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Viewpoint: Greenpeace-funded study backfires, undermining case to treat gene-edited crops as GMOs – Genetic Literacy Project

Posted: October 13, 2020 at 7:56 pm

The anti-GMO movement dominated the public discourse about crop biotechnology for decades. Led by committed activists who knew how to manipulate the media, they effectively steamrolled a scientific community that wasnt ready for the PR war that Greenpeace and other NGOs launched against frankenfoods in the mid-1990s. Thirty years later, were beginning to see that dynamic shift as plant breeding technology improves and experts successfully defend it against activist attacks.

In August, John Fagan, organic food champion, biologist and Raja of World Peace in the Maharishi organization, led a Greenpeace-funded study claiming that gene-edited crops developed with new breeding techniques (NBTs) like CRISPR can be detected.

This may seem unimpressive to most people, but the result is a big deal to anti-GMO activists like Fagan. Gene-edited crops may be essentially identical to conventionally bred plants; the only difference is that gene editing dramatically speeds up the breeding process, saving time, money and getting enhanced seeds into farmers fields much more quickly than was previously possibleall without inserting foreign DNA into the crops genome. This is the primary distinction between gene editing and transgenesis (GMO in the vernacular).

These facts aside, European law treats gene-edited and GMO crops the same. Commercial cultivation of both is effectively banned in the EU (farmers have access to only one transgenic corn variety), though political pressure is building to reform Europes strict regulations. Anti-biotech groups have been on a campaign to block these reforms since July 2018, just after the European Court of Justice first ruled on crop gene editing. Fagans paper was the latest contribution to this effort. If gene-edited and conventional crops can be distinguished, the argument goes, then the former should be regulated as GMOs.

But theres a problema big one in fact: Fagans study actually demonstrated that its not possible to detect most gene-edited plants, therefore destroying the EUs justification for regulating them as GMOs. Its the perfect example of what we fondly call an own goal. And it illustrates how anti-science groups flog disinformation with the help of gullible journalists who stenograph their questionable claims for wide distribution.

Given the onslaught of disinformation we face in a post-COVID world, Fagans paper offers us the perfect opportunity to review the activist playbook and immunize ourselves against bad science and its harmful consequences.

As gene editing becomes an increasingly effective tool for improving agricultural production and reducing its environmental impacts, many countries (the US, Canada, Brazil, Argentina among dozens more) have split from the European Union (EU) on NBTs, exempting them from the expensive and exhausting regulations that govern GMO crops.

This is not only scientifically sound, its pragmatic. There is no way to detect gene edits in most cases. These changes look just like natural mutations found in wild plants, or the genetic changes induced by old-fashioned and EU-approved practices like bathing seeds in mutagens or irradiating them, or changes that occur in plants produced via tissue culture. The tests at our disposal cannotI repeat, cannotdistinguish mutations caused by any of these techniques.

This creates a problem for Food Purity Rajas and other opponents of biotechnology. If these gene-edited crops gain public acceptance and dont count as GMO, the organic industry will be at a competitive disadvantage. How could they justify a premium price for Non-GMO Project-certified corn flakes in those circumstances? Naturally, they have to challenge the efficacy and safety of gene editing to prevent such an outcome. Fear is their go-to currency in this effort, as John Fagan explained almost six years ago in a mailing list for anti-GMO campaigners, run by Claire Robinson of the activist website GM Watch. Its part of a long-term plan to make people fear all engineered food.

Fagan recently gave credit for Americas rejection of GMOs to transcendental meditation (TM), which caused a sharp increase in coherence in U.S. collective consciousness, when a large permanent group of TM practitioners was assembled in Iowa, USA. I havent seen the evidence for that, though Id be happy to take a look at the research if anyone can locate it. What is more likely, and supported by data, is that a long-term misinformation campaign made up of bad science and shock marketing scared parents everywhere into buying organic fruit snacks to avoid scary GMOs.

Down to the last detail, this tried and true activism strategy was deployed to influence the current discourse around gene editing. Besides his enthusiasm for TM, John Fagan also has training in molecular biology and operates a non-profit lab with the necessary testing capacity (incidentally, he also started a company that certifies products for the Non-GMO Project). Greenpeace, meanwhile, has an effective, stunt-based PR machine that can churn out multimedia presentations and widely read press releases, which sympathetic NGOs can dutifully amplify. But things didnt turn out as intended this time.

Its impossible to know which came first: the idea for a campaign to attack gene-edited crops, which needed supporting science, or a study in need of the PR muscle Greenpeace could leverage. Someday an intrepid investigative journalist might be able to work this out. But in any case, the outcome on September 7, 2020 was the release of a paper in the peer-reviewed journal Foods, which claimed to reveal a test that could uniquely and specifically detect the first commercial gene-edited crop, a variety of herbicide-resistant canola developed by the seed company Cibus. With a press release, media blitz, and slickly produced website, Greenpeace and other funders launched the #NowhereToHide campaign to promote Fagans paper and encourage EU regulators to treat this herbicide-tolerant canola as a GMO.

Similar to the guy who claimed he invented email, Fagans team implied they developed a new test to identify this crop. Thats not the case; the qPCR (polymerase chain reaction) method used in the study is well established for canola. Fagans novelty claim is therefore quite erroneous, as one scientist noted on Twitter. Nobody disputes that you can find point mutations, changes to a single DNA base pair, with qPCR. The key is that its impossible to determine if a variation is naturally occurring or purposefully induced. Many experts have pointed this out in response to the paper. The test would likewise detect herbicide-resistant plants that have been known to scientists and regulators since in 2002, from wild populations with that same mutation. Etienne Bucher, a plant geneticist based in Switzerland, tried to help Greenpeace grasp this:

But heres the kicker: this canola is not gene edited. It is a somaclonal mutation that was found in the screenings for an herbicide-tolerant variety, one of those changes that occurs in tissue culture. So what Fagans team has, in fact, definitively proved: they cannot detect edited canola this way. Additionally, it appears this rapeseed could be classified as non-GMO in Europe, since it was developed with one of the grandfathered techniques not subject to the onerous EU GMO approval process.

Own. Goal. Reminds me of the time anti-vaxxers commissioned research that confirmed vaccines do not cause autism.

Let the goal-post moving commence!

After the scientific community made quick work of Fagans study, Greenpeace and activists like Claire Robinson at GMWatch began furiously backpedaling. Maharishi TM trainer and geneticist Michael Antoniou told the anti-GMO website that the method they have developed reliably detects a single DNA base unit change, regardless of how it came about. But he went on to assert that EU regulators should still rely on this test to detect the canola variety. This makes absolutely no sense, as the German Central Committee for Biosafety experts observed [automated Google translation]:

The publication by Chhalliyil et al does not add any new knowledge to the current state of science and technology. Rather, it proves that it is not possible to distinguish genome-edited plants from plants with spontaneously occurring mutations. Without prior knowledge of the manufacturing process [my emphasis], no statement can be made as to whether or not it is a GMO within the meaning of the ECJ [European Court of Justice] ruling.

GM Watch agreed, though it fell back on a legal argument to excuse the studys weakness:

What the test cannot do is detect the technique by which a mutation was brought about but under EU law it doesnt need to. The way that the law deals with proof of origin for all GMOs products of gene editing included is to require the developer to declare that their product is a GMO and provide a test method and reference material.

In other words, if Cibus tells regulators its canola is gene edited, then regulators can determine if the canola is gene edited.

The media blitz around Fagans study was designed to promote organic food, but ironically enough, all this talk about identifying the source of mutations dredged up a potentially serious problem for the organic industry. In 2014, the USDAs National Organic Standards Board investigated what kinds of genetic modifications led to many of the key organic crops, only to realize how difficult it would be to classify breeding and laboratory mutations:

Exploring this issue has brought to the attention of the subcommittee that engineered genetic manipulation of plant breeding materials has already occurred in many of the crop varieties that are currently being used in organic farming. A partial list:

Many of these techniques that were used in initial crosses that have now passed down through many generations may not be traceable any longer

The board realized that many of the crops in organic production right now were the result of laboratory processes (genetic engineering, one could say) that are undetectable with molecular testing. Why is this significant? Well, a cynical scientist could use Fagans test to detect mutations in organic tangerines just as well as Cibus canola, demonstrating the inanity of labeling the tangerine non-GMO and the canola genetically engineered.

Bungled though it was, this parallel science PR stunt helpfully illustrated how disinformation can sow confusion and lead to nonsensical policy. For example, Greenpeace celebrated when an Austrian health minister declared that Fagans test should be used to enforce the EUs GMO rules. Well-known anti-crop biotech German politicians also eagerly embraced the results of the study. If people with so much influence over food safety rules in their countries can be fooled, you can see why junk science poses the risk it does.

Still, Greenpeace clearly lost this round. The activist-media juggernaut went down in flames before it could do too much damageand GM Watch spent most of September explaining away Fagans study in the face of intense expert scrutiny. Expect the anti-science crusaders to fall back on these same tactics in the future, because its all they know how to do. But look forward to the fact that there are now scientists, battle hardened by years in the social media trenches, ready to blow air horns the next time an NGO launches a scheme like this.

Mary Mangan holds a PhD in cell, molecular, and developmental biology from the University of Rochester. She co-founded OpenHelix, a company that provides awareness and training on open source genomics software tools. Follow her on Twitter @mem_somerville

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AGC Biologics Appoints Luca Alberici as the New General Manager/Site Head of the Milan, Italy Site – goskagit.com

Posted: October 13, 2020 at 7:56 pm

SEATTLE, Oct. 12, 2020 /PRNewswire/ --AGC Biologics, a leading global biopharmaceutical contract development and manufacturing organization (CDMO), has announced a new appointment to initiate integration efforts resulting from the July 31, 2020 acquisition of MolMed, a biotechnology company focused on research, development, production and clinical validation of cell and gene therapies for the treatment of cancer and rare diseases. Effective immediately, Luca Alberici will transition from Chief Business Officer of MolMed to take on the role of General Manager/Site Head at the Milan, Italy site.

Mr. Alberici will provide leadership and site management to ensure the continued execution of world-class cell and gene therapy contract development and manufacturing services from the Milan, Italy Site. He will support the continuous growth of the Site while working closely with colleagues in Seattle, Heidelberg and Chiba to ensure the business leverages and integrates AGC Biologics combined global capabilities.

"We are very happy to be able to appoint Mr. Alberici to General Manager/Site Head at the Milan, Italy site. He will ensure continuity in leadership at the Milan Site and he will be instrumental in further developing the capacity and capabilities of the site," said Kasper Moller, AGC Biologics Chief Technology Officer. "Mr. Alberici's track record within the Cell and Gene therapy field and his demonstrated leadership are great assets to our team and he will assure continued high performance of the Milan Site and development of the Cell and Gene Therapy area."

Mr. Alberici holds a PhD and Masters in cellular and molecular biology from Libera Universit Vita-Salute San Raffaele, in addition to a Master of Business Administration (MBA) from SDA Bocconi. His rich educational background is complemented by more than 14 years of industry expertise with strategic business development, licensing, project management and intellectual property for large molecule and specialty drug development and commercialization.

To learn more about the AGC Biologics global network of facilities, please visit: http://www.agcbio.com/.

About AGC Biologics

AGC Biologics is a leading global biopharmaceutical contract development and manufacturing organization (CDMO) committed to delivering a high standard of service to solve complex customer challenges. The company is driven by innovation and continuously invests in technologies to complement decades of proven expertise in drug development and manufacturing, including working through FDA, PDMA and EMA approvals. A range of customizable bioprocessing services includes development and manufacturing of mammalian and microbial-based therapeutic proteins, protein expression, plasmid DNA (pDNA) support, antibody drug development and conjugation, viral vector production, genetic engineering of cells, cell line development with a proprietary CHEF1 Expression System, cell banking and storage.

AGC Biologics employs more than 1,400 professionals worldwide who are dedicated to supporting customers at all phases of development through to commercialization, with critical expertise in process development, formulation, and analytical testing. The global service network boasts locations in the United States at Seattle, Washington and Boulder, Colorado; across Europe in Copenhagen, Denmark; Heidelberg, Germany; Milan and Bresso, Italy; and in Asia at Chiba, Japan.

Learn more at http://www.agcbiologics.com, or find us on LinkedIn at https://www.linkedin.com/company/agcbiologics/ and Twitter @agcbiologics.

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AGC Biologics Appoints Luca Alberici as the New General Manager/Site Head of the Milan, Italy Site - goskagit.com

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UVU researchers using $300k grant to find clues about cancer – THE REVIEW – UVU Review

Posted: October 13, 2020 at 7:56 pm

A UVU genetics lab has expanded research on pigeon feathers that may contribute to knowledge about human skin cancer, thanks to a grant from the National Institutes of Health.

The three-year grant of about $300,000 was awarded in August 2019 by the NIH, a government agency that funds biomedical research. The money pays for supplies and tests in a lab run by Eric Domyan, professor of biology and biotechnology.

[The grant] broadens what we are able to look at in our research a lot more, said Shannon Baker, a junior studying biotechnology who works in the lab.

The grant also pays for five student researcher positions. Alanys Benitez, a senior studying biotechnology, said her position on the research team is experience she can take with her after graduation.

The fact that Im able to work on research this early in my career is going to be really beneficial for opening doors later on, Benitez said.

Domyan and his students study feather color, which comes from two pigments red and black. Different amounts of each pigment lead to different colors.

The two pigments are also present in human skin. Everyone has both pigments, but the amounts vary from person to person. The pigments protect from sun damage, but black pigment does a better job. People who have more black pigment are less likely to get skin cancer after exposure to the sun.

Pigeons and humans have the same pigment-making genes, although they have different versions of them. Research on a pigeon gene could lead to a better understanding of the same gene in humans, including how it might increase susceptibility to cancer.

About fifteen students work on the project, which is one of two NIH-funded activities at UVU. Students in research labs, unlike lab classes, have no answer key or instruction manual.

Its helpful for me to figure out how experimental processes work more, because you need to come up with what youre doing, Baker said. Its not always just handed to you.

Benitez said, Theres a lot of disappointment sometimes. But when you get something right, you get the right answer for your question, its just the most amazing part of the job.

Most pigeons have black feathers, but some birds have difficulty making black pigment because they have a gene mutation. Those pigeons have red feathers instead. But feather color isnt determined by only one gene coloration is more complicated. Other genes must be involved, and Domyans team is trying to find those genes.

One year into the grant, the team has found genes that are more active in one color of feather than the other. But just because a gene is more active in a black feather than a red feather doesnt mean it contributes to color. The difference could be a coincidence. The next step is to sort out the coincidences from the genes that actually control pigment.

If you want to know what a gene does, you look at what goes wrong when you interfere with the function of that gene, Domyan said.

The researchers will use genetic engineering to mutate each gene in cells in petri dishes. The mutation will break the gene, so it cant do its job. If that job affects colors, the pigments in the cells will change.

At the end of the three years, Domyan hopes to use the teams findings to develop further questions about pigmentation and apply for another grant.

Scientific research on campus is especially important for international students like Benitez, who find it more difficult to get research internships outside of school because companies need to do extra paperwork. She appreciates all of these opportunities that UVU gives, not only to international students but also to students that come to UVU of different ages, she said. It really doesnt matter your background, I feel like all the scientific field is open to us.

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Microbiome Therapeutics: Global Markets – GlobeNewswire

Posted: October 13, 2020 at 7:56 pm

New York, Oct. 13, 2020 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Microbiome Therapeutics: Global Markets" - https://www.reportlinker.com/p05976892/?utm_source=GNW The report analyzes the market by segmenting it into the various types of microbiome therapeutics, based on the strategies used for treatment: additive (fecal matter transplants or FMTs, live biotherapeutic products or LBPs), modulatory (postbiotics, prebiotics) and subtractive microbiome therapeutics (phages and antimicrobials).

This study surveys the microbiome therapeutics market by application or disease segments: infectious diseases, metabolic diseases, cancer, gut-brain axis and others.The market is also assessed in the following geographic regions: North America, Europe and emerging markets.

Emerging markets include countries like India, China, Korea, Taiwan, Africa, Australia, New Zealand, Canada and Latin America.

The report features leading clinical trials indicating the status and phase of development. New developments and patents are boosting the growth of this market in the global context.

The new report provides comprehensive profiles of market players in the industry.The industry structure chapter focuses on the changing market trends, market players and their leading pipeline candidates.

This chapter also covers the mergers and acquisitions and any other collaborations or partnerships that happened during the evaluation period of this report that are expected to shape the industry.

Factors such as strengths, weaknesses, threats and opportunities that are expected to play a role in the microbiome therapeutics market are evaluated in detail.

Excluded from this report are the markets for prebiotics and probiotics labeled as nutritional or dietary supplements. Prebiotics and probiotics, if included, only pertain to when used in the context of microbiome therapy.

Report Includes: - 32 data tables and 47 additional tables - An in-depth overview of the global microbiome therapeutics market - Analyses of the global market trends, with data corresponding to market size for 2021-2025, and projections of compound annual growth rates (CAGRs) through 2026 - Latest information on market drivers and opportunities, challenges and restraints, technological developments, and regulatory updates, along with their impact on the stakeholders in this market - Evaluation of market potential for microbiome therapeutics market, their market share analysis on the basis of product types, applications, and regions - Highlights of this innovation driven microbiome therapeutics market covering current trends, disease areas of application, clinical trials and their stages, and new developments - Impact of COVID-19 pandemic on the global economy and delay in the clinical trial activity and financial effects on the overall growth of this market - Competitive landscape of this market featuring leading biopharmaceutical companies, their products pipeline and company share analysis - Key merger and acquisition deals, collaborations and partnerships, licensing and manufacturing agreements, and other notable investment strategies within this market - Patent review and deep-dive of the issued patents on the basis of categories such as type, year, disease type, company, country, and assignee - Profile description of the major market participants, including Azitra Inc., Evelo Biosciences, LNC Therapeutics, Second Genome and Vedanta Biosciences Inc.

Summary: The microbiome has become a buzz word and attracted millions of dollars in federal grants, awards and funding from venture capitalists. Technological advances in next-generation sequencing and data analytics clubbed with modern approaches of systems biology and genetic engineering have greatly expanded the knowledge of commensal microbial populations and their interactions with the human hosts.

The Human Microbiome Project (HMP), MetaHIT and other independent efforts fueling the exploration of microbiome and its association with human health have led to a research explosion in this area in the last decade.Myriad of studies abound that show that microbiome has a role in mediating many physiological processes such as metabolism, nutrition and immunity.

It has been observed in many clinical studies that alterations in the microbial populations or microbial dysbiosis can lead to diseases. As such, modulations of the microbiome such that its normal condition is restored or pathogenic bacteria is eliminated have become potential strategies to address many unmet medical needs. Diseases that still do not have any definitive cure, or available treatments are either not satisfactory or costprohibitive, are being actively targeted as treatment indications by microbiome therapeutics.

There are many active players in the field of microbiome therapeutics, ranging from discovery and clinical-stage to late-stage companies that are exploiting different approaches to modulate the microbiome.Although fecal microbial transplants (FMTs) have been in practice for some time, the use of live biotherapeutic products (LBPs) in the form of single strains or microbial consortia is becoming a widely popular strategy due to targeted mechanisms and controlled production processes.

The development of small molecule drugs (postbiotics) and use of phages are also being actively explored.

Currently, no microbiome therapeutic has been approved in the U.S. or in any other market. There are some candidates in Phase 3 trials, such as Seres Therapeutics SER109 and Rebiotixs RBX2660 that are being evaluated for the treatment of recurrent Clostridium difficile infection. Despite an expansive patent portfolio and a large number of clinical trials in the field of microbiome therapeutics, the market is facing some challenges. The absence of any regulatory framework has created an uncertain situation for many developers in this novel market. The complexity of the human microbiome and variations among different individuals add to the difficulties in the design of clinical trials. Additionally, hurdles are expected during the scaling-up of processes and proving the functional aspects of these drugs.

For the microbiome therapeutics market to grow, a strong collaborative effort is needed from all stakeholders, including the regulatory agencies. Statistically relevant results and proof-of-concept studies driven by technological advances in biomarkers, functional assays, and computational biology are required that will eventually pave the way for product approvals.Read the full report: https://www.reportlinker.com/p05976892/?utm_source=GNW

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

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Who won this years Nobel science prizes? – The Economist

Posted: October 13, 2020 at 7:56 pm

Oct 8th 2020

OCTOBERS FIRST week is a nervous time for scientists with serious accomplishments under their beltsfor this is when the phone might ring from Stockholm. Those who give out the Nobel science prizes (the Karolinska Institute for the physiology or medicine award, and Swedens Royal Academy of Science for the awards in physics and chemistry) are known neither for offering the winners more than an hour or twos notice of the public announcement of their success, nor for respecting time zones. New laureates in North America receive the news in the dead of night. That, though, is normally reckoned a small price to pay for what is still seen as sciences most prestigious honour.

Britain being in a more convenient time zone from the Swedish point of view, Sir Roger Penrose, of Oxford University, was not actually asleep when his own phone rang. But he was, he says, in the shower. He was one of three winners of the physics prize, the others being Andrea Ghez and Reinhard Genzel, of the University of Californias Los Angeles and Berkeley campuses respectively. Their prize was for the theoretical explanation and subsequent discovery of some of the strangest objects in the universe: black holes.

Black holes are, famously, so dense that nothing, not even light, can escape their immense gravitational pull. A black holes centre is thought to be a point of infinite density, called a singularity, where the known laws of physics break down. Though the possibility that they existed was hypothesised a century ago, as a consequence of Einsteins general theory of relativity (which is actually a theory of how gravity shapes the structure and contents of the universe), early work suggested that they could form only from the collapse of perfectly symmetrical stars or gas clouds. That is hardly realistic, and Einstein himself doubted that they actually existed.

They therefore remained a theoretical curiosity until 1965, when an as-yet-unknighted Dr Penrose worked out the specifics of how real matter could collapse in a way that would form one. He showed, using a mathematical concept which he called a trapped surface, that even asymmetric, clumpy stars and dust clouds could become black holes. This work provided the tools needed by observational astronomers to go out hunting for them.

By definition, it is impossible to see a black hole directly. Instead, physicists glean insights into them by studying the effect of their gravity on the motion of their stellar neighbours. Dr Ghez and Dr Genzel used this idea to gather evidence that Sagittarius A*a bright source of radio waves at the centre of the Milky Way, Earths home galaxyis actually a supermassive black hole around which all the stars in the galaxy, the Sun included, orbit.

Dr Ghez and her team employed the Keck Observatory telescope, in Hawaii, with its ten-metre-wide primary mirror, to make their observations. Dr Genzels group used a series of eight-metre-wide telescopes high in the mountains of the Atacama desert, in Chile, for theirs. These instruments were all sensitive enough to peer through the clouds of dust that otherwise obscure the heart of the Milky Way.

Over three decades both sets of researchers, working independently, tracked around 30 of the brightest stars at the galactic centre (see chart). A star called S2, for example, takes 16 years to complete an orbit of Sagittarius A*, and, at its closest approach, comes within 17 light-hours of it. These measurements have permitted astronomers to piece together a picture of Sagittarius A* as a black hole of around 4m solar masses, packed into a region of space that is about the size of the solar system.

April 2019 saw the release of the first-ever image of a black hole (Sagittarius A*s local equivalent at the centre of a galaxy called M87, 53m light-years from Earth). This was taken, in radio frequencies, using the Event Horizon Telescope, a collaboration that links eight existing radio telescopes all around Earth and thus permits far higher resolution than any single instrument could manage. As technology improves, the Event Horizon Telescope could also one day provide a more detailed image of the region around Sagittarius A*.

As is often the way, the chemistry prize went for a discovery that might equally well have been handed out for medicineCRISPR-Cas9 gene editing. The winners were Emmanuelle Charpentier of the Max Planck unit for the science of pathogens, in Berlin, and Jennifer Doudna of the University of California, Berkeley.

CRISPR-Cas9 is derived from a bacterial defence mechanism that snips small sequences of DNA from viral interlopers and copies them into a bacteriums own genome, thus creating a scrapbook by which to recognise such aggressors, should they come again. The laureates prize is not, though, for the mere discovery of a novel bacterial immune system. It is for the adaptation of that discovery into the most important gene-editing tool yet inventedone that is already helping to design disease-resistant crops and new therapies for cancer, and which may, perhaps, end hereditary disease in human beings.

If an organisms collective DNA can be thought of as the book of its life, CRISPR-Cas9 allows for any specific sequence of words within that book to be identified, selected, removed and replaced. This is done by creating a molecule called a guide RNA, which matches a target DNA sequence, and pairing it with an enzyme, Cas9, that is capable of snipping the DNA helix at this point. Then, if so desired, a new piece of DNA can be inserted.

The laureates path to Stockholm began at a caf in Puerto Rico in 2011. That was when Dr Charpentier, who had discovered intriguing and unexplained RNA fragments in a bacterium, engineered a meeting with Dr Doudna, an expert in the DNA-snipping capability of Cas proteins. Since this collaboration bore fruit in 2012, progress has been rapid. By February 2013 Feng Zhang of the Broad Institute in Cambridge, Massachusetts and George Church of Harvard Medical School had independently demonstrated the techniques effectiveness in mouse and human genomes, paving the way for the treatment of human diseases. Clinical trials are now under way to test its power against sickle-cell anaemia and certain cancers, with animal experiments showing promising results in the treatment of muscular dystrophy.

There has also been controversy. In 2018 He Jiankui of the Southern University of Science and Technology, in Shenzhen, China, announced the birth of twin girls whose embryos he had edited with the help of CRISPR-Cas9. Dr Hes stated goal was to induce immunity to HIV, by disabling the gene for a protein which that virus uses to gain admission to cells. This was too much for the authorities. Even ignoring the issues of consent involved when a procedure is carried out on an embryo, making genetic edits so early in life means that they will be incorporated into germ cells, and thus passed down the generations. That raises serious ethical questions, and what Dr He did was declared illegal by the Chinese government. Dr He is now in prison.

Nor is germ-line editing the only controversy surrounding CRISPR-Cas9. A further complication concerns who gets the patents that will monetise it. The University of California and the Broad have been involved for years in a legal battle over the matter. By giving the prize to Dr Doudna and Dr Charpentier the Royal Academy of Science may have put its thumb on the scales. In picking them it has also, for the first time, awarded a Nobel science prize to an all-female group. Dr Charpentier, via a phone link to the room where the announcement was made, said I hope this provides a positive message to young girls. Women in science can also be awarded prizes. But more importantly, women in science can also have an impact.

Regardless of which category it truly fits into, the creation of CRISPR-Cas9 was a high-end piece of technowizardy. The actual prize for medicine, however, went for a piece of old-fashioned medical detective workthe identification of hepatitis C, a virus that causes life-threatening liver infections and is passed on by exposure to contaminated blood. Though other widespread diseases, such as malaria and HIV/AIDS, gain more attention, the World Health Organisation (WHO) reckons that around 70m people are infected with hep C and that it kills 400,000 people a year. Hep C has also, in the past, turned the business of blood transfusion into a lottery, since there was no way to tell whether a particular batch of blood harboured it. That this is no longer the case is, in no small measure, thanks to the work of this years laureatesHarvey Alter, Michael Houghton and Charles Rice.

Dr Alters work came first. In the 1960s he was a colleague of Baruch Blumberg, who discovered the hepatitis B virus (for which he won a Nobel prize in 1976). Hepatitis viruses are labelled, in order of discovery, by letters of the alphabet. A, a waterborne pathogen, causes an acute infection that passes after a few weeks and induces subsequent immunity. The effects of B and C, though, are chronic and may result eventually in cirrhosis and cancer. Blumbergs discovery led him to a vaccine for hep B, and also meant that blood intended for transfusion could be screened. But it became apparent that such screened blood still sometimes caused hepatitis, albeit at lower rates. Since hep A was also being screened for by this time, that suggested a third virus awaited discovery.

In 1978 Dr Alter, then working at Americas National Institutes of Health, proved this was true by injecting into chimpanzees blood from recipients of transfusions screened for the known viruses who had nevertheless developed hepatitis. These animals sometimes then went on to develop the illness. It took until 1989 to clone the new virus. That was done by Dr Houghton, who was then working at Chiron, a Californian biotechnology firm subsequently bought by Novartis, a Swiss pharmaceutical giant.

Dr Houghton amplified viral genetic material drawn randomly from chimpanzees infected with the as-yet-unidentified virus and tested this against antibodies from infected humans. Antibodies are proteins crafted by the immune system to stick specifically to parts of particular pathogens. By looking at which chimpanzee-derived material the antibodies in question attached themselves to, Dr Houghton was able to isolate the virus and identify it as a type of flavivirus, a group that also includes yellow fever and dengue. He also thus provided a way of screening blood intended for transfusion.

Dr Rice, working at Washington University, in St Louis, Missouri, eliminated lingering uncertainties about whether the flavivirus Dr Houghton had identified was the sole cause of hep C. Attempts to use cloned, purified versions of it to infect chimpanzees had not worked, leading to doubts about whether it was acting alone. Dr Rice identified part of the viral genome which looked crucial to the process of infection, but was highly mutable. He suspected that this mutability was hindering successful infection in the laboratory, and was able to eliminate it by genetic engineering. The stabilised virus was, indeed, infectious to chimps.

The consequence of all this is that blood for transfusion can now be screened routinely for hep C, and drugs to treat it have now been developed. Unfortunately, this has not stopped the march of the illness. Those in rich countries have benefited. Deaths in Britain, for example, fell by 16% between 2015 and 2017. But the wider picture is grim. Some countries, such as Egypt, have recently done well. Others, less so.

One reason is that, besides transfusion, hep C is spread by drug users sharing needles. It can also be spread sexually. This stigmatises it in the eyes of some. And unlike HIV/AIDS, which spreads in similar ways but quickly developed a political lobby to find a treatment once it was discovered, no one spoke up at the beginning for those suffering from the effects of hep C.

That is starting to change. In 2016 the WHO published a strategy for the elimination of all forms of hepatitis. The tools are there to do this. Whether the will to use them also exists remains to be seen.

This article appeared in the Science & technology section of the print edition under the headline "They walked in looking like dynamite"

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Childrens book, Olivias Tower: The Building Power of Cells – ABC 4

Posted: October 13, 2020 at 7:54 pm

Utah author Gretchen Day has a newly released childrens STEM book, Olivias Tower: The Building Power of Cells. The book introduces young readers to the scientific process, and the parts of the cell, but more importantly it shows kids the importance of asking questions, finding answers, and learning about the world around them.

It was inspired by Gretchens childhood experience of watching her mom, a molecular biologist, work in a lab. Gretchenworked in the lab with her mom for a short time after high school, and it left a big impression the rooms full of microscopes, the opportunities to learn, and the people who came from around the world to work and study.

Gretchen works as a journalist, but she always knew she wanted to write a childrens book, and she decided the lab was the perfect setting. Books allow kids to explore their interests, learn about themselves, and think about their future. STEM jobs are growing in demand, yetwomen account for only 24 percent of the STEM workforce, according to a study from the U.S. Department of Commerce. Its fun for young girls and boys to see themselves working in STEM related fields in books and other media. Regardless of a childs future career interests, they can gain knowledge and confidence when they learn about the world.

Olivias Tower: The Building Power of Cells was released on October 3rd from Storybook Genius Publishing. Its available on Amazon, Barnes & Noble online, or atoliviastower.com

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Kyle Rittenhouse’s lawyers fight extradition in protest of turning him ‘over to the mob’ – Fox News

Posted: October 10, 2020 at 11:55 am

EXCLUSIVE DETAILS Kyle Rittenhouse was back in court on Friday morning as his attorneys continued their efforts to keep the 17-year-old in his home state of Illinois instead of being extradited to Wisconsin to face trial on homicide charges.

Rittenhouse wore a face mask as he appeared on a video stream for a brief court hearingin Lake County, Ill., on Friday morning, one day after court papers argued that moving him to Kenosha, Wis. would effectively turn him over to the mob.

Judge Paul Novak scheduled an Oct. 30 hearing on the extradition request, though prosecutors told Novak they were prepared to move faster.

The law is pretty clear cut on this, Lake County Assistant States Attorney Stephen Scheller said. This case has been dragging on now, were already into October. ... We want a hearing as soon as possible.

In this screen grab from live stream video, Kyle Rittenhouse appears via video during a hearing at the Nineteenth Judicial Circuit Court in Waukegan, Ill., on Friday, Oct. 9, 2020. (Nineteenth Judicial Circuit Court via AP)

But John Pierce, Rittenhouses criminal attorney, said there was no reason to rush" and questioned Wisconsin prosecutors' motivation for pursuing the charges.

"This is a very unique, extraordinary situation, Pierce said. There is a massive amount of video evidence that shows beyond a shadow of a doubt this is not a legitimate criminal prosecution, it is a political prosecution.

Rittenhouse remains in an Illinois jail cell.

On Thursday, lawyers for Rittenhouse filed a petition for writ of habeas corpus, arguing that his safety is in jeopardy and the case does not meet the legal requirements necessary to move someone from a juvenile center to an adult facility. The Antioch teenager is accused of fatally shooting two men and wounding a third during late-August civil unrest in Kenosha. Attorneys have continuously argued he was acting in self-defense.

RITTENHOUSE ATTORNEYS FILE PETITION FOR WRIT OF HABEAS CORPUS IN BID TO HALT EXTRADITION

Pierce told Fox News before the hearing that he was extremely concerned for Rittenhouses safety in light of threats that have been made to him, to his family, to his lawyers.

Adding to that concern is the fact that a former vice president of the United States and a sitting United States senator who are running for president in what is arguably the most heated presidential election, perhaps in American history ... has now chosen to use him as a political pawn to suggest falsely that he is a white supremacist, Pierce added. And to suggest falsely that he is one of the people that is responsible for the arson, looting and insurrection in Kenosha and Portland.

Pierce was referring to a video shared last month byDemocratic presidential nomineeJoe Bidenthat appears to suggestthe teenager is a White supremacist.

Speaking exclusively to Fox News,Rittenhouses mother, Wendy Rittenhouse fumed as she recalled how she stumbled upon the video herself.

"I am angry. My son is not a white supremacist. He is not a racist. He is not in no militia," she said. "Former Vice President Biden, how dare [he] use my son for a political ad for his campaign."

KYLE RITTENHOUSE TO SUE BIDEN, CAMPAIGN FOR LIBEL, ATTORNEY SAYS

Rittenhouseturned himself in to Antioch, Ill., police and was later charged with first-degree reckless homicide, first-degree recklessly endangering, first-degree intentional homicide and attempted first-degree intentional homicide, all of which had charges reflecting use of a dangerous weapon, the criminal complaint states.

Rittenhousetold Fox News that, despite reports that she had driven her son into Kenosha the night of the shooting, Kyle had actually worked as a lifeguard in Wisconsin the day before and then stayed with a friend overnight.

The next day, he and his friend cleaned up graffiti in the morning before making their way into the area that had been stricken by violence and riots over thetwo previous nights. There, they encountered a business owner who was desperate to ensure his business was safe, Pierce said, joined by Wendy.

A former or current employee, who happens to be friends of Kyle and his friend, desperately wanted to help protecting what was left, Pierce said, later adding:And of course, he had a firearm with him because otherwise he would have been killed.

Wendy Rittenhouse, 45,and Pierce insisted the gun belonged to a friend and was not Kyles. They said it was never kept at their Antioch home and Kyle only ever used the gun in Wisconsin, Pierce added.

I did not drive Kyle. I did not give Kyle that gun and people want to assume that, she said, They're wrong. I did not drive my son to Kenosha that night.

The charges against Rittenhouse stem from a series of alleged shootings on the night of Aug. 25, when Rittenhouse was in Kenosha with a friend and told the Daily Callers Richie McGinniss he was there that night to protect a business that he was seen standing near, and also to help people.

If theres somebody hurt, Im running into harms way," he toldMcGinniss."Thats why I have my rifle because I need to protect, obviously, but I also have my med kit.

Shortly after 11:30 p.m., Joseph Rosenbaum, 36, and 26-year-old Anthony Huber died as a result of the shooting. Gaige Grosskreutz, who was allegedly holding a handgun at the time, was wounded but survived.

The criminal complaint pertaining to Rittenhouses arrest, which was shared online, details how several cell phone videos show Rittenhouse running southwest across the eastern portion of the Car Source parking lot holding a long gun. Rosenbaum, who was not armed, is seen on video trailing behind him and then throwing an object later identified as a plastic bag at Rittenhouse, the complaint states.

The defendant and Rosenbaum continue to move across the parking lot and approach the front of a black car parked in the lot, a second video shows, according to the complaint. A loud bang is heard on the video, then a male shouts, F--- you!, then Rosenbaum appears to continue to approach the defendant and gets in near proximity to the defendant when 4 more loud banks are heard. Rosenbaum then falls to the ground.

Rittenhouse then approached Rosenbaum before turning and running away, telling someone on the phone, I just killed somebody, the complaint states. Third and fourth videos show Rittenhouse running after he allegedly shot Rosenbaum, as people running after him can be heard yelling, Hey, he shot him! and Beat him up! and Get him!, the complaint states.

'TUCKER CARLSON TONIGHT' AIRS NEVER-BEFORE-SEEN FOOTAGE FROM DEADLY KENOSHA SHOOTING

Then a male in a light-colored top runs towards and the defendant and appears to swing at the defendant with his right arm, the complaint states. This swing makes contact with the defendant, knocking his hat off. The defendant continues to run.

But when Rittenhouse trips and falls, a man jumps at and over him, at which point Rittenhouse allegedly fires two shots, but does not appear to strike the man, police said.

The complaint alleges that Huber, who is holding a skateboard, then approaches Rittenhouse who is still on the ground, on his back.

When Huber gets to Rittenhouse, it appears that he is reaching for the defendants gun with his left hand as the skateboard makes contact with the defendants left shoulder, the complaint states, adding that it appears Huber is trying to take the gun, which is pointed at his body.

Rittenhouse then fires one round which can be heard on the video, the complaint states. Huber staggers away, taking several steps, then collapses to the ground.

The teen then allegedly sat up and pointed his gun at Grosskreutz, who had put his hands in the air when he said Huber had been shot. But when Grosskreutz advanced toward Rittenhouse holding what appeared to be a handgun, Rittenhouse fired a single shot, striking him in the right arm.

Rittenhouses attorneys said the teen tried multiple times to surrender to Kenosha authorities before ultimately opting to return home.

Wendy Rittenhouse told Fox News she had no idea her son would be attending the protest and found out when she texted him late Tuesday.

He got back ... to me and said, 'I'm okay and doing medics.' I'm like, 'What?' she recalled. She said she woke up shortly thereafter with the feeling that something was wrong. She soon got word that something had happened in Kenosha, though details were unclear, she said.

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I had to find my son, and his sister was calling everybody, she said. I'm like, we have to go somewhere to find him.

Wendy, a single mom who also hastwo daughters one younger and one older than Kyle left her apartment and drove into Kenosha to try to find Kyle or his friend, looking for his friends car which she said she would have recognized.But she stayed in the Green Bay area and Highway 50, away from the riot scene, she said.

When I got back home, he was already there, she said. All I did was hug him, tell him I love him. He was crying. He was pale.

Rittenhouse went to turn himself in to Antioch Police within 20 to 30 minutes later, she said.

Wendy said she gave her son permission to learn how to use the gun with his friend in Illinois

Kyle Rittenhouse and his mother, Wendy (Photo courtesy Pierce Bainbridge)

In the weeks since the Aug. 25 shooting, Wendy Rittenhouse said she has tried to watch the full footage of the attack.

I get to the point where the first guy was chasing him to the gas station And I see this mob chasing my son. The guy hitting my son in the head with a skateboard, she said, often sounding as if shes holding back tears. Looking at my son's face ... I just cry, I was sick to my stomach. This mob was chasing my son to try to kill him.

From her knowledge, Wendy said her son had never previously served as a medic at demonstrations. She said she had given Rittenhouse permission to learn how to use the gun at his friend's home in Illinois and added:"If he didn't have that gun, he would've been dead."

She and Pierce vehemently rejected any notion that Rittenhouse was a member of a white supremacy or militia group.

Wendy has since taken a leave of absence from her job at a local nursing home. She and her daughters have relocatedto an undisclosed location, she said, explaining that she no longer felt safe at home.

We cant even go back home. We don't even have a home because the fear of them breaking in my house, killing my daughters, killing me, and if Kyle was there, to kill him.

The Associated Press contributed to this report.

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ASHG 2020 Virtual Meeting to Showcase Innovative Research in Human Genetics – BioSpace

Posted: October 10, 2020 at 11:54 am

ROCKVILLE, Md.--(BUSINESS WIRE)-- The American Society of Human Genetics (ASHG) 2020 Virtual Meeting taking place October 27-30 will showcase global advances in human genetics and genomics research that are transforming the scientific landscape and leading to new advances in the treatment of devastating diseases.

The ASHG 2020 Virtual Meeting features more than 200 oral presentations, nearly 2,000 scientific poster presentations, 80 exhibit booths, networking and professional development opportunities, and more, making it the digital epicenter of human genetics. As always, it will be among the worlds largest events for genetic and genomic discovery, with thousands of scientists, clinicians, advocates and others participating from more than 50 countries.

As a global showcase of the latest developments in human genetics, the ASHG 2020 Virtual Meeting will provide an online venue for researchers who conduct human genetics and genomics research around the world to exchange scientific knowledge, said Anthony Wynshaw-Boris, MD, PhD, ASHG President. I am excited about the fantastic talks, posters, and special sessions, that will be presented at the Virtual Meeting.

The meeting will host chat sessions throughout the program to continue scientific conversations and exchanges around the latest scientific updates and breakthroughs. The Society also will recognize the outstanding scientific achievements of its members in the human genetics and genomics community with special awards and lectures throughout the meeting.

Not only will the ASHG 2020 Virtual Meeting host exceptional plenaries, but also concurrent programming sessions covering critical areas of the field. In addition to the late-breaking COVID-19 session, other sessions will focus on data usage and data resource topics related to human genetics and genomics. Finally, of note, the Virtual Meeting will feature human genetics and genomics research which works with participants of diverse populations, as well as perspectives from researchers working in their own communities. See all speakers and sessions and the full schedule.

We are adapting to changes in the field, the global pandemic, and the need for physical distancing by hosting our first Virtual Meeting, connecting us all through outstanding science, shared resources and information, and meaningful relationships, said Teri Manolio, MD, PhD, ASHGs Program Committee Chair. ASHGs Virtual Meeting is yet another important way we are working to connect with members and the field, as we utilize our expertise in online events to deliver the best scientific programming.

Learn more about the high-caliber speakers and explore the workshops and special sessions that are incorporated into the virtual meeting this year. Registration is open. Complimentary registration is available for media; apply for credentials. To connect for interviews, contact Kara Flynn at press@ashg.org.

The American Society of Human Genetics (ASHG), founded in 1948, is the primary professional membership organization for human genetics specialists worldwide. The Societys nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others who have a special interest in the field of human genetics.

View source version on businesswire.com: https://www.businesswire.com/news/home/20201006005181/en/

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Focusing on the Future of Genetic Testing in Oncology – OncLive

Posted: October 10, 2020 at 11:54 am

Germline genetic testing is essential in order to identify optimal treatments for patients with cancer, as well as detecting inherited mutations via cascade testing that could affect family members, according to John M.Carethers, MD, MACP, who emphasized that improvements to genetic testing technology and testing costs has increased not only the accuracy of, but access to these assays.

The technology in sequencing has moved from the old gels to capillary to ChIP [chromatin immunoprecipitation]-based, and has revolutionized the way we approached it. The depth of [genetic testing] coverage [has evolved], said Carethers. Sequencing technologies totally revolutionized this [process].

He added, There are some unusual situations in which additional technologies have to be used to figure out some of the ones that typical ChIP technologies don't fully explain. That has markedly changed the way we approach [testing] these days.

In an interview withOncLiveduring the 2020 Institutional Perspectives in Cancer (IPC) webinar on Precision Medicine, Carethers, a professor of Internal Medicine and Human Genetics at the University of Michigan, discussed recent developments in multi-gene panel testing.

OncLive: How are predictive and somatic genetic tests being utilized in clinical practice?

Carethers: In terms of germline testing, the benefit is knowing which disease you carry, and that information can also spread to other family members to understand whether they [are at an increased risk of getting a cancer diagnosis]. Sometimes, at least in my experience, [germline testing] does alleviate some anxiety. Some people get more anxious once they know they have a germline mutation, but in general, it does at least explain the reason why they're seeing certain diseases in the family. Thats the general benefit for germline testing.

The benefit of somatic testing is knowing the type of mutations that occur in the tumor; there may be a therapeutic drug or compound that is in current use that could benefit the patient. For instance, I had a patient with unresectable esophageal cancer. She was dying and her esophagus was almost completely obstructed with the tumor. She had a feeding tube put into her stomach and lost a lot of weight; she was literally counting out the days until she died. With some thought, we decided to take a sample of the tumor and do somatic testing.

She had some mutations that werent typically found in esophageal cancer, and we did have drugs [to treat her]. She was actually put on those drugs and the tumor shrunk dramatically to the point that she could eat again, she gained weight, and she lived another 5 years. Normally, she wouldn't have lasted more than a few months. The benefits of somatic testing is understanding the genetic makeup of the tumor in which you might be able to use some compounds that exist to benefit the patient. Thats the real goal of somatic testing.

There is an unusual situation for somatic testing, as well. For instance, in colon cancer, we know about Lynch syndrome, but there is also a Lynch-like syndrome. In Lynch-like syndrome, there is no germline [mutation], but the tumor has 2 somatic mutations of a mismatch repair deficient tumor. They can look like a Lynch syndrome tumor, and maybe even behave a little bit like a Lynch syndrome tumor, but they're really not caused by a germline mutation. Sometimes, somatic genetics can help us understand tumor genesis as well as ways to treat the tumor.

What changes have we seen recently in multigene panel testing? How are test results interpreted and how do they help guide treatment strategies?

There are patients who will walk in with the classic phenotype and then there are patients walking in who don't have the classic phenotype, yet they carry that mutation in the same gene. Multigene testing allows us to account for phenotypic variation.

Someone may walk in with colon cancer, the next person in the family might walk in with endometrial cancer, and the next person in the family may walk in with a skin tumor, but they all line up with the same mutation in Lynch syndrome. However, if you saw the skin tumor first, would you have thought of Lynch [syndrome]? [What about] if you saw the endometrium or the colon cancer? It depends on the specialty and the type of disease presentation they show up with. In many cases, though, the disease could be subtle.

For instance, there was a family I followed, which comprised the grandmother, mother, and daughter. The grandmother, who was well into her late 60s, had a Lynch syndrome mutation and got her colon removed appropriately. The mother was in her 40s with no cancers, but the daughter who was 21, developed colon cancer. It looked like it skipped a generation, yet, they all carry the same mutation. There's phenotypic variation, even with this exact same mutation in the family, because we're all genetically different to some, so there's probably modifiers and other things going on. However, if I can see that in this one family who I know [harbor that specific] mutation [then I know that] if multiple people walk into the clinic and have variations in their family histories and in their personal history of cancer, that we are seeing a wide phenotypic variation.

Now, instead of testing 1 gene at a time, we will test 30 or 50 genes at a time, and you can pick up some of these less penetrant genes that are causing the phenotypic variation. Sometimes there are major penetrant genes in these families.

What other barriers to germline testing need to be addressed?

We're always learning. Every year or so we add a few more genes to our repertoire and then, maybe they get on some of these panels. E3 ubiquitin ligase WWP1 is associated with PTEN hamartomatumorsyndrome, which is not on any panels, but the paper was published in the New England Journal of Medicine. We keep learning as we discover more and more of these genes. The more genes that we find tend to occur in less and less people, based on our current knowledge, but some of these patients present with these rare phenomena.

We're also finding out that some of these mutations arent specifically a change in the DNA sequencethere are methylation, or rearrangement, or even a deletion. You have to use other techniques in addition to sequencing to figure those families out or those families will be left in the lurch.

The downside of doing multigene panel testing is that now, if you push for more whole-exome and whole-genome sequencing, we have a lot more variants. One commercial lab got [results] back to me 2 months ago from a patient we had tested 4 years ago. They said, We finally have enough people [where we could determine that] his variant is not significant. It was good news. We are now more sure of variants because they now have more families in their database at the commercial lab. Sometimes it takes years to figure it out, unless we have functional analysis for all variants. Thats a big challenge right now.

Where do you hope to see the future of genetic testing head?

In a good way, genetic testing will probably [have a lower] cost and there [will be an] ease of doing it [with] whole-exome and whole-genome sequencing. It will even overtake panel testing over time because the machines are better and faster. The key, though, is having a database that you can go back and forth and analyze. Youre going to need the analytics and tools. What happens with the patient? Do I carry this [information] on a flash drive? Is it in a database I have to have access to?

It's not an easy answer and I'm not sure if the health system that a particular patient goes to is going to store all this information3 billion base pairs of informationand go back to it each time. Each place is going to have to have the right analytic tools to go back and [retrieve that information]. There are going to be some challenges with that, even though that's the way the technology is going.

The more challenging pieces [are related to] direct-to-consumer (DTC) testing. You don't always know what you're getting on those tests. We can test you for common diseases, such as diabetes and hypertension, but we also test you for BRCA1/2. In reality, very few of the DTC [tests] are doing sequencing or panel testing like we do clinically. Many of them are using single nucleotide polymorphisms (SNPs) that give you a suggestion. Many of these start from ancestry companies,and they recently moved into [testing for] these diseases because people are interested. I don't blame them for doing this, but the information they give might only [include] a fraction of the actual disease variants. If someone finds an SNP in BRCA1/2 or Lynch syndrome, you might need to see a doctor. [Based on your family history or phenotype,] we may have to send a ChIP test to verify [the results].

In some cases, people will test just to be curious, and they think they're going to have something, but there is zero evidenceno personal history and no family history. There are going to be some challenges with the DTC [testing] because we don't always know the type of test theyre getting and the information is not going to be as precise and could present challenges in the clinics. Some people are going to get upset because we're going to say, No, you don't need testing, or [patients will ask], Why does this test say I might have it but your test says I don't? We have to explain all this and those are going to be challenges.

What else would you like to add regarding the evolution of genetic testing?

There is phenotypic variability in the presentation of many of these syndromes. The standard now is multigenetic panel testing to try to assuage the phenotypic variation; we do pick up [genes in] people who we didn't necessarily think had that disease. I've been surprised too many times, so I'm not surprised anymore. A lot of these inherited conditions have phenotypic variability. If you have any suspicion or your primary care physician has any suspicion, feel free to send [a test] to our clinic because we can investigate that and do testing that's relatively cheap if there's a good cause to investigate that. It may save their life and the lives of their loved ones.

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Evenings with Genetics discusses connection between cancer and genetics – Baylor College of Medicine News

Posted: October 10, 2020 at 11:54 am

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Does cancer run in families? A genetic counselor from Baylor College of Medicine will answer that question and more about cancer genetics during the Evenings with Genetics virtual seminar on Tuesday, Oct. 13, at 7 p.m.

During the hourlong webinar, Tanya Eble, genetic counselor and assistant professor of molecular and human genetics at Baylor, will discuss cancer red flags to look for in your personal or family history, what to expect at a cancer genetics evaluation as well as gene tests for hereditary breast and colon cancer syndromes. Judy Karonika of Judy's Mission, a nonprofit aimed at increasing awareness, education and prevention of ovarian cancer, and patient advocate Nancy Khan will also speak.

Evenings with Genetics is a regular speaker series hosted by Baylor College of Medicine and Texas Childrens Hospital that offers the most current information on care and research advances for many genetic conditions. The seminars provide an opportunity for patients in the genetics community to interact with other families experiencing similar situations.

The program is free and open to the public, but registration is required. A Zoom link will be sent to all registered participants the day before the seminar. For more information, call 713-798-8407 or visit the event registration page.

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