, usually in the Deep South or in lower-income, lower-population areas in the North.

And when it comes to access to care, since adult day is a lesser-known model and varies from place to place, nobody really knows what adult day really is. They dont know whether its adult day services or adult day health care, whether adult day is part of the continuum of care or separate.

Theres a lot of confusion and lack of knowledge.

It certainly can be a profitable space. And I think thats really reflected by the for-profit side of the industry doubling in recent years. But its hard to define what the margins are because reimbursement models differ so much. And theres a lot of providers that only operate in a Medicaid space. Theres some providers that only operate in a private-pay space. Some people work with the VA.

Weve been a for-profit company for the better part of 30 years, and its been profitable over that time for sure, but it varies. The fact is that youre in a conglomerate setting where your staffing levels are slightly lower, so youre able to do things that are slightly lower in terms of expense rate.

Its difficult to answer on the margins. A ballpark answer, you know, theyre somewhere, probably between 1% and 40%.

Were able to staff at a slightly lower level than the one-on-one care thats needed for home care.

In the adult day setting, most states are in the six-to-one or eight-to-one suggested or mandatory ratios. Most organizations run in the four-to-one or six-to-one ratios. Another advantage is service availability, being able to provide services without interruption. Centers can be staffed with three to six employees at any given time.

Cost is certainly a competitive advantage. The average cost of adult day is $72 a day and thats usually for six to 10 hours of care. In Tennessee, most of the companies we work with are open for eight to 11 hours per day. Some of them are even open on weekends. So being able to provide services for 10 hours at $72 a day is certainly a competitive advantage.

Medical oversight in the adult day health care industry is continuing to progress, and most centers have registered nurses on staff to provide ongoing medical oversight as well as medication assistance and management of vitals.

Many centers are truly interdisciplinary, with masters-level social workers, registered dietitians, RNs, LPNs, recreational therapists. Many programs bring in pet therapist, music therapist, art therapist so the ability to provide comprehensive therapeutic services in a conglomerate setting provide some unique advantages and a social situation. Not to mention the social determinants of health were avoiding avoiding geriatric depression and combating loneliness.

Adult day health care is great, but it cant do it all. Centers cant be open all the time. They cant do everything. It is essential for individual providers or larger companies to be able to associate with home-based care providers and wraparound services, including transportation.

If you take in-home services, transportation services, adult day health care and everything else, you put it all together, its still so much less expensive than most assisted living or skilled nursing facilities.

I think theres significant, increasing interest. But from an M&A standpoint, adult day does have those real challenges I talked about. Additionally, the largest provider of adult day services has about 112 locations throughout the U.S. and thats less than 1% of market share. So that fragmentation is a downside for those looking for a large investment opportunity. Still, that means the industry is ripe for consolidation.

Many adult day centers throughout the United States are still in the first round of ownership and are privately owned probably family-owned. Many of us are aging and looking for exits.

There are lots of plans. Weve grown slowly over time and have opened two additional centers in the last four years. We plan to continue growing when opportunities present themselves. Theres room for expansion in Tennessee. Theres only about 40 providers throughout the entire state, and theres room for about double that.

Ive also had the pleasure of working as the president of the Tennessee Association of Adult Day Services, as well as working with the National Adult Day Services Association, where we have pretty significant policy efforts.

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