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Are Options Traders Betting on a Big Move in Tandem Diabetes (TNDM) Stock? – Yahoo Finance

Posted: February 14, 2020 at 5:46 pm

Investors in Tandem Diabetes Care, Inc. TNDM need to pay close attention to the stock based on moves in the options market lately. That is because the Mar 20, 2020 $60 Put had some of the highest implied volatility of all equity options today.

What is Implied Volatility?

Implied volatility shows how much movement the market is expecting in the future. Options with high levels of implied volatility suggest that investors in the underlying stocks are expecting a big move in one direction or the other. It could also mean there is an event coming up soon that may cause a big rally or a huge sell-off. However, implied volatility is only one piece of the puzzle when putting together an options trading strategy.

What do the Analysts Think?

Clearly, options traders are pricing in a big move for Tandem Diabetes shares, but what is the fundamental picture for the company? Currently, Tandem Diabetes is a Zacks Rank #2 (Buy) in the Medical Instruments industry that ranks in the Top 43% of our Zacks Industry Rank. Over the last 60 days, no analysts have increased their earnings estimates for the current quarter, while one analyst has revised the estimate downward. The net effect has taken our Zacks Consensus Estimate for the current quarter from a loss of 8 cents per share to a loss of 7 cents in that period.

Given the way analysts feel about Tandem Diabetes right now, this huge implied volatility could mean theres a trade developing. Oftentimes, options traders look for options with high levels of implied volatility to sell premium. This is a strategy many seasoned traders use because it captures decay. At expiration, the hope for these traders is that the underlying stock does not move as much as originally expected.

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Genprex sees newly licensed diabetes gene therapy as an "opportunity we couldn"t pass up" – Proactive Investors USA & Canada

Posted: February 14, 2020 at 5:46 pm

Genprex Inc () CEO Rodney Varner tells Proactive the Texas-based biotech has signed a licensing agreement with the University of Pittsburgh for a diabetes gene therapy that could have the potential to treat Type 1 and Type 2 diabetes.

Varner says the newly licensed diabetes gene therapy was an 'opportunity we couldn't pass up' because of its large market opportunity and 'massive' medical need.

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Genprex sees newly licensed diabetes gene therapy as an "opportunity we couldn"t pass up" - Proactive Investors USA & Canada

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Effect of Diabetes on the Performance of Algorithms for the Detection of AMI Without ST-Elevation – Endocrinology Advisor

Posted: February 14, 2020 at 5:46 pm

The performance of the European Society of Cardiology (ESC) algorithm, ESC 0/1-h, in ruling out acute myocardial infarction (AMI) without ST-elevation was comparable in patients with and without diabetes mellitus (DM), according to a study published in Diabetes Care.

The ESC 0/1-h and 0/3-h algorithms are used to diagnose patients with suspected acute non-ST-elevation myocardial infarction (NSTEMI). The levels of high-sensitivity cardiac troponin (hs-cTn) are often chronically elevated in individuals with DM, rendering it difficult to identify NSTEMI in this patient population. Investigators sought to assess whether the presence of DM affects the diagnostic abilities of 2 ESC algorithms in patients presenting to the emergency department with symptoms indicative of AMI.

In this secondary analysis of 2 studies, the Biomarkers in Acute Cardiac Care (BACC) and stenoCardia trials (ClinicalTrials.gov identifiers NCT02355457 and NCT03227159, respectively), 3,681 patients (mean age, 64.0 years; 64.2% men) with prospectively evaluated suspected acute NSTEMI with (n=563) and without DM, were enrolled. Data from the Advantageous Predictors of Acute Coronary Syndromes study (APACE; n=2895; ClinicalTrials.gov identifier NCT00470587) were used to calculate and externally validate alternative cutoffs for the algorithms.

The levels of hs-cTn were measured at admission, 1 hour (only in the BACC study), and 3 hours (in both studies). Negative and positive predictive values (NPV and PPV, respectively) for NSTEMI were calculated for both algorithms. The studys primary safety outcome was the NPV for NSTEMI (ie, for ruling out the condition), and the primary efficacy outcome was the PPV for ruling in NSTEMI. The sensitivity and specificity of both algorithms were the studys secondary endpoints.

Of 563 participants with DM, 137 (24.3%) had comorbid acute NSTEMI, compared with 15.9% of patients without DM (P <.001). Participants with DM were older and had more cardiovascular risk factors and comorbidities.

The ESC 0/1-h algorithm had a comparable NPV for NSTEMI in patients with and without DM (absolute difference [AD], -1.50; 95% CI, -5.95 to 2.96; P =.54), but the ESC 0/3-h algorithm had a lower NPV in patients with vs without DM (AD, -2.27; 95% CI, -4.47 to -0.07; P =.004). The diagnostic performance to rule-in NSTEMI was comparable for patients with vs without DM with both algorithms: ESC 0/1-h (AD, -6.59; 95% CI, -19.53 to 6.35; P =.34) and ESC 0/3-h (AD, 1.03; 95% CI, -7.63 to 9.7; P =.88).

The sensitivity for ruling out NSTEMI was comparable in patients with vs without DM with both ESC0/1-h (AD, -0.9; 95% CI, -5.1 to 3.3; P =1.00) and ESC 0/3-h (AD, -4.0; 95% CI, -10.4 to 2.4; P =.19) algorithms. The specificity for ruling in NSTEMI was higher for patients without vs with DM when using both the ESC 0/1-h (AD, -6.9; 95% CI -12.5 to -1.2; P =.0035) and ESC 0/3-h (AD, -4.4; 95% CI, -8.2 to 0.6; P =.01) algorithms. The use of alternative cutoffs improved the PPV of both algorithms.

Study strengths include large sample sizes and external validation of proposed alternative cutoffs. Study limitations include the sole use of data from the BACC study to evaluate the 0/1-h algorithm, possible misclassification of AMI and DM, and a lack of accounting for disease duration.

Although alternative cutoffs might be helpful, patients with DM remain a high-risk population in whom identification of AMI is challenging and who require careful clinical evaluation, noted the authors.

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Reference

Haller PM, Boeddinghaus J, Neumann JT, et al. Performance of the ESC 0/1-h and 0/3-h algorithm for the rapid identification of myocardial infarction without ST-elevation in patients with diabetes. Diabetes Care. 2019;43(2):460-467. doi: 10.2337/dc19-1327

This article originally appeared on The Cardiology Advisor

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DNA Study Revealed That Humans Are Genetically Programmed To Live Only 38 Years – Webby Feed

Posted: February 14, 2020 at 5:45 pm

Benjamin Mayne is a molecular biologist and bioinformatician with expertise in epigenetics and next-generation sequencing. His PhD. research revealed regulation of gene expression and association with aging due to DNA methylation, an epigenetic modification.

Until now, the lifespan of both humans and animals could only be estimated by observation. No scientific data was proof for the fact that the bowhead whales lifespan is 211 years. This research proves that the accurate estimate is 57 years higher than the previous assumption. It was the worlds longest-lived animal.

The study, therefore, can help estimate the lifespans of extinct species, but, more important, it is fundamental for wildlife management and conservation. It can help the endangered species, helping to understand what populations are viable. Hunting and fisheries can also be controlled, with the help of lifespan to determine catch limits.

The function of gene body methylation is not well understood. But it looks like the new research might narrow the way to understanding it. DNA methylation is a biological process that studies heritable phenotype changes that do not involve alterations in the DNA sequence. DNA methylation patterns are largely erased and then re-established between generations in mammals. Almost all of the methylations from the parents are erased.

In humans and other mammals, DNA methylation levels can be used to accurately estimate the age of tissues and cell types, forming an accurate epigenetic clock. The loss of methylation is proportional to age. The lifespan of vertebrate species can be estimated by looking at where DNA methylation occurs in 42 particular genes.

And it looks like humans are expected to live no more than 38 years. The difference we live to see today, between the DNA expiry date and how long humans live today, is due to the outstanding evolution of medicine and lifestyle. It looks lifestyle can overcome DNA prognostic.

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Epigenetics Market- Growth Opportunities by Manufacturers, Regions, Type, Application and Trends Forecast – Redhill Local Councillors

Posted: February 14, 2020 at 5:45 pm

Epigenetics Market Overview

The Epigenetics Market report released and promoted by CMI draw out historical, existing, and forecast valuation of the Epigenetics industry till 2026. The report highlights the market essentials, opportunities, regional market, Emerging Growth Factors, market challenges, forecast and competitors joined with their market share. The fundamental purpose of Epigenetics Market report is to provide a appropriate and strategic analysis of the Epigenetics industry.

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The research process involved the study of various factors affecting the industry, including the government policy, market situation, competitive landscape, historical data, present trends in the market, technological innovation, upcoming technologies and the technical progress in related industry, and market risks, opportunities, market barriers, and challenges.

Top merchant analysis is one of the key component and is exceptionally helpful for each player to comprehend focused scene in the market. Major key companies present in Epigenetics market report are:Illumina Inc., Thermo Fisher Scientific Inc., Merck Millipore Limited, Bio-Rad Laboratories, Inc., Qiagen Inc., Zymo Research Corporation, Diagenode s. a., Enzo Life Sciences, Inc. and New England Biolabs Inc.

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The rise of personalised nutrition – New Straits Times

Posted: February 14, 2020 at 5:45 pm

Its not just about eating right anymore but a diet that meets the specific needs of your body

EVERYONE wants to be as healthy as they can be. However, while wearable technology has made it possible for people to track their physical activity, personalised nutrition has yet to be fully addressed.

For example - while it is basic understanding that a clean diet and frequent exercise will lead to weight loss, a one-size fits all approach may not work for everybody.

Perhaps some people need more calcium, while others may need to up their protein intake. Each body is different, and in-depth analysis can provide a clearer picture of what needs to be done.

How does personalised nutrition work?

Sandeep Gupta, chief founder and director of the Expert Nutraceutical Advocacy Council (ENAC) says consumers are constantly finding ways to monitor their health status.

We are entering an age of personalised nutrition where science and technology can dictate which foods are right for us. Its not only for weight management, but more importantly to manage our overall health and well-being, says Gupta, who was also a speaker at the Vitafoods Asia 2019 Conference from Sept 25-26 last year.

Not long ago, we believed our genetic makeup was pre-determined and a biological reality, he says.

The emergence of epigenetics, which is the study of mechanisms that switch genes on and off, has shed light on the fact that our genes are fluid and can be shaped by various internal and external factors, Gupta notes.

We are entering an age where science and technology can dictate which foods are right for us. Picture: Designed by Freepik.

Personalised nutrition companies collect and analyse your biodata, after which, they customise nutrition plans that help you meet your health goals, be it weight management or disease prevention.

Biodata is collected in various ways. For instance, wearable devices can collect rudimentary data such as your rate of physical activity or height and weight. Home testing kits collect specialised data such as DNA, nutrient levels in blood, blood types and even gut microbiomes.

Europe and the United States are at the forefront of personalised nutrition. It is also a growing trend in Asia, with developed countries such as Japan, South Korea and Singapore seeing most activity.

Some examples in Asia include Singapores Imagene Labs, which formulates supplements and fitness solutions according to DNA; and Nestle Japans partnership with Genesis Healthcare and Halmek Ventures, both of which are DNA labs based in Japan, designed to provide personalised nutrition advice for senior citizens. The partnership has garnered over 100,000 participants since its announcement..

Less developed countries in Asia have yet to catch on due to the high costs of personalised nutrition programmes, where fees can run into the hundreds or even thousands, says Thomas Hayes, an analyst at Lux Research.

A one-size-fits-all diet does not work. anymore. Picture: Designed by Freepik.

THE CHALLENGES

Disease prevention is a key aim of personalised nutrition. Diabetes, which can be prevented through improving ones diet, is an example.

Hayes, who was also a speaker the Vitafoods Asia 2019 conference, hopes personalised nutrition will help eliminate Type 2 diabetes, the more common form of diabetes, which afflicts nearly half a billion people around the globe. Hayes adds that the global cost of diabetes is estimated to be almost US$1 trillion (RM4.13 trillion) per year; the bulk of this cost is spent on managing the complications that arise from diabetes, rather than treating diabetes itself.

The combination of increasing disease prevalence and increasing per capita cost signals that new solutions are needed to supplement, or replace, traditional diabetes prevention and management tools, he explains.

Personalised nutrition, says Hayes, can help on the prevention front, by uncovering genetic qualities of those who are predisposed to develop diabetes.

As such, we see genetics being a necessary data input in forming personalised nutrition recommendations and products for diabetes prevention, he adds.

But key challenges in its mainstream adoption remain there needs to be more scientifically-backed evidence on what works and what does not. That will also justify the higher costs involved in customising nutrition plans, says Hayes.

Gupta agrees with Hayes. He says it can be challenging to design effective and efficient personalised nutrition services for different individuals and getting the technology in sync with parameters like individual dietary preferences, age group, health conditions. Doing this is costly and companies may face growth constraints as a result.

Furthermore, the data needs to be extra secure to ensure it does not end up in the wrong hands adds Gupta.

Personalised nutrition helps you meet your health goals. Picture:Designed by timolina / Freepik.

To resolve these issues, Hayes recommends that personalised nutrition start-ups partner with large corporations to offset the high costs of research and customisation.

A personalised nutrition start-up can approach a large corporation pitching it as a preventative tool for employees. Corporations can offset costs and offer it as part of healthcare benefits. Insurers can also work with employers to cover the cost of personalised nutrition programmes. he says.

*Article courtesy of Vitafoods Asia.

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Two from UAB lauded as among 100 inspiring black scientists in America – UAB News

Posted: February 14, 2020 at 5:45 pm

Two UAB neuroscientists have been included in a listing of 100 of the most inspiring black scientists in the nation.

Farah Lubin, Ph.D., and Michelle Gray, Ph.D.Two scientists on the faculty at the University of Alabama at Birmingham have been named to a list of 100 inspiring black scientists in America by Cross Talk, the official blog of Cell Press, a leading publisher of cutting-edge biomedical and physical science research and reviews.

Farah Lubin, Ph.D., associate professor in the Department of Neurobiology, and Michelle Gray, Ph.D., associate professor in the Department of Neurology, made the list.

The blogs guest author is Antentor O. Hinton Jr., Ph.D., a Ford Foundation and Burroughs Wellcome Fund postdoctoral fellow at the University of Iowa.

Theres a plethora of black scientists who make significant contributions to science, but many of them are unknown to the masses, Hinton said. Its imperative that young black scientists know about the myriad accomplished scientists from African, Afro-Caribbean, Afro-Latinx, and African American backgrounds in the fields of life sciences, chemistry, engineering and physics.

Lubin is the director of the NINDS-funded Neuroscience Roadmap Scholar Program. She is also a scientist in the Comprehensive Center for Healthy Aging, the Comprehensive Neuroscience Center, the Center for Neurodegeneration and Experimental Therapeutics, and the Evelyn F. McKnight Brain Institute. Her research focuses on learning, memory and synaptic plasticity, epigenetics, non-coding RNAs gene transcription, epilepsy disorders, neurodevelopment, and developmental disabilities.

Gray is the Dixon Scholar in Neuroscience in the Center for Neurodegeneration and Experimental Therapeutics, a scientist in the Comprehensive Neuroscience Center and the Evelyn F. McKnight Brain Institute, and co-director for the School of Medicines Summer in Biomedical Sciences Undergraduate Research Program. Her research focuses on the pathogenesis of Huntingtons disease with a specific interest in astrocytes, as well as cardiac abnormalities in Huntingtons disease and X-linked dystonia Parkinsonism.

The list includes 75 established investigators, including Lubin and Gray, who range from tenure track assistant professors to full professors and 25 scientists whom the author labels as rising stars.

Visit Cross Talk to see the list in its entirety.

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Three Penn faculty named 2020 Sloan Research Fellows – Penn: Office of University Communications

Posted: February 14, 2020 at 5:45 pm

Liang Feng of the School of Engineering and Applied Science, Erica Korb of the Perelman School of Medicine, and Weijie Su of the Wharton School are among the 126 recipients of the 2020 Sloan Research Fellowship. The award recognizes early-career researchers and scholars in the United States and Canada, and each recipient will receive a two-year, $70,000 Fellowship for their research.

Feng is an assistant professor in the Department of Materials Science and Engineering and holds a secondary appointment in the Department of Electrical and Systems Engineering. His expertise is at the intersection of nanomaterials and photonics, with an eye toward applications in computer and communication systems. By exploring quantum symmetry to design materials that can generate photons with properties necessary for their use as a carrier of information, or efficiently route them from place to place on a photonic computer chip, Feng aims to develop the circuit architecture necessary for the next generation of sensing, computational, and communication technologies.

Korb is an assistant professor in the Department of Genetics. Her lab works at the intersection of neuroscience and epigenetics, studying how the environment can influence gene expression in neurons in ways that enable humans to learn and adapt. Her research is focused on chromatin, the complex of DNA and histone proteins which package DNA into complex structures, and on how chromatin regulates neuronal function and neurodevelopmental disorders.

Su is an assistant professor in the Department of Statistics. He works with high-dimensional statistics, deep-learning theory, machine-learning optimization, and privacy protection. Su is also the co-director of the Penn Research in Machine Learning forum, a joint effort between Engineering and Wharton that connects the large and diverse machine-learning community at Penn. He is also a recipient of the 2019 National Science Foundation CAREER award, which recognizes early-career faculty who have the potential to serve as academic role models in both research and education.

Since the first Sloan Research Fellowships were awarded in 1955, 120 faculty from Penn have received Sloan Research Fellowships.

Candidates must be nominated by their fellow scientists and winning Fellows are selected by independent panels of senior scholars on the basis of research accomplishments, creativity, and potential to become a leader in their field.

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Why Neurologists and Research Psychologists Think that Meditation Teachers, Yoga Teachers, Self-Help Gurus, and Life Coaches Are Liars, Frauds, and…

Posted: February 14, 2020 at 5:45 pm

When I meditate, I literally can feel the neuropathways in my mind opening up. ~ Katy Perry, Elle.

One sees that science also rests on a faith. ~ Nietzsche

That whereof we cannot speak, thereof we must remain silent. ~ Wittgenstein

Over the past 30 years of seeking, I have heard meditation teachers, yoga teachers, self-help gurus and life coaches utter factoids in their classes such as

If your meditation teacher starts prattling on about his corpus callosum, prefrontal cortex, epigenetics, and/or neuroplasticity, you should run out of the room screaming. This person is either a liar, a charlatan, or a fucking idiot. Anyone who has not spent 1020 years in a laboratory analyzing human brains and conducting scientific research should not casually pepper lectures with factoids gleaned from the Internet or the copy of Psychology Today magazine sitting in his or her therapists waiting room.

In the summer of 1994 Peter Guber invited Deepak Chopra to speak at Sony Pictures and I was in the audience. If I remember correctly, Doctor Deep said something such as, Human beings have 50,00070,000 thoughts every day and most of them are redundant and negative. In case you dont already know, Deepak Chopra is a medical doctor who taught at Tufts and Boston University School of Medicine and was Chief of Staff at the New England Memorial Hospital in Stoneham, Massachusetts. For many years, when I was teaching at Esalen or Kripalu I would quote Doctor Deep to impress my students with this supposedly scientific ditty.

That is, until late 2016 when I sent the final draft of How To Survive Your Childhood Now That Youre An Adult to my editor at New World Library. She kindly asked me to send her the scientific studies demonstrating that human beings have 50,00070,000 thoughts every day and that most of them are redundant and negative.

Please take 30 seconds now to Google number of thoughts per day scientific study.

What did you find?

Ill tell you what you found. You found unscientific (unreplicable), tautological, self-serving psychobabble. Thats what you found. Nonetheless, I have been a student in over one hundred classes where teachers nonchalantly claim that every human being has 50,00070,000 thoughts every day and most of those thoughts are redundant and negative.

Just think about it: how would a neurologist even measure one thought? How could a scientist even define what constitutes a thought? And how would a scientist be able to discern if that thought was positive or negative? What were the criteria? Would A bear is chasing you. Run! be considered a positive or negative thought? Is The sky is blue a positive or negative thought? What if you are a farmer whose crops need rain or they will not grow and you will lose your farm? Is sky is blue universally positive?

OK, so if your meditation or yoga teacher mentions numbers of thoughts per day please ask him or her to cite the research studies I couldnt find any.

Because its a complete fiction, an urban legend.

Similarly, in my book I write, Human beings do not have direct introspection into brain states. At no time in your lifetime will you hear someone say, Synapses 85,932 and 700,774 just fired. I need to take an aspirin. So when Katy Perry states, When I meditate, I literally can feel the neuropathways in my mind opening up she is obviously delusional. Literally delusional (although I am uncertain to what literature she is referring). 1. There are no neural pathways in her mind for her to feel (the mind is non-local), and 2. not even His Holiness the Dalai Lama can feel inside his own brain not even with the perfect dose of LSD or ayahuasca.

To be clear, fMRI machines measure magnetic waves in the brain; EEG machines measure electricity. Then expert physicians and neurologists can witness patterns and discern abnormalities. But does a neuron firing an electrical stimulus correlate with a thought? Does a wave correspond with a thought?

Nobody knows. Not yet, at least.

So why is it that armchair neurologists (who have never seen a human brain except in a horror film) write or say things such as

Studies show that gratitude ACTIVATES the hypothalamus

The hypothalamus regulates all bodily mechanisms, one of which is sleep

Thus, gratitude improves sleep quality

What???

This is what I call a false syllogism. A plus B does not equal C. Can you discern the missing, direct causal link here? A scientific study would have to establish direct CAUSALITY between people expressing gratitude and the quality (quality? REM cycles how is sleep quality determined? Duration? Subjective retrospective recounting?) while eliminating or holding constant all other variables that could influence quality of sleep such as food, exercise, light, caffeine, relationships, alcohol, nicotine, previous amounts and types of sleep, levels of anxiety, brain chemistry, medications, talking, meditating etc.

I find it fascinating that so many hucksters can blatantly and egregiously misinterpret the pittance that neurologists know about the brain namely, studies show that gratitude activates the hypothalamus to arrive at grandiose conclusions such as, Gratitude improves sleep quality!

Speaking of which, this is another way to discern if your teacher is fucking idiot or not: neurologists say and write things such as, Studies SUGGEST SUGGEST SUGGEST while meditation teachers, yoga teachers, self-help gurus, and life coaches often say things such as, Studies PROVE Research DEMONSTRATES Studies SHOW or They have proven with this They being some mysterious yet authoritative, omniscient and definitive cabal of fellow human beings in lab coats with dubious facial hair arrangements hovering over Petri dishes in a windowless basement in Cambridge, Massachusetts.

For example, I have heard non-neurologists say, Epigenetics proves that thoughts change genes! which is patently false. Epigenetics studies the changes of gene expression the genes do not change, only their expressions change. Do you understand the difference and thus the myriad false claims (lies) hawkers make through ever-so slighltly altering their diction from suggest to show, prove or demonstrate?

Similarly, in scientific research journals, neurologists employ conditional terms such as may as in may or may not. For example, Practicing yoga MAY MAY MAY make people happier. But by the time this information reaches our ears while we hold Warrior II pose until our arms and legs go numb, our local yoga teacher is shouting, They proved it! Yoga makes people happy!

Really?

After class, you can ask who they are and what causality they unequivocally established between yoga and happiness. Thats not to say that I havent practiced yoga for 26 years and I wouldnt swear that it makes me happier within one or two standard deviations, notwithstanding the extremely limited statistical population and random variables such as what I ate for breakfast that morning. Trying to prove scientifically that yoga causes everyone to be happier would be analogous to trying to measure milk with a ruler.

It is obvious that many self-help gurus, meditation teachers, and life coaches consistently mistake research for conclusions, c.f. Amy Cuddy. What type of malarkey must one peddle to the masses to be asked to leave a tenure-track position at Harvard? Ask former Professor Cuddy.

So unless you have the spent the past 10-20 years like Jill Bolte Taylor in a laboratory with human brains sloshing around your gloved hands and the occupation box on the first page of your tax return reads Scientist, Neurologist, or Neuro-biologist, you may just want to take Ludwig Wittgensteins prescient advice to heart and shut the fuck up about neuroplasticity, epigenetics, your corpus callosum, or rewiring your mind.

For thereof non-neurologists must remain silent.

Namaste!

Oh yeah this quote by Michel Foucault may or may not pertain to the above: Ive met a lot of people who talk about the intellectual. And listening to them, Ive got some idea of what such an animal could be. Its not difficult hes quite personified. Hes guilty of pretty well everything: of speaking out and of keeping silent, of doing nothing and of getting involved in everything In short, the intellectual is raw material for a verdict, a sentence, a condemnation, an exclusion

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Remote collaborative research drives new insights on a rare genetic disorder linked to schizophrenia – USC News

Posted: February 14, 2020 at 3:46 am

The key to a better understanding of schizophrenia may exist in a genetic disorder so rare that researchers havent been able to conduct an adequate study until now.

The genetic disorder 22q11.2 deletion syndrome (22q11DS), caused by a small segment of missing DNA on chromosome 22, is the strongest known genetic risk factor for developing schizophrenia. About a quarter of people with the disorder develop schizophrenia or experience psychotic symptoms, so studying it provides a unique window into how such psychiatric problems develop over time.

But theres one problem: Only about one in 4,000 people have it. Even a large city like Los Angeles may hold just a few hundred people with the condition.

Fortunately, the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) consortium, led by Paul M. Thompson, PhD, associate director of the Mark and Mary Stevens Neuroimaging and Informatics Institute (INI) at the Keck School of Medicine of USC, has spent the past 10 years uniting researchers around the world to pool data and insights on rare diseases. Now, ENIGMA has launched a new working group to study 22q11DS using data collected by researchers across the U.S., Canada, Europe, Australia and South America.

Weve pieced together many of the major research centers studying 22q11DS around the world to create the largest-ever neuroimaging study of the disorder, said Christopher Ching, PhD, a postdoctoral researcher at the INI and lead author of the working groups latest study.

Thompson, Ching and the ENIGMA 22q11.2 Deletion Syndrome Working Group published their results in the American Journal of Psychiatry on Feb. 12.

Correlations become clear with advanced neuroimaging

To get a clear picture of the brain abnormalities associated with schizophrenia in individuals with 22q11DS, the studys authors examined magnetic resonance imaging (MRI) scans from 533 people with the disorder and 330 healthy control subjects. Using advanced analytic techniques developed at the USC INI, the authors measured and mapped structural differences between the brains of the two groups.

Overall, individuals with 22q11DS had significantly lower brain volumes, as well as lower volumes in specific structures including the thalamus, hippocampus and amygdala, compared with the control group. They also had higher volumes in several brain structures. The magnitude of these abnormalities, especially in those 22q11DS individuals that had psychosis, was larger than is typical in many other common psychiatric conditions.

Notably, the brain changes seen in people with 22q11DS and psychosis significantly overlapped with the brain changes observed in the largest-ever neuroimaging studies of schizophrenia and other serious mental illnesses including bipolar disorder, major depression and obsessive-compulsive disorder.

Thats important because these overlapping brain signatures add evidence to support 22q11DS as a good model for understanding schizophrenia in the wider population, Ching said. And thanks to these large ENIGMA studies, we now have a way to directly compare standardized brain markers across major psychiatric illnesses on an unprecedented scale.

This powerful connection means that studying 22q11DS may provide a clear path toward finding a biomarker, or a reliable biological indicator, of schizophrenia. Because of the large sample size used in the analysis, the researchers also found that larger segments of missing DNA in 22q11DS are linked to more extensive brain abnormalities.

Next steps in research

Looking forward, the studys authors aim to explore the similarities between brain abnormalities in individuals with 22q11DS and those with schizophrenia, bipolar disorder, major depressive disorder and obsessive-compulsive disorder, drawing on data from other ENIGMA groups to better understand whether various psychiatric illnesses may share common origins and affect similar or distinct brain circuits.

The group also plans to use these new analytic tools to explore 22q11DS in animal models, where they can conduct more controlled experiments to better understand the effects of the missing DNA segments across development.

We can even experimentally manipulate specific genes within the locus to better understand how and when they are affecting the development of these brain structures, said Carrie Bearden, PhD, professor of psychiatry and biobehavioral science and psychology at the University of California, Los Angeles, chair of the working group and corresponding author of the study.

Zara Greenbaum

The study was funded by NIHgrantU54EB020403 from the Big Data to Knowledge (BD2K) Program, NIMH Grant RO1 MH085953, and NIA T32AG058507.

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Remote collaborative research drives new insights on a rare genetic disorder linked to schizophrenia - USC News

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