Regarding: Should genetics now be considered the pre-eminent etiologic factor in endometriosis? Journal of Minimally Invasive Gynecology
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Regarding: Should genetics now be considered the pre-eminent etiologic factor in endometriosis? - Journal of Minimally Invasive Gynecology
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Amazon.com: Genetics For Dummies (8601400110126): Robinson ...
Learn about the building blocks of life and the future of medicine.
The way we diagnose and treat diseases is changing, with new technologies enabled by a deeper understanding of the human genome and its relationship to health and disease.
In HMX Fundamentals Genetics, youll get an overview of key concepts behind the evolving fields of human genetics, genomics, and precision medicine.
Overview
The Central Dogma and Genetic Variation
Mendelian Inheritance of Disease
Identifying Mendelian Disease Genes
Chromosomal Aberrations
The Genetics of Cancer
Common Complex Traits
Human Population Genetics
Beyond the Genome Sequence
Genetics and Precision Medicine
Lecturer in Genetics, Harvard Medical School
As DNA sequencing becomes cheaper and more readily available, the role of genetics in medicine is expanding. With our increasing understanding of the variation in the human genome, we can start to predict how specific changes in DNA sequence will affect an individuals health. Human genetics is extremely complicated, but it is apparent that many human diseases are influenced by genetics. From a medical perspective, this includes everything from rare DNA sequence variants that drastically increase risk of a disease, to common variants that lead to small changes in risk.
Historically, genetics specialists have helped patients to navigate these situations, but genetics is beginning to permeate medicine as a whole. This means that health care professionals across many fields are faced with new questions. When do you recommend genetic testing to a patient? What kind of testing will provide the most conclusive results? How do you help the patient to understand those results, and use them to make decisions about his or her care? Moving forward, an understanding of the principles of genetics and an ability to apply them in todays medical landscape will be an enormous asset for any health care professional.
Even outside of medicine, genetics has a very important presence in our world today, so, fundamentally, what I would like students to take away from this course is a level of genetic literacy that will allow them to navigate the questions and decisions that they will face in their own lives.
Direct-to-consumer genetic testing now allows everyone to learn about their own genetics; these tests can potentially include information about health and disease risk and ancestry that have significant impacts for individuals and their families. When making decisions about genetic testing, it is important to be informed about exactly what you will learn and what the consequences of the results might be down the line.In this course, we put the fundamental principles of human genetics into the context of the world today, which will provide students with the tools and resources to ask the right questions and make informed genetic decisions.
Professor of Medicine, Harvard Medical SchoolAssociate Physician, Brigham and Womens HospitalGeneticist, Brigham and Womens HospitalDirector, Genomes2People Research Program at Brigham and Womens Hospital
Genomics is inherently exciting, and you can see that because of its relationship to forensic law enforcement, reproduction, ancestry, cancer and all sorts of medical developments, and all of the controversy related to direct-to-consumer genetic testing.
The skeleton of genetics is sequencing, and people are building on that with gene expression, proteomics, metabolomics. So there are multiple layers of knowledge and exploration that are generating tremendous excitement in the world, and motivating enormous investment scientifically, educationally, financially, and entrepreneurially. So the question isnt really why Im interested in genomics, the question is why isnt everybody interested in genomics because its so fabulously interesting.
Senior Genetic Counselor and Project Manager, Brigham & Womens Hospital
Genetics is really a subspecialty of all specialties. The more we understand the genetic basis of biology, the more we will understand human health and disease. Having a strong background in genetics will be important as genomic technologies continue to expand and are implemented more and more into clinical care. Understanding how to look for patterns of disease and when to refer a patient to other specialists is an important tool for every health care provider, and as more patients have genetic results in their medical records, having the ability to understand how this is or is not important to your patients medical care will be of the utmost importance. Overall a global knowledge of genetics will help you to provide better care to your future patients.
I hope students are able to grasp some of the basic concepts about genetics and to understand why it is a vital part of medical care. I hope that this background knowledge will be useful to them if and when they care for patients who come to them with a genetic test result, a family history of genetic disease or a presenting genetic diagnosis. I hope this course excites them about the concept of genetics and genomics and encourages them to want to learn more as their career progresses.
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Genetics - HMX | Harvard Medical School
Science News was founded in 1921 as an independent, nonprofit source of accurate information on the latest news of science, medicine and technology. Today, our mission remains the same: to empower people to evaluate the news and the world around them. It is published by Society for Science & the Public, a nonprofit 501(c)(3) membership organization dedicated to public engagement in scientific research and education.
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Genetics | Science News
Genetic variants that are unrelated to the IOP are associated with a family history of glaucoma and play a role in the onset of primary open-angle glaucoma (POAG). Genetic variants that are related to the IOP are associated with the age at which glaucoma is diagnosed and are associated with disease progression.
What is known about POAG, the most prevalent form of glaucoma, is that increased IOP and myopia are risk factors for damage to the optic nerve in POAG.
Related: Stent offers IOP stability more than three years after surgery
A family history of glaucoma is a major risk factor for development of POAG, in light of which, therefore, genetic factors are thought to be important in the disease pathogenesis and a few genes mutations have been identified as causing POAG, according to Fumihiko Mabuchi, MD, PhD, professor, Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Kofu, Japan.
Myopia has been shown to be a risk factor for POAG in several studies. However, it can be difficult to diagnose true POAG in myopic patients and controversy exists over whether it is real risk factor.
Myopic optic discs are notoriously difficult to assess, and myopic patients may have visual field defects unrelated to any glaucomatous process.
The prevalence of POAG increases with age, even after compensating for the association between age and IOP.
Related: Preservative-free tafluprost/timolol lowers IOP well, glaucoma study shows
Part of the storyDr. Mabuchi and his and colleagues, recounted that these factors are only part of the story.
According to Dr. Mabuchi and his colleagues, cases of POAG caused by these gene mutations account for several percent of all POAG cases, and most POAG is presumed to be a polygenic disease.
Recent genetic analyses, the investigators explained, have reported genetic variants that predispose patients to development of POAG and the additive effect of these variants on POAG, which are classified as two types.
The first genetics variants are associated with IOP elevation.
Related: Sustained-release implant offers long-term IOP control, preserved visual function
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Genetic variants linked with onset, progression of POAG - Modern Retina
As the overall market declined amid the coronavirus outbreak, Seattle Genetics (NASDAQ:SGEN) shares resisted, climbing22% since the start of this year. The reason is simple: It's all about products. Seattle Genetics started the year with a newly approved drug -- Padcev, for the most common form of bladder cancer -- and investors were hopeful the U.S. Food and Drug Administration would soon approve the company's breast cancer drug, tucatinib, to be commercialized as Tukysa. Last week, that approval came -- four months earlier than expected.
Now the question is: Can Seattle Genetics move higher, or is the good news priced into the shares at this point? A look at approved treatments and market sizes can offer us some clues.
Image source: Getty Images.
Just a year ago, Seattle Genetics was a one-product company. That product -- Adcetris, for Hodgkin lymphoma -- had a particularly strong 2019 thanks to label expansions, posting a 32% increase in net salesto $627.7 million in the U.S. and Canada. Now, Seattle Genetics forecasts a slowdown in Adcetris' sales for 2020, with an increase in the range of 8% to 12%. Still, long-term growth isn't necessarily over for Adcetris as the company works to establishthe treatment as the standard of care in Hodgkin lymphoma and expand its uses.
A slowdown in growth for Adcetris is also less of a concern given the approvals of Padcev in December and Tukysa more recently, though it will take several quarters before these drugs can truly contribute to revenue. My eyes will be on Seattle Genetics' earnings reportApril 30 to see how Padcev fared during its first full quarter on the market.
Padcev is a treatmentfor locally advanced or metastatic urothelial (bladder) cancer. The approval pertains to adult patients who have previously been treated with both platinum-based chemotherapy and inhibitors of proteins that help cancer cells survive. The FDA recently granteda breakthrough therapy designation for an additional use, and after discussions with the regulatory body, Seattle Genetics is optimistic about a potential accelerated approval registration. That would be for the use of Padcev along with an immune therapy called pembrolizumab as a first-line treatment for patients with advanced forms of urothelial cancer who can't receive chemotherapy treatments that use a common treatment called cisplatin.
If sales predictions are correct, Padcev may be poised to be a blockbuster. Analysts from SVB Leerink Research predict peak sales of more than $5 billion, according to press reports. And according to Grand View Research, the global urothelial cancer drug market will reach $3.6 billion by 2023, with a compounded annual growth rate of 23%.
Tukysa might be another blockbuster opportunity. SVB Leerink expectsthat drug to generate peak sales of $1.2 billion by 2030. Tukysa is approvedin combination with trastuzumab and capecitabine for advanced or metastatic HER2-positive breast cancer. In HER2-positive breast cancer, high levels of the HER2 protein within tumors lead to the spread of cancer cells. Tukysa inhibits enzymes that activate this type of protein. A GlobalData report shows the market for HER2-positive breast cancer is set to increase 54% to $9.89 billion by 2025 from 2015.
Seattle Genetics also has about 15 programs in phase 1 or phase 2 trials among its pipeline, adding to future revenue prospects.
Seattle Genetics has steadily grown its revenuesince 2011, when Adcetris was first approved. The company's net lossnarrowed last year to $158.7 million from $222.7 million in 2018, and after fiveconsecutive quarterly losses, Seattle Genetics posted a profit in the last quarter of 2019. The company also reported an increase in cash levels, starting this year with $868.3 million in cashand investments compared with $459.9 milliona year earlier. The financial picture is brightening for Seattle Genetics, and the additions of Padcev and Tukysa should give it a further boost.
So, is it too late to buy Seattle Genetics stock? No. Though the shares only have to rise5.5% to reach Wall Street's average price estimate, for the long-term biotech investor, there is more to gain as the newly approved drugs begin adding to the company's revenue.
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Is It Too Late to Buy Shares of Seattle Genetics? - Motley Fool
Scientists are trying to tackle the lack of diversity seen in genomics research, but even ambitious efforts, like the NIHs All of Us program, often fall short, especially when it comes to the inclusion of Indigenous communities. This is one of the reasons why the Decolonize DNA Day conference is taking place on April 24th, one day before the National DNA Day.
Traditionally, National DNA Day is an annual celebration of the discovery of DNA's double helix structure (1953) and the completion of the Human Genome Project (2003).
I was having conversations with colleagues on what would it mean to decolonize DNA, says Krystal Tsosie, an Indigenous (Din/Navajo) PhD student at Vanderbilt University. As an Indigenous academic, we always talk about what it means to Indigenize and re-Indigenize different disciplines of academia that have been historically more white-centred or white-dominated... and what it would mean to remove the colonial lens.
In collaboration with Latrice Landry and Jerome de Groot, Tsosie co-organized the Decolonize DNA Day Twitter conference to help re-frame narratives around DNA. Each speaker will have an hour to tweet out their "talk" and lead conversations on various topics, including how DNA ancestry testing fuels anti-Indigeneity and how to utilize emerging technologies to decolonize precision medicine.
There is a divide between people who are doing the science or the academic work, and the people who we want to inform, says Tsosie. Twitter is a great way to bridge that divide.
The Decolonize DNA Day conference is simply one effort to Indigenize genomics. Tsosie is also a co-founder of the Native BioData Consortium, a non-profit organization consisting of researchers and Indigenous members of tribal communities, focused on increasing the understanding of Native American genomic issues.
We dont really see a heavy amount of Indigenous engagement in genetic studies, which then means that as precision medicine advances as a whole [] those innovations are not going to be applied to Indigenous people, says Tsosie. How do we get more Indigenous people engaged?
Some of the answers can be found in a recent Nature Reviews Genetics perspective, penned by Indigenous scientists and communities, including those from the Native BioData Consortium. The piece highlights the actions that genomics researchers can take to address issues of trust, accountability, and equity. Recommended actions include the need for early consultations, developing benefit-sharing agreements, and appropriately crediting community support in any academic publications.
By switching power dynamics, were hoping to get genomic researchers to work with us, instead of against us, says Tsosie.
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On National DNA Day, scientists are trying to take the colonialism out of genetics - Massive Science
Like everyone else, Im consuming everything in sight these days, because what else are we going to do, really; but also like everyone else (I suspect) Im using the time either to catch up on series I heard I should have watched, or to be pulled into whatever Netflix serves me up.
Then the other day, @ceas89 sent us a video on Twitter, and I was enthralled and also ashamed. Enthralled because it was amazing; ashamed because before now, I didnt know. The video is a behind the scenes of Trainors song Genetics, featuring Nicole Scherzinger of the Pussycat Dolls, and before I clicked, I read the tweet, which said, can you please talk about the work happening in this video? So, I played it (skip to 0:30 to really get to the goods):
The song was released in September 2019, but Meghan posted it just a couple of weeks ago. And, as @ceas89 predicted, I watched it over and over, because its incredible. And Ill confess, I didnt know this work was gonna be here. I love that theyre recording in an apartment or bungalow of some kind weve seen this kind of video before, but often in a blank, black studio. Somehow I felt more welcomed into the room in this video, which is a cool trick.
But its the dynamics of this that I love most.
Meghan starts off complimenting Nicole, in a way that might seem self-deprecating. I have the voice to record, I just dont have the dance moves to dance. Initially I was sort of frustrated with that, because I felt like the Meghan Trainor doesnt have the right body for the music industry narrative is boring, played out, and also, its patently not true. Ask Lizzo.
But as the rest of the video unfolds, its clear that what shes doing is actually trying to build Nicole up. Because its Meghans song, and she knows how it needs to go, while Nicole is anxiously trying to do her best, but is aware, maybe, that shes not *quite* nailing it. We dont see the takes where she doesnt get her vocals to where they need to be, but her affect and the way she looks at Meghan for reassurance makes it clear.
Trainor builds her up, over and over again, Oh-my-God-ing over Nicoles vocals, but also clearly directing her: what kind of tone, what kind of dynamic. Even from her slumped position on the couch shes commanding, as she tells Nicole sing with me, until its clear that Nicole has gotten it right. Wait she directs Nicole during a vocal run, and then, never missing a beat, reminds her, Its a quick but here.
Then look what happens at 2:41. Meghan lays down some vocals, and Nicole, stunned, comments, Wow, she just does it in one take and then puts her head in her hands. As @ceas89 put it, Nicole is legitimately shook, and its true. Its so easy for you, she comments to Meghan, who laughs. No self-deprecation this time
Because its clearly true. Its easy for Meghan. Its easy for her and necessary for her to tell Nicole how the song needs to be done, because she wrote it. Did you know Meghan Trainor wrote songs? I mean, I guess I assumed she wrote her own songs, but I didnt know shed also written songs for Jason Derulo, Jason Mraz, Faith Hill and Tim McGraw, Michael Bubl, and Jennifer Lopez.
I didnt know. Not really. And I should have.
I loved All About The Bass like everyone else, but as much as I appreciated the retro-bop style, I didnt love the messaging about what boys need, and the follow-ups of Dear Future Husband and Lips Are Moving seemed so retro that I lost interest. Not that Trainor cares her career has been incredibly successful whether or not I like her messaging or packaging or not.
But lets be real: I underestimated Meghan Trainor, maybe because of how she was marketed. I saw her as a gimmicky artist and look, her image does have inherent gimmick-ness to it but I let it cloud me to the phenomenal talent thats gotten her this far, and Im mad at myself for doing it. Why do talented people have to have a certain image? If she was in plaid button-downs and less lipstick in her videos, would I have seen it more? If there were more videos like this out there alongside her cutesy finger-wagging videos?
Im not saying we have to like everyone, and there are millions of talented people, and entire genres of entertainment that are just not for me, the same way some people cant abide musicals, or animation, or non-fiction. But this video was a reminder that even though I think I see through all kinds of showbiz packaging, the stuff I really value hard work, genius-level talent, industry respect is totally separate from the packaging and marketing of an artist, and I let this one slip by me before now. Thank you, @ceas89, for the education.
Whose talent do you think everyone else is sleeping on? (No, Lainey, BTS does not apply here.) Is there someone youve discovered recently, since consuming entertainment has become our collective new job? Do you have a method for exposing yourself to new stuff so you dont make snap judgments like I did? Theres nothing I love more than a celebrity surprise, so if theres someone I, or all of us, should know, hit us up. A new discovery is a delightful comfort and joy right now.
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Meghan Trainor shows her work in behind the scenes video of "Genetics" performance with Nicole Scherzinger of - LaineyGossip
Administrative affairs | For UW employees | Honors and awards | News releases | UW and the community
April 23, 2020
Three University of Washington faculty members, including President Ana Mari Cauce, are among the 2020 fellows of the American Academy of Arts and Sciences, one of the nations oldest and most prestigious honorary societies. Trisha Davis, professor and chair of biochemistry at the UW School of Medicine, and Tatiana Toro, the Craig McKibben and Sarah Merner Professor of Mathematics, are also among the 276 artists, scholars, scientists, and leaders in the public, non-profit and private sectors who were announced as new fellows Thursday.
We congratulate these incoming members of the Academy for excelling in a broad array of fields; we want to celebrate them and learn from them, said Nancy C. Andrews, chair of the Board of Directors of the American Academy. When Academy members come together, bringing their expertise and insights to our work, they help develop new insights and potential solutions for some of the most complex challenges we face.
Cauce who was named to the Educational and Academic Leadership section of the Academys Public Affairs, Business and Administration class became the 33rd president of the UW on Oct. 13, 2015 after serving as interim president for seven months and having previously served as provost and executive vice president.
Throughout her career, Cauce has championed access to higher education, including through the Husky Promise, which provides full tuition to eligible Washington students who otherwise could not attend college. As part of her strong belief in ensuring access to higher education for all, just one month into her role as interim president she engaged students in an honest discussion about race and equity, launching an effort to create a more just and diverse community.
Cauce is a professor of Psychology and American Ethnic Studies, with secondary appointments in the Department of Gender, Women and Sexuality Studies and the College of Education. She maintains an active research program, focusing on adolescent development, with a special emphasis on at-risk youth. She is also a strong advocate for women and underrepresented minorities to pursue careers in science, technology, engineering and mathematics.
Davis was named to the Cellular and Developmental Biology (including Genetics), Microbiology and Immunology Section of the Biological Sciences Class of the Academy. Davis and her colleagues explore the dynamics of the chromosome capture that occurs in preparation for cell division.
Impressive molecular machinery tries to assure that each cell resulting from the split receives a proper set of chromosomes. Mistakes in sorting, separating and distributing the chromosomes could cause serious problems, such as cancer. Davis team looks at how the movement and segregation of chromosomes is orchestrated. This chromosome assembly is trial and error, but cells usually can find and fix mistakes. As chromosomes attach to the separation machinery, checkpoints tune into to the connection and the tension it produces. If this quality assurance detects that a chromosome is incorrectly captured, it is released for another try.
The Davis lab uses many ways of examining this and related controls. These include genetic analysis, proteomics, quantitative microscopy, computational modeling and biochemical assays.
Davis holds the Earl W. Davie/ZymoGenetics Chair in Biochemistry at UW Medicine. She also heads the UWs Yeast Resource Center, funded by the National Institutes of Health to develop technologies for exploring protein structure and function.
Toro was named to the Mathematics, Applied Mathematics and Statistics section of the Academys Mathematical and Physical Sciences class. Her research centers on the premise that objects, which may at first appear irregular or disordered, actually have regular features that are quantifiable. Toros work spans geometric measure theory, harmonic analysis and partial differential equations. Toro studies the mathematical questions that come up in systems where the known data are rough, as well as interfaces that arise in noisy minimization problems.
In addition to her research, Toro has also worked to increase diversity in mathematics. She helped launch Latinx in the Mathematical Sciences, including two conferences through the National Science Foundation highlighting the achievements of Latinx mathematicians.
Toro joined the UW faculty in 1996 and her career includes numerous honors and accolades. Last year, she received the UWs Marsha L. Landolt Distinguished Graduate Mentor Award. In 2017, she was elected as a Fellow of the American Mathematical Society. Toro has also been a Guggenheim Fellow, an Alfred P. Sloan Research Fellow and a Simons Foundation Fellow.
Founded in 1780, the American Academy of Arts and Sciences is one of the countrys oldest learned societies and independent policy research centers, convening leaders from the academic, business and government sectors to respond to the challenges facing the nation and the world.
The new members join the company of Academy members elected before them, including Benjamin Franklin and Alexander Hamilton in the eighteenth century; Ralph Waldo Emerson and Maria Mitchell in the nineteenth; and Robert Frost, Martha Graham, Margaret Mead, Milton Friedman, and Martin Luther King, Jr. in the twentieth.
Learn more about the Academys mission, members, and work on its website amacad.org.
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UW president, biochemistry chair and mathematics professor named to American Academy of Arts and Sciences - UW News
In Global Veterinary Biochemistry Analyzers Market Research Report, the study analysis was given on a worldwide scale, for instance, present and traditional Veterinary Biochemistry Analyzers growth analysis, competitive analysis, and also the growth prospects of the central regions. The report gives an exhaustive investigation of this market provides an analysis of the industry trends in each of the sub-segments, from sales, revenue and consumption. A quantitative and qualitative analysis of the main players in Global and country level is introduced, from the perspective of sales, revenue and price.
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North America (U.S., Canada, Mexico)Europe (Germany, U.K., France, Italy, Russia, Spain etc.)Asia-Pacific (China, India, Japan, Southeast Asia etc.)South America (Brazil, Argentina etc.)Middle East & Africa (Saudi Arabia, South Africa etc.)
At the upcoming section, this report discusses industrial policy, economic environment, in addition cost structures of the industry. And this report encompasses the fundamental dynamics of the market which include drivers, opportunities, and challenges faced by the industry. Additionally, this report showed a keen market study of the main consumers, raw material manufacturers and distributors, etc.
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Table of Content1 Industry Overview2 Industry Environment (PEST Analysis)3 Veterinary Biochemistry Analyzers Market by Type4 Major Companies List5 Market Competition6 Demand by End Market7 Region Operation8 Marketing & Price9 Research Conclusion
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