Category Archives: Genetics

Amazon.com: Genetics For Dummies (8601400110126): Robinson …

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Genetics – HMX | Harvard Medical School

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

Genetics | Science News

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 linked with onset, progression of POAG – Modern Retina

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

Is It Too Late to Buy Shares of Seattle Genetics? – Motley Fool

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

On National DNA Day, scientists are trying to take the colonialism out of genetics – Massive Science

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

Meghan Trainor shows her work in behind the scenes video of "Genetics" performance with Nicole Scherzinger of – LaineyGossip

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

Genetic variants linked with onset, progression of POAG – Ophthalmology Times

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 - Ophthalmology Times

Scientists use genetics to study how the world’s three narwhal populations are affected by climate shifts – The Narwhal

If you want to learn about your ancestry, you can spit into a test-tube and retrieve your DNA results a month later online.

Scientists seeking to learn about the genetics of the narwhal had to use more elaborate methods to gather DNA samples of the deep-diving whale that lives in the ice-cold waters of the Arctic.

Hoping to unravel the demographic history of the narwhal, often called the unicorn of the sea, the scientists collected narwhal tissue samples from Inuit hunters in Canadas far north and Greenland, and tested narwhal remains from archeological digs in northern Europe and Russia.

They even got permission to take samples of narwhal tusks from the King of Denmarks throne chair, made from Norwegian narwhal tusks and guarded by three life-sized silver lions with manes of real gold.

They had special access to be able to drill little tiny bits of tusk from that throne, said Steven Ferguson, an Arctic marine mammal research scientist with Fisheries and Oceans Canada.

Ferguson is one of 15 co-authors of a study, published on April 21 by the Proceedings of the Royal Society B: Biological Sciences, that helps unwind a little bit more of the mystery and mystique surrounding the narwhal, a close relative of the beluga whale.

Until recently, little was known about the light-coloured cetacean most commonly recognized for its spiralled tusk a tooth extending through its upper lip. Only in 2017 did scientists discover the narwhal uses its tusk, a sensory device, to smack fish before swallowing them.

Using a combination of genetics and habitat modelling, Ferguson and other scientists investigated how past climatic shifts affected the distribution of the narwhal, one of the Arctic species most vulnerable to climate change.

They discovered low levels of genetic diversity among the worlds three narwhal populations, the two largest of which are found in Canada.

The scientists also found that habitat availability has been critical to the success of narwhals over the past tens of thousands of years, raising concerns about the fate of the migratory whale in a rapidly warming Arctic.

There are approximately 200,000 narwhals in the world.

Populations are named for where they summer. The vast majority of narwhals are found in Canada, in two groups known as the Baffin Bay and Hudsons Bay populations. A third population, numbering about 10,000 animals, is found in Greenland, extending to Svalbard an island between Norway and the North Pole and as far as Russia.

Its pretty remarkable that Canada has this resource but its also a lot of responsibility, said Ferguson, who worked with Inuit hunters to gather tissue samples for the study.

We are the ones who are going to have to manage and conserve this species going forward into the future.

DFO scientist Steve Ferguson in the field, conducting research on the worlds narwhal populations. Photo: Steve Ferguson

Narwhals appear only to have ever been an Atlantic species, and all three populations are closely related. Researchers found narwhals have one of the lowest genetic diversities of all marine mammals.

I still dont think weve quite solved that puzzle as to why it is so low, Ferguson said in an interview. Maybe there was some kind of bottleneck way back in the past. This history thats been explained by the genomic study here hasnt really found a good explanation for that.

The study found a long-term, low overall population size that increased when suitable habitat expanded following the last Ice Age. Like other polar marine predators, narwhal populations contracted into smaller areas during the last glaciation.

Its a bit of a mystery as to how fragmented they might have been, Ferguson said.

The study also looked into the future, forecasting what impact global warming might have on populations.

Researchers estimated a 25 per cent decline in habitat suitability by 2100, with a 1.6 degrees northward shift in habitat availability, suggesting narwhal habitat is likely to contract as sea temperatures rise and sea ice continues to melt.

The genetic ghost hunters

Ferguson said there will be a slight decrease in populations, including in the east Greenland group.

Narwhal distribution will be further affected in the near future by increased human encroachment, changes in prey availability, new competitors and increased predation by killer whales, according to the study.

More open water is good for narwhals to some extent, Ferguson said. But they will have competitors and disease and problems coming from the south [and] thats going to continue to push them further north.

Much depends on narwhals having access to the habitat they need to thrive, he said.

Baffin Bay seems to be a perfect spot for them right now, at least in winter. Theyre really deep diving animals, well adapted to diving to extreme depths, up to 2 kilometres. Baffin Bay allows them to do that and has some really good food.

All other Arctic marine mammals are circumpolar, meaning they are found around the world.

But narwhal are unique, Ferguson said. They really seem to have this Atlantic Ocean habitat. So theres an open question as to what might happen as we continue to lose sea ice.

The Arctic is warming at an unprecedented rate. A new study, published in Geophysical Research Letters, predicts summer Arctic sea ice will disappear before 2050, with devastating consequences for the Arctic ecosystem.

Narwhals most vulnerable to increased shipping in Arctic

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Scientists use genetics to study how the world's three narwhal populations are affected by climate shifts - The Narwhal