We’re genetic counseling experts with the National Society of Genetic Counselors. Genetic counselors receive special training in two areas: genetics and counseling. We use our advanced training to guide and support patients seeking more information about how inherited diseases and conditions might affect them or their families, and to interpret genetic test results. The genetic counseling process integrates: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition. Helping patients and families prepare for or navigate at-home genetic test results. NSGC serves as an integral resource for patients, prospective students and healthcare providers interested in learning more about genetic counseling. We’re doing this AMA as part of the National Human Genome Research Institute’s National DNA Day Reddit AMA series! Ask us anything! Here’s a bit about those of us answering your questions today: Erica Ramos, MS, CGC: I am NSGC’s President and Personalized Medicine Expert. I can discuss next-generation DNA sequencing technologies such as whole genome and whole exome sequencing, and how these technologies are impacting healthcare and benefiting patients. Amy Sturm, MS, CGC, LGC: I am president-elect of NSGC and NSGC’s Cardiovascular Expert. I have more than 14 years of experience helping patients with a higher risk of genetic heart disease understand their familial risk and genetic testing results. I am a nationally recognized expert on familial hypercholesterolemia and can also discuss other hereditary forms of heart disease, including cardiomyopathies, arrhythmias, familial aneurysms and others. Joy Larsen Haidle, MS, CGC: I am a past president of NSGC and an NSGC Cancer Expert. I can discuss hereditary cancer syndromes such as Lynch syndrome and hereditary breast cancer. I am an active public policy advocate for genetic testing. Jason Flanagan, MS, CGC: I am NSGC’s Reproductive Health Expert. I can discuss preconception and prenatal genetics, such as how genetics affect infertility and miscarriage, as well as the process and ethics surrounding preimplantation genetic screening. Ana Morales, MS, LGC: I am NSGC’s Cardiovascular Genetics and Spanish-Language Expert. I specialize in genetics and heart conditions and I’m a nationally recognized expert on cardiomyopathy, a common condition in which the heart muscle’s ability to pump blood is diminished. I can also discuss how I’ve worked to expand access to genetic information in the Spanish-speaking community. Brianne Kirkpatrick, MS, LCGC: I am NSGC’s Ancestry Expert. I can discuss the use of genealogy and DNA testing for exploring family connections and genetic health risks. I can also discuss limitations and benefits of the popular at-home genetic tests. Blair Stevens, MS, CGC: I am NSGC’s Prenatal Expert. I have 10 years of experience counseling patients and their families about their risks to have a baby with a genetic condition as well as testing options for conditions such as Down syndrome, cystic fibrosis, sickle cell anemia and spina bifida. I have a passion for helping families who carry a pregnancy diagnosed with a genetic condition or developmental difference. Trish Brown, MS, LCGC: I am NSGC’s Policy and Nutrition Expert. I have more than 20 years of experience in clinical genetics and can discuss DNA testing for nutrition and fitness, at-home genetic tests, the study of pharmacogenetics, and policy issues. If you would like more information about genetic counselors and the role we can play in your healthcare, visit our website: aboutgeneticcounselors.com. Updated: Thank you all for participating in today’s AMA! We’ve enjoyed answering your questions. You can find more easy-to-understand genetics information on our website AboutGeneticCounselors.com. If you’re interested in genetics and infertility and have more questions on the topic, tune into a free webinar tonight at 7 p.m. CT. Sign up and see future webinar topics here: https://goo.gl/ZDFTrM Thank you, Reddit!

ClareChambers

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I will return at 12PM EDT to answer questions live. Please feel free to leave questions ahead of time! I am Clare Chambers, University Senior Lecturer in Philosophy at the University of Cambridge. I am a political philosopher specialising in contemporary feminist and liberal theory. I’ve been researching and teaching at Cambridge for twelve years. I was educated in the analytical tradition of political theory at the University of Oxford, where I did Politics, Philosophy, and Economics as an undergraduate. After a year spent as a civil servant I studied for an MSc in Political Theory at the London School of Economics. At the LSE I continued working on analytical approaches to political theory in contemporary liberalism, but I also engaged in a sustained way with feminist thought, and with the work of Michel Foucault. It seemed obvious that Foucault’s analysis of power and social construction was of profound relevance to liberal theory, but l had never read work that engaged both traditions. Wanting to work on this combination for my doctorate, I returned to Oxford to be supervised by Prof Lois McNay, who specialises in feminist and post-structural theory, together with Prof David Miller, who specialises in contemporary analytical thought. The result was a thesis that later became my first book: Sex, Culture, and Justice: The Limits of Choice (2008). Sex, Culture, and Justice argues that the fact of social construction undermines the liberal focus on choice. Liberals treat choice as what I call a “normative transformer”: something that changes a situation from unjust to just. If someone is disadvantaged liberals are likely to criticise that disadvantage as an unjust inequality, but will change that assessment if the disadvantage results from the individual’s choice. For example, women may choose to take low-paid jobs, or to prioritise family over career, or to follow religions that treat them unequally, or to engage in practices associated with gender inequality. However, our choices are affected by social construction. Our social context affects the options that are available to us. It affects whether those options are generally thought to appropriate for people like us. And it affects what we want to do. I argue that, if our choices are socially constructed in these ways, it doesn’t make sense to use them as the measure for whether our situation or our society is just. Instead we need to develop the normative resources for critically analysing choice. Most feminists understand this, and liberals should, too. Feminism is a movement that seeks to empower women, which in part means giving women choice, but it is also a movement that recognises the profound limitations on individual choice, and the way that power, inequality, and social norms shape our choices. My most recent book also combines feminist and liberal analysis and tackles a specific question of state regulation. Against Marriage: An Egalitarian Defence of the Marriage-Free State argues that the state should not recognise marriage. Even if state-recognised marriage is reformed to include same-sex marriage, as has happened in many states recently, it still violates freedom and equality. Traditionally, marriage entrenches sexism and heterosexism, and this traditional symbolic meaning has not been destroyed. And all state recognition of marriage treats married and unmarried people and their children unequally, elevating one way of life or relationship form above others. The fact that state recognition of marriage involves endorsing a particular way of life also means that it undermines liberty, especially as political liberals understand that idea. Instead of recognising marriage, the state should regulate relationship practices. Other areas that I work on include multiculturalism and religion, political liberalism and the work of John Rawls, beauty and cosmetic surgery, the concept of equality of opportunity, and varieties of feminism including liberal feminism and radical feminism. I am about to start a new project on the political philosophy of the unmodified body. Thank you for joining me here! (My proof has been verified by the moderators of /r/philosophy.) Some of My Work: “Marriage as a Violation of Equality” - the first chapter of Against Marriage (OUP 2017). You can purchase this book with a 30% discount by going to the OUP site and using promocode AAFLYG6 at checkout Podcast interview on “The State and Marriage” “The Marriage Free State” - podcast recording and paper draft “Sex, Culture and Justice” - interview at 3:AM Magazine Multiculturalism Bites podcast interview on when intervention in peoples’ lives is justified Thank you very much everyone! I really enjoyed your questions. I’m logging off now as the sun starts to set here in the UK. If you’d like to read more about me and follow my work you can find lots more on my website at www.clarechambers.com, which is regularly updated. Goodbye!

Annette_Thomas

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In 2016, Web of Science (WoS) was sold to private equity and incorporated into Clarivate Analytics. Our vision for WoS is both ambitious and long-term. When used responsibly scientometrics and bibliometrics offer vital measures of scientific and research output and impact. The Journal Impact Factor, derived from WoS data, is one metric that is particularly valued. But it is not, and should not, be the only measure. For years, these limitations have encouraged healthy debate among the academic community, which has spurred the development of additional ranking platforms that have varied in accuracy. I believe that our history, expertise, and—most importantly—publisher-neutral status perfectly positions WoS to advance the field of scientometrics. And that is exactly what we’re setting out to do. In February, we re-established the Institute for Scientific Information (ISI), which will act as a think-tank, to identify gaps in and explore new ways to enhance scientometrics. Today, Clarivate Analytics announced the acquisition of Kopernio, the definitive publisher-neutral platform for research workflow and analysis for scientific researchers, publishers and institutions worldwide. Kopernio’s vision is to legally provide one-click access to millions of journal articles and academic research papers across the globe, dramatically improving and facilitating access to scientific knowledge. Not only will it revolutionize how academics access research papers, it will also provide unprecedented insights for institutions and publishers into how academics consume this research. These kind of data could feed into article-level scientometric analysis that could, one day, produce a novel way to measure research impact. The path of scientific discovery is long, and every now and then this path is punctuated by a eureka moment. A breakthrough. Today, I’m excited because I believe we are at a new dawn for scientometrics… I’ll be back at 1 pm EDT (6 pm GMT) to answer questions. UPDATE I think our time is nearly up! Thanks everyone for your questions, they’ve been great! I’m happy to come back later and respond to anything I’ve missed. Where has the time gone? You can find out more about our Kopernio acquisition here: https://clarivate.com/blog/news/clarivate-analytics-acquires-research-startup-kopernio-accelerate-pace-scientific-innovation/
Hi Reddit, my name is Natalia Trayanova, and I’m a professor of biomedical engineering and medicine at Johns Hopkins University. My lab uses predictive computer simulations to generate personalized virtual hearts of patients that have life-threatening arrhythmias. These first-of-their-kind virtual hearts are already being used in the clinic to assess patient risk of sudden cardiac death and to guide personalized anti-arrhythmia interventions. Simulation-driven engineering has put rockets in space, and airplanes in the sky. We trust engineering advances with our lives, however, when it comes to our own health, things are quite different. Computer simulations are rarely used in medicine. Our vision is to change this – we aim to bring computer simulations to the clinic, to make precise decisions for treatments for heart disease. We believe implementing an engineering data-driven simulation approach will increase the efficacy of diagnostic and clinical procedures for heart rhythm disorders and democratize the delivery of cardiac healthcare. You can learn more about our virtual heart approach in a recent TEDx talk [https://www.youtube.com/watch?v=wSDMPxGGy3A], and in this video describing our pioneering approach [https://youtu.be/bX62KNOfdBs]. We hope our virtual hearts will become a routine tool in the clinic, improving patient outcomes, which would be an unprecedented merging of computational simulation and clinical medicine. It has been extraordinarily fulfilling to have transcended my role as scientist and engineer, to be working directly with physicians helping patients. This is an unexpected and an exhilarating place to be. I look forward to having you #AskMeAnything on April 2nd, 1 PM ET.

nate

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Just like last year, 2016 and 2015, we are not doing any April Fool’s day jokes, nor are we allowing them. Please do not submit anything like that. We are taking this opportunity to have a discussion with the community. What are we doing right or wrong? How could we make /r/science better? Ask us anything. Further, if you’ve completed a degree, consider getting flair in r/science through our Science Verified User Program /r/science has a a system of verifying accounts for commenting, enabling trained scientists, doctors and engineers to make credible comments in /r/science . The intent of this program is to enable the general public to distinguish between an educated opinion and a random comment without a background related to the topic. What flair is available? All of the standard science disciplines would be represented, matching those in the sidebar. However, to better inform the public, the level of education is displayed in the flair too. For example, a Professor of Biology is tagged as such (Professor | Biology), while a graduate student of biology is tagged as “Grad Student | Biology.” Nurses would be tagged differently than doctors, etc… We give flair for engineering, social sciences, natural sciences and even, on occasion, music. It’s your flair, if you finished a degree in something and you can offer some proof, we’ll consider it. The general format is: Level of education | Field | Speciality or Subfield (optional) When applying for a flair, please inform us on what you want it to say. How does one obtain flair? First, have a college degree or higher. Next, send an email with your information to redditscienceflair@gmail.com with information that establishes your claim, this can be a photo of your diploma or course registration, a business card, a verifiable email address, or some other identification. Please include the following information: Username: Flair text: Degree level | Degree area | Speciality Flair class: for example: Username: nate Flair text: PhD | Chemistry | Synthetic Organic Flair Class: chemistry Due to limitations of time (mods are volunteers) it may take a few days for you flair to be assigned, (we’re working on it!) This email address is restricted access, and only mods which actively assign user flair may log in. All information will be kept in confidence and not released to the public under any circumstances. Your email will then be deleted after verification, leaving no record. For added security, you may submit an imgur link and then delete it after verification. Remember, that within the proof, you must tie your account name to the information in the picture. What is expected of a verified account? We expect a higher level of conduct than a non-verified account, if another user makes inappropriate comments they should report them to the mods who will take appropriate action. Thanks for making /r/science a better place!

eLife_AMA

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See the eLife flyer and this post for pictures! Daniel Himmelstein (@dhimmel on Reddit, Steem, and Twitter) – Hi Reddit! I’m a data scientist in Casey Greene’s lab at the University of Pennsylvania. Before this, I got my PhD in Biological & Medical Informatics at the University of California, San Francisco. One reason I took the job at Penn (watch me accept the job on YouTube) was because I wanted to continue advancing open science – the idea that science will progress most quickly if research is immediately open without barriers to reuse and collaboration. Sci-Hub is a website that brands itself as the first pirate website in the world to provide mass and public access to tens of millions of research papers. It is a controversial form of open science, because it infringes upon the copyright of publishers. However, it’s interesting because we think it will push scholarly publishing towards more open business models. Therefore, when Sci-Hub tweeted the list of every article in its database in March 2017, we began analyzing it openly on GitHub. Fast-forward almost a year and, after the publication of three preprint articles, we published our findings in the journal eLife with the title Sci-Hub provides access to nearly all scholarly literature. We also created a Stats Browser to help anyone explore the data. Casey Greene (@greenescientist on Reddit, Steem, and Twitter) – My research lab is in the Department of Systems Pharmacology and Translational Therapeutics at the University of Pennsylvania. Our primary focus is on developing machine learning methods to better understand human health and disease. I also run the Childhood Cancer Data Lab for Alex’s Lemonade Stand Foundation, which is focused on integrating large-scale data to accelerate the pace of discovery. In addition to our research, I have an interest in the process of scientific communication, including our work studying Sci-Hub, our efforts to write a review paper entirely in the open via GitHub, and our biOverlay effort to launch an overlay for the life sciences. We’re here to answer questions about our eLife paper, or our work more broadly. We’ll start answering questions at 2pm EDT. AMA!

Bernard_Kress

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Immersive modes, such as Augmented Reality and Mixed Reality headsets, have the power to revolutionize how we work, play, teach, learn and shop. Enterprise already offers solutions for specific AR tasks in engineering, manufacturing, design, health care, architecture, retail and gaming; return on investment is mainly cost avoidance (shorter learning cycles, less errors, better communication, productivity and yields, etc.). However, most actors involved in developing the AR ecosystem (from hardware to app development platform to apps and content) agree that it will take a long time for hardware to hit the consumer level comfort required for mass adoption (5 to 10 years). Some of the hardware issues to solve, specifically from an optical engineering point of view, are: • Higher FOV and higher resolution through active foveation • Vergence Accommodation Conflict (VAC) mitigation through varifocal, multifocal, light field or true holographic display • Pixel occlusion for HDR for more “realistic” holograms • Higher brightness over a decent eye box for external usage (lower power, higher brightness / contrast displays and high efficient optics) • More accurate, less power, more compact IR and visible sensors (sensor hardware fusion: Head tracking, eye tracking, gesture tracking, 3D scanning, multispectral) There are many other challenges for the ultimate consumer AR experience (such as overall CG, size and weight, battery life, head dissipation, 5G connectivity for cloud rendering, etc…) which we will not discuss today. If you would like more information outside of this AMA, I will be at SPIE Photonics Europe in Strasbourg, France next month for the Digital Optics for Immersive Displays conference. You can also take my free course “An Introduction to VR, AR, MR and Smart Eyewear: Market Expectations, Hardware Requirements and Investment Patterns” on the SPIE Digital Library. It was recorded live at SPIE Photonics West in January. Enjoy!

NASASunEarth

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EDIT 4:35 pm ET: Thank you all for your excellent questions. It’s been a lot of fun sharing our science with you. We’re signing off now. We have just published a study detailing “Steve,” an aurora-related dancing purple light first spotted – and named! – by amateur photographers. This new information about Steve comes from analyzing satellite data, all-sky cameras and additional citizen-scientist photographs. Steve’s scientific name is now Strong Thermal Emission Velocity Enhancement (which can still be shortened to STEVE). STEVE appears as a faint purple ribbon of light in the sky and is often accompanied by a short-lived, green, picket fence structure. It looks much like an aurora but occurs at lower latitudes closer to the equator. After analyzing satellite data, we learned that STEVE is the visible side of something we were already familiar with: sub auroral ion drift (SAID), a fast moving stream of extremely hot particles. SAIDs appear in areas closer to the equator (like southern Canada) than where most auroras appear. Until now, we never knew SAIDs had a visual component! Studying STEVE can help us paint a better picture of how Earth’s magnetic fields function and interact with charged particles in space. You can help us learn more about STEVE by submitting your photographs and sightings of the phenomenon to a citizen science project called Aurorasaurus (online at aurorasaurus.org or on your device as iOS and Android apps). Check here for more details about how to spot STEVE. Answering your questions today are: Liz MacDonald, space scientist at NASA’s Goddard Space Flight Center in Greenbelt, Maryland, and founder of Aurorasaurus Chris Ratzlaff, citizen scientist who first named Steve; runs the Alberta Aurora Chasers Facebook group Burcu Kosar, space scientist at NASA Goddard Matt Heavner, space scientist at the New Mexico Consortium, Los Alamos, New Mexico Bea Gallardo-Lacourt, space physicist at the University of Calgary, Canada Bill Archer, space scientist at the University of Saskatchewan, Saskatoon, Canada Megan Gillies, space scientist at the University of Calgary, Canada We are now live. @NASASun on Twitter

Steve-Gardner

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Our current focus is to solve the data challenge to model diseases the way they actually happen – where multiple factors from genes to lifestyle (how much you drink and smoke) work in parallel to protect or harm. The challenge is to analyze both structured and unstructured data in parallel, from genetic sequences to MRI (or other clinical scans) and to do so across large populations of diseased patients plus healthy controls to inform treatment for an individual based on his/her own unique profile. The computational challenge is massive given the exponential number of data combinations that need to be analyzed. I’ve also been applying artificial intelligence & machine-learning to develop knowledge graphs and semantic search tools to enable automated discovery of related concepts versus the traditional approach of applying keywords to search queries. I have designed, built and brought to market a number of innovative and commercially successful products to support drug discovery and clinical informatics. I am a serial entrepreneur with numerous patents and occasional angel investor specializing in informatics with a strong track record of building world-class companies, teams and products. I’d welcome your question on any of these topics above or to simply lend my experience and best practices for your professional development. AMA! My technical expertise is in: Hyper-combinatorial Multi-omics analytics Bioinformatics and Computational Biology Precision Medicine Semantic Search and Knowledge Graphs Artificial intelligence (AI) and Data Science Software-as-a-Service (SaaS) Internet of Things (IoT)