Is it worth investing in artificial intelligence? – ITProPortal

Although AIs are entering new areas every day, a handful of AI laboratories that still focus on artificial intelligence are still consuming large amounts of cash and have made not much progress on AI.

According to the documents submitted to the UK Companies Registry in August, only the Alphabet-owned AGI Lab DeepMind lost $570 million in 2018 alone. Another AI Lab, OpenAI, which aims to create AGI, had to abandon its non-profit organisation to find investors in its expensive research. Both labs have achieved extraordinary success, including the creation of robots that can play complex board games and video games. But they are still far from creating artificial intelligence.

A survey by MIT Sloan Management Review and BCG showed that 90 per cent of companies are currently investing in artificial intelligence technology. But less than 40 per cent of companies were able to sense and calculate the economic benefits of implementing AI, while the rest noted that new technologies did not affect the business, or the impact was minimal. According to experts, not all enterprises have learned how to correctly use AI in their business areas, it is also incorrect to consider AI as a means of reducing costs. Successful companies integrate AI into the overall business development strategy; for them, this is one of the tools to increase revenue, rather than save.

Georgy Lagoda, the Deputy CEO of Software Product Group, In his report at CNews Forum 2019 answered the question of why companies continue to invest and develop artificial intelligence technologies, and also spoke about the application of the latest AI trends in various Russian government and business fields.

According to George, the use of AI is necessary for the field of Big Data. Over the past 2 years, about 95 per cent of all world data was generated, while 90 per cent of the data are not structured and fragmented. In this regard, in the era of the digital economy, there is a need to implement AI-based solutions, without which the processing of a huge amount of data becomes impossible.

In 2019, based on business needs, the Hype Gartner cycle included 8 new and previously known technologies in the artificial intelligence class: cloud AI services, AutoML, augmented intelligence, Explainable AI, smart devices, reinforcement learning, quantum computers, marketplaces with AI. One of the most sought-after trends of this year is speech recognition and synthesis. George cites Amazon Alexa and Yandex Alice as an example, as well as Vera Voice technology, which allows synthesising celebrity speech.

Furthermore, George mentioned the agreement between Gazprom Neft and Saudi Aramco. The companies will now work together to create and use AI and neural networks to refine the hydrodynamic models of the fields.

In Russian banking sector, there is also a widespread introduction of AI: the appearance of chatbots, robot operators in call centres. The largest bank in Russia - Sberbank, plans to introduce smart machines to help operators with coin counting, loading operations, etc.

In the field of Russian education at the moment there are several problems. For example, in each class, there are laggards and those to whom the material seems fairly easy. It is assumed that the use of adaptive technologies will help in solving this issue. AI will monitor the progress of each student and inform the teacher about the levels of assimilation of various materials. The speaker of the Software Product also spoke about another application of the latest technologies in the field of education - the introduction of AI in testing USE tests. AI worked over a million-student work and, based on handwriting analysis, found tests written by different people.

George also spoke about the use of AI in the field of the Internet of things and announced the economic effect of the introduction of the SOVA PAK for writing fines and controlling parking lots. For the first year of work in one of the regions of Russia, the complex allowed to significantly reduce labour costs, saving about 500 million rubles. from the budget.

According to experts, technological capabilities are widely used in the Russian industrial market, especially in the field of instrumentation, engineering and aircraft manufacturing. Georgy cites an example of a system for automatic photo and video recording of violations and neglect of industrial safety. The solution allows you to increase the safety of production processes by instantly responding to dangerous situations and informing workers.

Then he drew the attention of listeners to the use of AI in the field of Russian government information security. Recently, cybercriminals have begun to use new technologies in the development of malware, which makes it increasingly difficult for anti-virus systems to detect threats. To combat cybercrime, IT developers began to implement the machine learning function in software products for the most in-depth analysis of malware. George cited Wallarm as an example, which develops solutions with a machine learning feature for firewalling. Classical security systems use a common set of static signatures, as a result of which, during the intrusion, a huge number of IP addresses are blocked. Unlike them, the Wallarm platform analyses traffic using AI and then blocks individual packets, i.e. specific attacker.

As for AI in the public sector, the speaker cited the Moscow Information Technology Department as an example, in which a huge number of information security events are generated every minute. When parsing such a data stream by a person, errors and omissions of dangerous incidents are not ruled out. Therefore, for the efficiency of processing such data, software solutions are introduced that, with the help of machine learning, can analyse and segment events, as well as respond to threats with high speed.

There is a risk in everything but the fact that AI is progressing continuously, and that AI is the future of the Internet, computing, etc. AI will strengthen the Internet of Things and IoT is expected to increase exponentially over the next 2 years. Simply put, there are currently about 23 billion connected devices, and this number will increase to over 75 billion, which is more than 200 per cent by 2025. All adds up to a YES, it is worth investing in AI.

However, there remains an important question of what part of AI to invest in? Then wait for our upcoming articles.

Amin Haqshanas, Sophomore in Mechatronics Engineering, Web Designer/Developer, Zinniagroup

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Is it worth investing in artificial intelligence? - ITProPortal

The Future Of Artificial Intelligence In Retail – Digital Information World

Artificial intelligence (AI) is more than just cyborgs in movies trying to destroy humanity. It has actual real-world applications that can make our lives better and our businesses stronger and more profitable. In retail, artificial intelligence is being adopted rapidly - between 2016 and 2018 there was a 600% increase in adoption. Unfortunately the adoption rate is still relatively low, ranging from 26% for home improvement stores to 33% for apparel and footwear. If AI can make such a big difference, why isnt everyone adopting it?

Currently, only 15% of companies are saying they are spearheading AI adoption. Only 25% of large retailers are investing up to 10% of their capital in artificial intelligence systems, while all other size retailers are spending just 7%. Implementation of AI is costly, but those who use it are finding the benefits far outweigh the costs.

Customer service is one of the most successful use-cases for artificial intelligence yet. Customer-facing AI can improve customer satisfaction by 9%, reduce customer complaints by 8%, and can lower customer churn by 5%, all in the early stages. As this technology improves, it can help even more with customer satisfaction. Currently, voice technology is being programmed that can emulate and mirror human emotions better, mimicking empathy and deescalating tense customer service situations. But even just getting people to the right customer service representative when they call a call center can help get customers the right remedy to their situation.

Chatbots and virtual assistants are an extension of this technology that are used to assist customers who arent having a problem. They can help assist customers in finding the right item to buy, finding new items to try, and learning more about what they are buying. In fashion, AI and chatbots are being used to help customers find new clothing looks based on what they like. In the spirits business, Brown-Forman has a Whiskey Whisperer that can help customers learn more about whiskey, find new products, and find cocktail recipes to try.

AI is also helping to streamline the shopping experience. In Amazon Go stores, cameras and AI mean that customers can take items off the shelves, bag them and walk out of the store, saving time in the checkout line, as the system rings things up as you go and automatically charges you as you walk out the door.

Throughout the supply chain, AI can be used to streamline operations. In production, AI can be used to forecast orders, schedule workers optimally, and even create a schedule that will utilize electricity more efficiently. In shipping, AI can help ensure trucks are completely full so empty space isnt being shipped. It can also optimize shipping routes to save on time and fuel. In retail, AI can be used to optimize ordering so that valuable inventory isnt sitting around collecting dust.

Artificial intelligence is often portrayed as something that is going to destroy mankind in the movies, but in reality most of the real-life applications are pretty mundane and most are actually beneficial. As AI is adopted in more aspects of the retail landscape, there will certainly be bumps in the road. But the end product will be a stronger, more agile sector of the economy that serves both customers and businesses better. Learn more about the future of retail with AI from the infographic below!

Read next: From Science Fiction To Reality With Artificial intelligence (infographic)

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The Future Of Artificial Intelligence In Retail - Digital Information World

Artificial Intelligence Will Enable the Future, Blockchain Will Secure It – Cointelegraph

Speaking at BlockShow Asia 2019, Todalarity CEO Toufi Saliba posed a hypothetical question to the audience: How many people would take a pill that made you smarter, knowing they can be controlled by a social entity?

No one raised their hand, and he was unsurprised.

Thats the response that I get, zero percent of you, he continued. Now imagine at the same time the pill has autonomous decentralized governance so that no one can control or repurpose that pill but the host yourself.

This time hands were raised in abundance. Decentralized governance represents a necessary step for the tech community to build up a trust in digital developments related to securely managing big data.

Economics and ethics can go together thanks to decentralization, commented SingularityNET CEO Ben Goertzel.

But does the decentralized governance represent a step forward from centralization, or it is just an illusion of evolution? Cole Sirucek, co-founder of DocDoc, shared his vision:

It is when we are at a point of centralizing data that you can begin to think about decentralization. For example, electronic medical records: in five years the data will be centralized. After that, you can decentralize it.

Goertzal didnt fully agree: I dont think it is intrinsic. The reason centralized systems are simpler to come by is how institutions are built right now. There is nothing natural about centralization of data. He elaborated on the mutual dependence of two important technologies:

Blockchain is not as complex as AI, but it is a necessary component of the future. Without BTC, you dont have means of decentralized governance. AI enables the future, blockchain secures it.

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Artificial Intelligence Will Enable the Future, Blockchain Will Secure It - Cointelegraph

Epileptic Seizure Prediction becomes much easier with the new Artificial Intelligence technology – Digital Information World

Recently, Hisham Daoud and Magdy Bayoumi of the University of Louisiana at Lafayette have introduced a completely newArtificial Intelligence (AI) system that predicts epilepsy seizures. According to the World Health Organizations reports, around 50 million people around the world are suffering from epilepsy and 70% of those patients can control the seizures through medications.

The new AI technology shows 99.6% accurate results, and the best thing about it is that it predicts the attacks an hour before it happens. In this way, the patient can gear up for it and take medications that can prevent its occurrence. Having enough time to control the attack is what a patient needs.

Some might be thinking that its the perfect cure and prediction strategy for the epilepsy patients, but its not; however, it is definitely something big in the market. Right now, there are many other options as well that does the work, for instance, electroencephalogram (EEG) tests to evaluate the brain activity to predict the condition.

This new AI technology performs both EEG tests and applies predictive models simultaneously to predict seizures. The deep learning algorithms in the technology allows predicting the electrical channels lightning that happens only during a seizure.

Currently, this technology is not available worldwide and there is some time before it does so. Right now, the team of this technology is busy working on a custom chip that can make the process further easier.

It is definitely good news for epilepsy patients and more improvement in the technology will only bring good outcomes for them.

Source: IEEE spectrum / IEEE.

Read next: Effects of Social Media on the Mental Health of Young People!

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Epileptic Seizure Prediction becomes much easier with the new Artificial Intelligence technology - Digital Information World

Public fears about artificial intelligence are ‘not the fault of A.I.’ itself, tech exec says – CNBC

Rong Luo, CFO of TAL Education Group, Doranda Doo, SVP of iFLYTEK Co. Ltd. and Song Zhang, Managing Director of Thoughtworks China on Day 2 of CNBC East Tech West at LN Garden Hotel Nansha Guangzhou on November 19, 2019 in Nansha, Guangzhou, China.

Zhong Zhi | Getty Images News | Getty Images

The technology industry and policymakers need to address public concerns about artificial intelligence (AI) which are "not the fault of AI" itself, a tech executive said Tuesday.

"It is the fault of developers, so we need to solve this problem," said Song Zhang, managing director for China at global software consultancy, ThoughtWorks.

Consumer worries relating to AI include concerns about personal privacy and how the systems may get out of control, said Zhang during a panel discussion discussing the "Future of AI" at CNBC's East Tech West conference in the Nansha district of Guangzhou, China.

It is the duty of the tech industry and policymakers to focus on, discuss and solve such problems, said Zhang in Mandarin, according to a CNBC translation. Indeed, while consumers are curious about AI when they first come into contact with the technology, their mindset changes over time, said Rong Luo, chief financial officer of TAL Education Group.

"The first phase is everyone finds it refreshing, they like something new, they want to give it a try," said Luo.

But "in phase two, people start to care a lot about their privacy, their security," Luo added.

And finally, after "one to two years of adjustments, we (have) now entered phase three, we have a more objective view of the technology. We do not put (it) on the pedestal nor do we demonize it," said Luo.

Panelists at the session acknowledged the potential of AI in various fields such as language translation and education.

"Technology is here to assist them, empower them. We want to free them from those repetitive and meaningless work (tasks) so they have more energy and time for other more creative jobs," said Doranda Doo, senior vice president of Chinese artificial intelligence firm iFlytek.

"So I think what's the most powerful is not AI itself, but people who are empowered by AI," Doo said.

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Public fears about artificial intelligence are 'not the fault of A.I.' itself, tech exec says - CNBC

Three Legal Areas to Think About When Using Artificial Intelligence in the Workplace – JD Supra

Updated: May 25, 2018:

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Intel to Expand Role in High-Performance Computing and Artificial Intelligence – Financialbuzz.com

Intel Corporation(NASDAQ: INTC) revealed its plans for expanding its role in high-performance computing (HPC) artificial intelligence (AI) with new additions to its data-centric silicon portfolio and new software initiative that represents a paradigm shift from the current single-architecture, single-vendor programming models.

HPC and AI workloads demand diverse architectures, ranging from CPUs, general-purpose GPUs and FPGAs, to more specialized deep-learning NNPs, which Intel demonstrated earlier this month, said Raja Koduri, senior vice president, chief architect, and general manager of architecture, graphics and software at Intel. Simplifying our customers ability to harness the power of diverse computing environments is paramount, and Intel is committed to taking a software-first approach that delivers a unified and scalable abstraction for heterogeneous architectures.

oneAPI: A Developer-Centric Approach to Heterogeneous Computing

Intels silicon portfolio has a diverse mix of architectures deployed across various silicon platforms. The foundation of Intels data centric strategy is the Intel Xeon Scalable processor, which today powers over 90 percent of the worlds Top500 supercomputers. At Supercomputing 2019 conference, Intel unveiled a new category of general-purpose GPUs based on Intels Xearchitecture. Code-named Ponte Vecchio, this new high-performance, highly flexible discrete general-purpose GPU is architected for HPC modeling and simulation workloads and AI training.

Intels Data-Centric Strategy Delivers the Foundation for AI/HPC Convergence

Intels data-centric silicon portfolio and oneAPI initiative lays the foundation for the convergence of HPC and AI workloads at exascale within the Aurora system at Argonne National Laboratory.

Aurora will be the first U.S. exascale system to leverage the full breadth of Intels data-centric technology portfolio, building upon the Intel Xeon Scalable platform and using Xearchitecture-based GPUs, as well as Intel Optane DC persistent memory and connectivity technologies.

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Intel to Expand Role in High-Performance Computing and Artificial Intelligence - Financialbuzz.com

Is sexual orientation genetic? Yes and no, an extensive study finds – Haaretz

The international group of scientists knew they were setting out to investigate an explosive subject: the hereditary basis of human same-sex behavior. Even so, the members of the prestigious Broad Institute in Cambridge, Massachusetts, may not have anticipated the magnitude of the public furor that erupted when they published their study, which identified several markers in certain genetic loci in the human genome related to same-sex sexual experience. The storm of reactions ranged from those who welcomed something seen as heralding significant progress in the field, to others who maintained that it would have been better if the scientists hadnt published anything.

The research results were published in full in the journal Science, at the end of August. This was the most extensive study of its kind ever conducted (there were about a half a million subjects), in which use was made of the GWAS (genome-wide association studies) method to analyze genetic big data. The researchers discovered five genetic markers (frequent, minor changes in the DNA segments of certain chromosomes) that appeared repeatedly among individuals who reported having had same-sex sexual experiences. Slight and frequent genetic variations were identified in both women and men, two others in men only and one more only in women.

No less important in the study, entitled Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior, is the scientists claim that a large number of genetic markers, perhaps even thousands, might operate simultaneously together although each in and of itself is of minuscule weight and influence ones same-sex orientation. Moreover, their study led the researchers to the conclusion that human genetics can explain up to 32 percent of same-sex sexual behavior.

What is at issue here, however, is not what the study contains but what it does not contain. As Melinda Mills, a sociology professor at Oxford, writes in the same issue of Science, there is no way that the researchers findings can be used as a tool to accurately predict same-sex behavior. Specifically, the fact that genetics can explain up to 32 percent of the fact that someone is gay or lesbian, does not mean that sexual identity is determined primarily by environmental factors not to mention social ones. This story is far more complex and has not yet been fully deciphered. Mills views are shared by Andrea Ganna, one of the chief authors of the new study.

What we basically do is statistical associations between having and not having these genetic markers and having or not having same-sex behavior, Ganna told Haaretz in a phone interview. Because we had this uniquely large study, he continued, which allowed us to have robust conclusions, and because we had the technology to measure the genetic markers of so many individuals, the time was right to confirm something that we expected: There is no one specific gay gene. Instead there are a lot of relatively common genetic markers, genetic mutations, that have a small effect on same-sex behavior.

At the same time, adds Ganna, a geneticist at Harvard Medical School and at Finlands Institute of Molecular Medicine, Not everyone is interpreting the fact that theres no single gay gene in the right way.

Gannas concern is shared by scientists around the world. Theyre worried that the researchers findings will fuel prejudice and discrimination against the LGBTQ community, and even spark calls for genetic engineering and genetic diagnosis among its members. So serious are these apprehensions that some have wondered whether the study would not do more harm than good.

As a queer person and a geneticist, I struggle to understand the motivations behind a genome-wide association study for non-heterosexual behavior, Joseph Vitti, a postdoctoral researcher at the Broad Institute, wrote on its blog, adding, I have yet to see a compelling argument that the potential benefits of this study outweigh its potential harms [T]he results presented not only oversimplify the question of biological causality, but also threaten direct damage by perpetuating the stereotype of LGBTQIA+ people as imprudent, while also likening same-sex attraction to a medical or psychological disorder.

Moreover, a website called The American Conservative posted an article entitled Not Born This Way After All? which wondered, skeptically: If the study proves that homosexuality is related to the environment, above all, and not to heredity why isnt it right and proper, in scientific terms, to allow those who so desire to undergo treatment in order to reduce their same-sex desires, which have now been shown not to be genetic?

That, however, is a simplistic reading of the studys findings. According to Michael Bailey, a professor of psychology at Northwestern University in Illinois, who was not involved in the study but has been conducting research on sexual orientation for 30 years, Its very important to understand that environment does not simply refer to social surroundings, like what your parents teach you and what kids you know, trauma and so on theres also a biological environment that begins right after conception.

Three years ago, Bailey and several colleagues published a survey of all the studies and professional literature in the field. The best studies have shown that genes are probably important but not overwhelmingly important, he tells Haaretz. We estimated in our 2016 review that 30 percent of the variation in sexual orientation is due to genetic variations. It may be this finding that led him to conclude that it is the biological environment that is mostly important. Bailey is convinced that men are born with their sexual orientation and that it is not subsequently acquired at any stage. He notes that there are several cases, I think there are seven throughout the professional literature, in which a baby boy was changed into a girl for medical reasons and was raised as a girl. When you follow these individuals through adulthood, you find that they are attracted to women and not to men.

In Baileys view, the best example of how biological-environmental factors can influence sexual orientation is the fraternal birth order effect. The phenomenon, whose existence is well established, he says, shows that the more older brothers a man has, the more likely he is to be homosexual. In practice, every older biological brother increases the probability that the youngest brother will be gay by about 33 percent. Thus, if the probability that a man with no older brothers will be gay is 2 percent, one older brother will increase the probability to 2.6 percent, and a second, third and fourth brother to 3.5 percent, 4.6 percent and 6 percent, respectively. Whats not yet clear is the reason for this.

In my mind, Bailey suggests, the best hypothesis as to why this happens is that a mothers immune system becomes increasingly active and produces antibodies against male proteins over successive births.

Fingers and hands

Behind this hypothesis is one of the most influential figures in the field, American-Canadian clinical psychologist and sexologist Ray Milton Blanchard. He was also among those who linked the fraternal birth order effect to another phenomenon of interest to scientists: the connection between being left-handed and having a same-sex orientation. The most extensive study in this regard was conducted in 2000, incorporating 20 different studies involving 7,000 gay male and female subjects and 16,000 heterosexual ones. It was found that gay men were 34 percent more likely to be left-handed. The situation was more extreme among lesbians: They were seen to have a 91 percent greater chance than straight women of writing with their left hand.

As a result, six years later, a research team led by Blanchard argued that the fraternal birth-order effect is relevant only among right-handed men. The reason is that, in any case, left-handed men who dont have older brothers already have a greater likelihood of being gay than right-handed men with such siblings.

A persons dominant hand turns out to be significant in another sense as well. An article published two years ago (about a study in which all the subjects had taken part in a gay pride parade in Toronto) found a connection between that hand and the gay persons role in bed: that is, the proportion of left-handed gays who defined their sexual behavior as passive or versatile (i.e., sometimes passive, sometimes not) was significantly higher than among those who described themselves as actives who clearly tended to be right-handed.

In research conducted over the years on the subject of the connection between sexual orientation and other attributes of the body, the hand holds a place of honor. But while Blanchard developed his theory on the basis of the whole hand, sometimes a few fingers are also enough: two, to be exact. In his 1998 study, British biologist John Manning confirmed a relatively old hypothesis, first put forward in Germany almost 150 years ago. Its gist is that the proportion between the length of index and ring fingers is, typically, different in men and women. Manning found that this phenomenon was detectable as early as age 2, which led to the observation that its source lies in the differences in testosterone and estrogen levels that already exist in the womb hereinafter: a biological-environmental factor.

Manning did not emphasize the element of sexual orientation in the two books and over 60 articles he wrote on this subject, but in the two decades that have elapsed since his study, more than 1,400 papers have been written on the ratio between the length of the second and fourth fingers (known as 2D:4D) and the connection between it and the level of risk of contracting certain diseases, as well as personality traits, cognitive and athletic abilities and sexual orientation.

One such study, published in 2010, maintained that straight and lesbian women are differentiated by the ratio between the length of the index and ring fingers, with lesbians tending to show a more masculine ratio i.e., closer to the average difference between the length of the fingers, among men. However, no such differences were found between gay and straight men.

Last year a team of scientists led by a British psychologist measured the fingers of 18 pairs of identical female twins, one lesbian, the other straight. Overall, differences in proportion were documented only in the lesbians and only in their left hand, and were comparable to the situation among men. This fact, the team concluded, could indicate a heightened exposure to testosterone in the womb but their study was based on a very small sample and drew much criticism. The critics charged that the conclusion was based on an overly simple means of measurement: of the way only two variables impacted each other. And, they added to bolster their argument, findings of studies involving those fingers have not been replicated in scientific experiments.

The field of gay science has been on a roll in recent years, but has a far longer history. Its modern phase dates to the early 1990s, when scientists began to publish increasing numbers of studies arguing that sexual orientation has a biological component. A leading scientist in this field is British-American neurobiologist Simon LeVay, who in 1990 performed autopsies on the bodies of 41 people: 19 gay men, 16 straight men and nine women. He discovered that the brain cells known as INAH-3 among the deceased gay men were relatively small, and closer in size to those of women than to heterosexual males.

In 1991, LeVay told Haaretz in a phone conversation, I published a study that got a lot of media attention, related to my observation that there was a region inside the hypothalamus that was different in size between men and women, and also between gay and straight men My additional finding was the difference in size between gay and straight men in this region inside the hypothalamus that is involved in the regulation of sexual behavior.

Adds LeVay, My general feeling is that there are certainly strong biological influences on peoples sexual orientation, but we cant say everything is genetic.

In the spirit of the period, and in light of the AIDS epidemic at the time, LeVay tried to be as cautious as possible about his conclusions. Its important to stress what I didnt find, he said in an interview to Discover magazine, in 1994. I did not prove that homosexuality is genetic, or find a genetic cause for being gay. I didnt show that gay men are born that way, [which is] the most common mistake people make in interpreting my work.

Three decades after publishing his study, he still thinks media coverage is doing an injustice to research even if its not his. Ive seen some headlines saying, basically, that this study [i.e., that of Ganna and his associates] shows its not genetic, or that are no gay genes, or something like that; and, of course, its not what the study shows at all.

Truly gay

In recent decades, scientific research (on men and women alike) in this realm has relied on an additional field: molecular genetics. The pioneer is geneticist Dean Hamer, who in 1993 conducted the first study of its kind.

We noticed that being gay, for males, tended to pass down through the mothers side of the family, he told Haaretz. And that is characteristic in genetics of something on the X chromosome because males get their X chromosomes from their moms That led us to look in families where there were gay brothers, to see if they shared anything on the X chromosome.

And thus, recalls Hamer, he and his team discovered Xq28: a genetic marker that plays a part in determining whether a person will be heterosexual or gay. He emphasizes that this is a factor, its not the factor and actually, overall, its not even the most important factor. He adds, Whats good about genetic studies, is that you know that whatever you find is a causal factor, because of course people are born with their genes, and its not something that changes over time.

LeVay, he explains, is looking directly at the brain, and were looking at what we think is building the brain and genes. Yet, its very difficult to know whether one was born with a brain like that, or whether that brain developed that way because of your behavior the causality is rather unknown.

At the same time, Hamer adds, That doesnt mean there arent specific pathways, because there has to be some sort of a pathway in the brain that controls sexual orientation. We know, for example, that the reason you become a male or a female is very simple: If you have a certain gene on the Y chromosome, you will produce male hormones, and if you have those you make a penis and scrotum and you become male. Accordingly, Theres probably some pathway in the brain that does same thing for sexual orientation, but were not going to discover it from genetics The answer will probably emerge from some sort of very sophisticated brain and developmental studies.

For 35 years, Hamer accumulated experience as a scientist at the National Institutes of Health in Bethesda, Maryland. That period is behind him. He doffed the white coat and now lives in Hawaii, where he makes films. But even if hes no longer occupied with research, it still occupies him.

Hamer: Back in the 1990s, I, along with all the scientists involved, believed that if we did good genetic studies wed find the important genes. For example, well find a gene that is responsible for the production of testosterone, and if its functioning was low, it would be possible to say that this is the cause of homosexuality in a particular person. But it turns out that it doesnt work that way. For every mental trait that has been studied everything you can imagine in the brain, for every single trait, theres a [vast number of] genes not to mention a host of complex societal and environmental factors.

For his part, Hamer has much praise for the Broad Institute study: The new GWAS study is really important, because for the very first time they used a huge sample and they mapped every inch of the genome. And this has never been done before. All the other studies were much smaller, or used many fewer genetic markers. But he also demurs: Whats very important is to look at what they actually analyzed. They didnt analyze people who were gay or lesbian, but anyone who had one single same-sex experience, which is quite different... They were measuring something more like openness to sexual experimentation.

As Hamer sees it, If you look for those five markers, or even just the three strongest markers, they are not necessarily found in people who actually identify as gay or lesbian. If you take people who are gay, like me, and look for those markers theyre not significantly there.

Hamer thinks that the whole field is lagging behind because of insufficient research, owing to the stigmas that plague the subject. I dont think sexuality is any more complicated than many other areas of human personality and individual differences, he observes, noting, We formally established that male sexuality is something that is deeply ingrained in people, its not any sort of choice really. It starts really early in life, and it has a major biological component to it. But, how it works? What the biological component is? Were completely unaware and dont know anything, and we barely know more than we did 25 years ago, or in the 1940s, when Kinsey did his work, to be honest.

Hamer was referring to biologist Alfred Kinsey, who in 1948 stunned the American public with his book, Sexual Behavior in the Human Male, which addressed previously taboo subjects, and challenged the traditional beliefs and existing knowledge about human sexuality. Kinsey had conducted a survey of men, which found that 37 percent of his subjects said they had undergone a homosexual experience of some kind, and 10 percent said they had been exclusively gay for three years of their adult life a statistic which to this day is generally said to represent the proportion of people engaging in same-sex behavior.

At the same time, subsequent studies reveal that the percentage of people who define themselves as exclusively homosexual is far lower, though it fluctuates from one article to the next. For example, a 2011 survey of nine different studies on the subject revealed that approximately 3.5 percent of Americans identify themselves as gays, lesbians or bisexuals. A poll involving 1,000 Jewish Israelis in 2012 found that 11.3 percent of the male respondents and 15.2 percent of the female ones said they felt an attraction to members of the same sex. However, only 8.2 percent of the men categorized themselves as gay or bisexual, while 4.8 percent of the women said they were lesbian or bisexual.

For his part, Ganna, of the Broad Institute, understands some of the criticism of his research. What we studied is not related directly to the biology, but to extended environmental factors related to it. Its not about our sample size once you have a lot of individuals, you can capture very small effects. But are these directly influencing same-sex behavior, or other things related to this topic? As a medical example, think about a study that looks for associations between genetic markers and lung cancer. In that example, what we found are genetic variants regarding how much you smoke, which is related to lung cancer.

One of the lessons, and one of the most interesting points arising from the study has to do, says Ganna, with the mode of measurement that had been in use since 1948, when Kinseys scale ranked individuals as being between 0 (totally heterosexual) and 6 (totally homosexual).

Ganna: Basically, the tendency is to locate individuals on a continuum. You can supposedly be anywhere between 100 percent heterosexual to 100 percent homosexual, which implies that the more youre homosexual, the less youre heterosexual, and vice versa. We show that this assumption actually doesnt hold water: When we look at the genetic data, its not that straightforward, theres no simple continuum of sexuality.

So, actually, you are refuting the Kinsey scale?

Ganna: Thats exactly one of our conclusions. What were now doing is, rather than asking people to put themselves on a scale somewhere between being exclusively heterosexual or exclusively homosexual, we ask them how much theyre attracted to men and women. You could be attracted to either of them, very attracted to both of them or to one more than the other. And that information will be crossmatched with genetic markers.

In the final analysis, he adds, We showed that this is just another natural human variation. Sexual orientation, similar to many other behavioral traits, is complicated and is composed of different factors. The interesting thing is how genetics and environment work together. If you think about how much more prevalent same-sex behavior has become lately, people engage in it more than in the past. And thats clearly not because our genetics are changing. Its because of the environment, because society is becoming more open and laws are changing.

Further research should focus on the relationship between environmental factors and genetics, Ganna says, and on how they interact. Its somewhat misleading to think of nature and nurture as separate aspects; they both contribute. So, it would be wrong to say that you can use only DNA to predict if someone will engage in same-sex behavior, but you also cant say its simply a [matter of] choice.

In summary, he says, I think that the more people who will understand that there are genetic and environmental components to sexual behavior, the better and this is a message that goes beyond just sexuality.

Choice and lifestyle

However, the relationship between science and the environment, and particularly the people living in it, is a complicated one. The subject definitely should be studied, but the social aspect of it is problematic, says LeVay, the neurobiologist. I am gay myself, and I feel strongly that gay people should be valued and accepted into society, regardless of what caused their sexual orientation. I dont think its vital for gay liberation to prove that gay people cant help but be gay there are plenty of other reasons [for accepting them], including basic human rights.

At the same time, he adds, this issue is socially relevant, because of traditional notions that see same-sex relations as a choice, a lifestyle or sinful behavior.

In recent years, there have been many studies showing that peoples attitudes toward homosexuality are closely tied to their beliefs about what makes people gay, says LeVay, citing a survey that showed there was a high probability that people who think homosexuality is a choice will object to a gay person being their childrens teacher which in a way might make sense, he adds: If you think being gay is something infectious, socially contagious, and you didnt want your kid to be gay, then you wouldnt want their teacher to be gay ... It follows that demonstrating that biological factors are involved, helps counter those ideas. Still, Im a bit ambivalent about the use of this type of research as some sort of a political weapon in the struggle for gay rights.

The Broad Institute study contains a reminder of the problems and stigmas that still exist with regard to the LGBTQ community. One of the parameters it considers are genetic correlations between genes that are ascribed to homosexuality, and certain psychological problems.

Bailey, the psychologist: One thing that was perceived as controversial, was to look for and find a genetic overlap between homosexual sex genes and genes associated with depression. Its not the same as saying all people who engage in homosexual sex are depressed for genetic reasons, but its also not something that can be easily ignored. There are assumptions that the higher rates of depression among gay men and lesbians is due to the way they are mistreated by society, but the evidence for that is not so overwhelming. There is also the fact, for example, that you have as high a rate of depression among homosexual men in the Netherlands, which is very tolerant, as you have in some less tolerant places, like the United States.

Ganna, for his part, tries to soften that criticism: Even if we see genetic overlap, or correlation, it is not set in stone that weve found a biological mechanism that causes depression and same-sex behavior, he says. There are many explanations for why this one genetic marker is associated with both things. But finding these correlations help us study human traits in general.

In the meantime, there is a price to be paid for conducting research in this realm, which all those involved must be aware of. Reminders of this abound, and are almost routine. In some cases whats at stake is not even a groundbreaking study or one of tremendous scientific importance. In 2017, for example, two researchers from Stanford published an article stating that gay men are predicted to have smaller jaws and chins, slimmer eyebrows, longer noses, and larger foreheads; the opposite should be true for lesbians. In the next stage, they created a facial-recognition program with the aid of more than 14,000 images taken from a singles site of straights and LGBTQs. The program was able to distinguish between gays and lesbians and heterosexuals with an accuracy of 81 percent for men and 71 percent for women, in contrast to an average rate of successful human guesses of 61 percent and 54 percent, respectively. Even though the program achieved relatively impressive results, the study as such drew widespread criticism not unusual for researchers engaged in such studies.

The Stanford gays identification program may be an extreme example, in this respect, but its also a byproduct of the considerable surge in studies in this field, a trend that began in the early 1990s. Together with the scientific community, media interest in the subject of same-sex orientation and its causes has contributed substantially to transmitting messages and shaping public opinion.

In the United States, this can be seen in a series of polls conducted by Gallup, Inc. The first one, conducted in 1977, found that only 13 percent of the respondents believed that homosexuality is an innate tendency, while 56 percent attributed it to environmental factors. This approach remained largely constant until the period between 1989 and 1996, when the rate of those supporting the innate thesis leaped from 19 percent to 31 percent; by 2001, it stood at 40 percent. Almost a decade and a half later, the annual poll produced, for the first time, a larger proportion who agreed with the innate argument. The latest survey, from the end of last year, showed this trend continuing: More than half of the American public believes that gay people are born with their sexual orientation, whereas only 30 percent attribute it to environmental factors (10 percent said both factors play a part, 4 percent cited other factors and 6 percent said they werent sure).

Changes in the perceptions of the origins of sexual orientation are having a pronounced effect on the struggle LGBTQ individuals are waging for equal rights. The latest Gallup poll shows that an absolutely majority (88 percent) of those who believe that homosexuality is an innate trait also support legitimizing same-sex marriages. In contrast, most of those who see this orientation as being environmentally driven (61 percent) are against.

When it comes to public opinion, which is very important, the born this way idea has been really resonant and has had a very positive impact on society, Hamer maintains. Public opinion polls asked people whether they think [gays] were born this way or not, and we know that believing that homosexuality is innate correlates with having positive feelings toward gay rights. Overall, its been important in educating the public about who we are, as gay people.

Such messages are reaching Israel as well. A poll conducted by the Dialog Institute for Haaretz at the end of 2013 found that 70 percent of those questioned favored full rights for same-sex couples, while 64 percent specifically backed their right to surrogacy. However, two polls conducted in the wake of the surrogacy law protest in July 2018 presented slightly lower numbers: About 57 percent of respondents expressed support for the right of same-sex male couples to surrogacy.

These polls did not ask Israelis whether they believe the origin of same-sex orientation is innate or environmental. If you ask Bailey, though, that doesnt really matter.

Ive gone to great lengths to try to persuade people not to base equal rights for gay people on the causal hypothesis, he says. Its a terrible idea to say gay people should have equal rights because they were born that way. Its terrible in part because some criminals might be born that way, and you dont want to them to have the same rights. Being gay doesnt harm anybody, other than people who are close-minded and easily offended. Preventing people from expressing their homosexuality is quite destructive for them. Thats true whether gay people are born that way or not.

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Is sexual orientation genetic? Yes and no, an extensive study finds - Haaretz

Sexual orientation cannot be changed at will, lawyers argue – The Straits Times

Sexual orientation cannot be wilfully changed and is a product of genetic and environmental factors, said lawyers arguing for the repeal of Section 377A of the Penal Code.

They argued that the law, which criminalises acts of "gross indecency" between men, violates Article 9 of the Constitution guaranteeing the right to life and personal liberty, and Article 12 guaranteeing equal protection before the law.

The legal team, consisting of Mr Eugene Thuraisingam, Mr Suang Wijaya and Mr Johannes Hadi of Eugene Thuraisingam LLP, represented disc jockey Johnson Ong Ming in the High Court yesterday in the second of three cases to be brought against Section 377A this month.

The Attorney-General's Chambers (AGC) has been listed as the respondent in all of the cases.

Mr Ong's lawyers presented expert evidence from six medical professionals to back up their claims, including three called by Mr Ong and three called by the AGC.

Those called by Mr Ong were British psychiatrist Dinesh Bhugra, a professor of mental health and diversity at the Institute of Psychiatry at King's College London; Dr Jacob Rajesh, a senior consultant psychiatrist at the Promises Clinic in Novena Medical Centre; and American public health and epidemiology professor Chris Beyrer of the Johns Hopkins Bloomberg School of Public Health.

Those called by the AGC were Dr Cai Yiming, an emeritus consultant in the Department of Developmental Psychiatry at the Institute of Mental Health; retired geneticist John Tay Sin Hock, the former head of the Human Genetics division at the National University of Singapore; and Dr Derrick Heng Mok Kwee, group director of the Health Ministry's Public Health Group.

The experts on both sides largely agree that sexual orientation cannot be wilfully changed and that one's genes and non-social environmental factors such as exposure to different levels of hormones in the womb are contributors to one's sexual orientation, the lawyers argued.

There is also no credible scientific evidence that "conversion therapy" aimed at changing sexual orientation is safe or effective, they added.

But the experts differed on whether choice and social factors like culture play a role as well.

Dr Cai said there is "very little we can scientifically conclude about whether there is choice in sexual orientation". Dr Tay said that genetics may play some part in determining sexual orientation but is not the sole cause of it, suggesting that culture plays a role as well.

Mr Ong's lawyers contended that the scientific literature Dr Cai cited contradicted his conclusion. They also argued that Dr Tay did not cite any evidence to support his claim that cultural factors play such a role.

"It is absurd, irrational and discriminatory to criminalise a person on the basis of his natural, unchangeable identity and for non-harmful private acts," the team said in a statement to the media yesterday.

The lawyers noted that their case differs from a previous case brought against Section 377A in 2010 by Mr Tan Eng Hong, whose lawyer had argued that a person's sexual orientation is biologically determined. Mr Tan had provided the court with statements from medical and scientific bodies which were not formally entered as evidence, they said.

"For the first time, there is expert evidence before the courts on the nature of sexual orientation," the lawyers said in their statement.

The first of the three recent cases, brought by Mr Bryan Choong Chee Hong, 42, the former executive director of lesbian, gay, bisexual and transgender (LGBT) non-profit Oogachaga, was heard last week.

The third case, brought by LGBT activist and retired doctor Tan Seng Kee, was also heard yesterday.

Mr M. Ravi of Carson Law Chambers, who represented Dr Tan, argued that other laws make it legally obligatory for anyone to report those who violate Section 377A, including gay men themselves, their friends or family members and their medical care providers.

For example, Section 424 of the Criminal Procedure Code (CPC) states that every person aware of the commission of - or intention to commit - any arrestable offence punishable under Chapter XVI of the Penal Code, among others, shall report that commission or intention to the police. Section 377A falls under Chapter XVI of the Penal Code.

Mr Ravi argued that Parliament's stance that Section 377A will not be proactively enforced "interferes with Article 9(1) of the Constitution, as it leads to an inconsistent and arbitrary application of criminal procedure as well as being incongruous with the mandatory obligation" under Section 424 of the CPC.

The three cases were heard by Justice See Kee Oon in chambers and were not open to the public.

The AGC began its submissions yesterday, which are expected to conclude at the next hearing tomorrow.

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Sexual orientation cannot be changed at will, lawyers argue - The Straits Times

Adam and Eve Are Possible: A Second Bite at the Genetic Apple – Christianheadlines.com

An oft-repeated claim by skeptics is that geneticists have disproved the possibility of Adam and Eve. Because existing human genetic diversity is so great, there can be no original couple from whom all people are descended.

Or, thats what were told.

Biology professor and author Dennis Venema summarizes this argument in his book, Adam and the Genome. In it, he claims that every genetic analysis estimating ancestral population sizes has agreed that we descend from a population of thousands, not a single ancestral couple.

Some Christian authors have reacted to this apparent consensus by proposing new ways of reading Genesis that make Adam and Eve either mythological or not really our first parents. The goal has been to accommodate theology and the Bible to what were told is settled science.

But what if the science on Adam and Eve isnt so settled? Thats the argument of a new paper by Discovery Institute senior fellow and developmental biologist Ann Gauger and Swedish mathematician Ola Hssjer, recently published in the journal, BIO-Complexity.

In order to test whether it really is impossible to account for modern variation in human beings by starting with just two people, these researchers did something that, incredibly, no one had tried before: They started with just two people, and ran the numbers.

Using accepted population growth and mutation rates, Gauger and Hssjer programmed a computer to start with a genetic Adam and Eve and replicate the known distribution of diversity in todays human population. Their results, to put it simply, fly in the face of the much-touted consensus.

According to their model, a couple who shared some genetic markers could generate all the diversity we see today within about 2 million yearswhich Venema and others claim is impossible.

However, given two people who share no genetic markersin other words, two people who werent born but were created with four unique sets of chromosomesthat time frame drops to a few hundred thousand, not millions, of years.

Writing at Evolution News, Gauger points out that further tweaks in the rates of population growth, structure, mortality, birth, and mutation could place that theoretical first couple even more recently in history.

In any case, the authors are careful to note that the point of their paper was not to date Adam and Eve, or even to prove from a genetic standpoint that they existed. Rather, they just wanted to demonstratecontrary to the oft-repeated claimthat it is possible for all human beings to have descended from an original pair.

Of course, much more work remains to be done, but the paper has served to clarify two things.

First, scientists assumptions about the past can change their results. Gauger explains that once hurdles in computing power were overcome, this experiment was an obvious way to test existing dogma on human origins. But in her words, no one bothered because They believed that starting from two was useless.

In fact, many researchers failed to use standard methods for modeling population genetics because of their baked-in evolutionary assumptions. For instance, one popular tool relies on comparisons between human and chimpanzee DNA to track mutationssomething Gauger points out is useless if we dont share a common ancestor with chimps.

Second, and more importantly, this paper hints at how tentative so-called settled science can be. Christians who rush to revise their understanding of characters like Adam and Eve to make way for the latest consensus should think more about the theological consensus theyre tinkering with, like the fall, the image of God, original sin, and creation.

They should also consider all the un-tinkering they may have to do one day when that scientific consensus changes.

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BreakPointis a program of the Colson Center for Christian Worldview. BreakPoint commentaries offer incisive content people can't find anywhere else; content that cuts through the fog of relativism and the news cycle with truth and compassion. Founded by Chuck Colson (1931 2012) in 1991 as a daily radio broadcast, BreakPoint provides a Christian perspective on today's news and trends. Today, you can get it in written and a variety of audio formats: on the web, the radio, or your favorite podcast app on the go.

John Stonestreetis President of the Colson Center for Christian Worldview, and radio host ofBreakPoint,a daily national radio program providing thought-provoking commentaries on current events and life issues from a biblical worldview. John holds degrees from Trinity Evangelical Divinity School (IL) and Bryan College (TN),and is the co-author ofMaking Sense of Your World: A Biblical Worldview.

Publication date:November 18, 2019

Photo courtesy:Getty Images/Digital Imagination

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Adam and Eve Are Possible: A Second Bite at the Genetic Apple - Christianheadlines.com

InterVenn Biosciences Announces Positive Interim Clinical Trial Results and Appoints Biotech Veteran Klaus Lindpaintner, M.D. as Chief Scientific and…

REDWOOD CITY, Calif.--(BUSINESS WIRE)--

InterVenn Biosciences, a company in the life sciences and technology sector, is pleased to announce that the interim results of its prospective clinical trial for its Ovarian Cancer Clinical Decision Tool have successfully exceeded its milestones and expectations.

This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20191118005886/en/

The clinical validation trial is currently ongoing in the United States, Malaysia, and the Philippines with women from five different ethnic groups Caucasian, Indian, Chinese, Malay, and Filipino taking part. The full clinical trial is expected to be completed in April 2021.

The trial, called InterVenn Ovarian Cancer Liquid Biopsy (V.O.C.A.L.), is aimed at confirming that a novel blood test based on mass spectrometry data processed by a proprietary, artificial intelligence- and machine learning-driven algorithm exceeds the accuracy of currently available approaches to distinguish between malignant and benign pelvic tumors, with a primary focus on early recognition of ovarian cancer, the deadliest of gynecological malignancies.

The interim results confirmed that the InterVenn test performance significantly exceeds that of the current state-of-the-art ovarian cancer test, CA 125, with both markedly better specificity and sensitivity. The V.O.C.A.L. test analyzes glycoproteomic signatures as highly accurate biomarkers for disease states, as well as for advanced drug target discovery. By combining AI and mass spectrometry, InterVenns technology provides unprecedented power to leveraging the heretofore largely inaccessible, vast information content of the glycoproteome for the improvement of health care.

These interim results clearly demonstrate the power and performance of our AI and mass spectrometry platform. We were consistently able to differentiate malignant from benign tumors with unparalleled specificity and sensitivity using only a blood test - weve set a newer, much higher, standard for performance, said InterVenn CEO, Aldo Carrascoso.

This performance means that we were able to detect not only the more common epithelial ovarian cancer but also rare ovarian cancer subtypes aside from non-ovarian primary cancers such as lung, colorectal and others. These findings are of major clinical importance, since 20% of all women will develop an ambiguous pelvic mass during their lifetime, and among those, 12%-18% are typically malignant. Being able, based on our blood test, to distinguish malignant pelvic masses from benign ones without having to undergo surgery will have a major impact on patient outcomes, unnecessary suffering, and health care expenditures.

Ovarian cancer ranks fifth in cancer deaths among women, according to the American Cancer Society, which reported that 22,250 were diagnosed with ovarian cancer in 2019, and that 13,980 died from the disease. InterVenn Biosciences V.O.C.A.L. test is more than just a new weapon bringing patients hope against a deadly disease; it is also a key example of how health AI and machine learning can be used in the health care space to address life-threatening diseases with a more proactive approach.

InterVenn Biosciences also announced the latest addition to its team, Klaus Lindpaintner, MD, MPH, FACP, FACMG, as Chief Scientific Officer and Chief Medical Officer, a role in which he will be the head all of InterVenns global scientific operations and clinical affairs.

Klauss previous roles include an assignment at Pfizer as VP and Global Head of Human Genetics and Computational Biomedicine, four years as CSO at Thermo Fisher Scientific, and many years as Sr. VP and Head of the Roche Center for Medical Genomics, where he was intimately involved in Roches transition to becoming the first major personalized health care company. Previous to that, Klaus served as a faculty member at Harvard Medical School and the Harvard School of Public Health.

We finally have the quintessential scientific leader in Klaus. He will be working closely with my two other co-founders, Carlito Lebrilla, Ph.D. Distinguished Professor of Chemistry, Biochemistry and Molecular Medicine at UC Davis, and Carolyn Bertozzi, Ph.D., Anne T. and Robert M. Bass Professor of Chemistry and Professor of Chemical & Systems Biology and Radiology at Stanford University to propel their foundational work, since InterVenns core science and approach is their legacy, added Carrascoso.

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Coupling Klaus strategic and translational experience with Carlitos high throughput mass spectrometry expertise and Carolyns glycobiology leadership makes for an unbeatable team. We are very fortunate to have Klaus on board; his deep expertise in medicine, genomics, and translational research will be a critical addition to the team.

To find out more about InterVenn Biosciences and how the company is leveraging artificial intelligence and mass spectrometry to transform medical technology, visit https://intervenn.bio. For all general and media inquiries about InterVenn Biosciences, please contact Andrea Vuturo by telephone at (877) 772-2205 or email press@venn.bio.

About InterVenn Biosciences

InterVenn Biosciences utilizes a proprietary glycoproteomic biomarker interrogation platform using AI and mass spectrometry for next-gen precision medicine. The companys applications include diagnostics/prognostics for ovarian, pancreatic, liver, breast, and kidney cancer, together with applications from the Vista suite of solutions for treatment and monitoring, immune profiling, patient stratification, and disease progression. For more information about InterVenn Biosciences, please visit the companys website.

Website: https://intervenn.bio/ LinkedIn: https://www.linkedin.com/company/intervenn/ LinkedIn (2): https://www.linkedin.com/in/klaus-lindpaintner-b327551b/ Clinical Trials: https://clinicaltrials.gov/ct2/show/NCT03837327?term=NCT03837327&rank=1 Mayo Clinic: https://www.mayoclinic.org/tests-procedures/ca-125-test/about/pac-20393295 American Cancer Society: https://www.cancer.org/cancer/ovarian-cancer/about/key-statistics.html Forbes: https://www.forbes.com/sites/tomtaulli/2019/10/12/ai-artificial-intelligence--whats-the-next-frontier-for-healthcare/ Science Daily: https://www.sciencedaily.com/releases/2019/02/190215082340.htm

InterVenn BioSciences 800 Chesapeake Drive Redwood City, CA 94063 United States of America

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InterVenn Biosciences Announces Positive Interim Clinical Trial Results and Appoints Biotech Veteran Klaus Lindpaintner, M.D. as Chief Scientific and...

How maternal Zika infection results in newborn microcephaly – Baylor College of Medicine News

The current study was initiated when a patient presented with a small brain size at birth and severe abnormalities in brain structures at the Baylor Hopkins Center for Mendelian Genomics (CMG), a center directed by Dr. Jim Lupski, professor of pediatrics, molecular and human genetics at Baylor College of Medicine and attending physician at Texas Childrens Hospital, said Dr. Hugo J. Bellen, professor at Baylor, investigator at the Howard Hughes Medical Institute and Jan and Dan Duncan Neurological Research Institute at Texas Childrens Hospital.

This patient and others in a cohort at CMG had not been infected by Zika virus in utero. They had a genetic defect that caused microcephaly. CMG scientists determined that the ANKLE2 gene was associated with the condition. Interestingly, a few years back the Bellen lab had discovered in the fruit fly model that ANKLE2 gene was associated with neurodevelopmental disorders. Knowing that Zika virus infection in utero can cause microcephaly in newborns, the team explored the possibility that Zika virus was mediating its effects in the brain via ANKLE2.

In a subsequent fruit fly study, the researchers demonstrated that overexpression of Zika protein NS4A causes microcephaly in the flies by inhibiting the function of ANKLE2, a cell cycle regulator that acts by suppressing the activity of VRK1 protein.

Since very little is known about the role of ANKLE2 or VRK1 in brain development, Bellen and his colleagues applied a multidisciplinary approach to tease apart the exact mechanism underlying ANKLE2-associated microcephaly.

The team found that fruit fly larvae with mutations in ANKLE2 gene had small brains with dramatically fewer neuroblasts brain cell precursors and could not survive into adulthood. Experimental expression of the normal human version of ANKLE2 gene in mutant larvae restored all the defects, establishing the loss of Ankle2 function as the underlying cause.

To understand why ANKLE2 mutants have fewer neuroblasts and significantly smaller brains, we probed deeper into asymmetric cell divisions, a fundamental process that produces and maintains neuroblasts, also called neural stem cells, in the developing brains of flies and humans, said first author Dr. Nichole Link, postdoctoral associate in the Bellen lab.

Asymmetric cell division is an exquisitely regulated process by which neuroblasts produce two different cell types. One is a copy of the neuroblast and the other is a cell programmed to become a different type of cell, such as a neuron or glia.

Proper asymmetric distribution and division of these cells is crucial to normal brain development, as they need to generate a correct number of neurons, produce diverse neuronal lineages and replenish the pool of neuroblasts for further rounds of division.

When flies had reduced levels of Ankle2, key proteins, such as Par complex proteins and Miranda, were misplaced in the neuroblasts of Ankle2 larvae. Moreover, live imaging analysis of these neuroblasts showed many obvious signs of defective or incomplete cell divisions. These observations indicated that Ankle2 is a critical regulator of asymmetric cell divisions, said Link.

Further analyses revealed more details about how Ankle2 regulates asymmetric neuroblast division. They found that Ankle2 protein interacts with VRK1 kinases, and that Ankle2 mutants alter this interaction in ways that disrupt asymmetric cell division.

Linking our findings to Zika virusassociated microcephaly, we found that expressing Zika virus protein NS4A in flies caused microcephaly by hijacking the Ankle2/VRK1 regulation of asymmetric neuroblast divisions. This offers an explanation to why the severe microcephaly observed in patients with defects in the ANKLE2 and VRK1 genes is strikingly similar to that of infants with in utero Zika virus infection, Link said.

For decades, researchers have been unsuccessful in finding experimental evidence between defects in asymmetric cell divisions and microcephaly in vertebrate models. The current work makes a giant leap in that direction and provides strong evidence that links a single evolutionarily conserved Ankle2/VRK1 pathway as a regulator of asymmetric division of neuroblasts and microcephaly, Bellen said. Moreover, it shows that irrespective of the nature of the initial triggering event, whether it is a Zika virus infection or congenital mutations, the microcephaly converges on the disruption of Ankle2 and VRK1, making them promising drug targets.

Another important takeaway from this work is that studying a rare disorder (which refers to those resulting from rare disease-causing variations in ANKLE2 or VRK1 genes) originally observed in a single patient can lead to valuable mechanistic insights and open up exciting therapeutic possibilities to solve common human genetic disorders and viral infections.

Others who contributed in this study are Hyunglok Chung, Angad Jolly, Marjorie Withers, Burak Tepe, Benjamin R. Arenkiel, Priya S. Shah, Nevan J. Krogan, Hatip Aydin, Bilgen B. Geckinli, Tulay Tos, Sedat Isikay, Beyhan Tuysuz, Ganesh H. Mochida, Ajay X. Thomas, Robin D. Clark and Ghayda M. Mirzaa. They are affiliated to one or more of the institutions: Baylor College of Medicine, Texas Childrens Hospital and the Jan and Dan Duncan Neurological Research Institute in Houston, TX; University of California at Davis and San Francisco; Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey; Marmara University School of Medicine, Istanbul, Turkey; Dr. Sami Ulus Research and Training Hospital of Women's and Children's Health and Diseases, Ankara, Turkey; Boston Childrens Hospital; Harvard Medical School, Boston, MA; Massachusetts General Hospital, Boston, MA; Loma Linda University Medical Center, Loma Linda, CA; University of Washington, Seattle, WA; and Seattle Children's Research Institute, Seattle, WA.

The study was funded by the National Institutes of Healths F32NS092270, NIH/NINDS R35NS105078, NIH U54NS093793, NIH R24OD022005, NIH/NINDS K08NS092898, Howard Hughes Medical Institute (HHMI), Medical Research Fellowship, Jordans Guardian Angels, a jointly funded NHGRI and NHLBI grant to the Baylor-Hopkins Center for Mendelian Genomics (UM1 HG006542) and the Huffington Foundation.

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How maternal Zika infection results in newborn microcephaly - Baylor College of Medicine News

Dicerna scores broad, ‘rest of liver’ deal with Novo Nordisk, bagging $225M in cash to hit some 30 targets with RNAi platform – Endpoints News

Turns out Dicerna wasnt done with deals yet after locking in $200 million upfront from Roche for a hepatitis B cocktail two weeks ago.

Novo Nordisk has signed on as the latest partner to its GalXC RNAi platform, handing over $175 million in cash to claim any and all targets of interest in liver-related cardio-metabolic diseases that are not already reserved in previous pacts. The Danish drugmaker which has signaled its interest to expand considerably beyond its core diabetes franchise into areas like NASH is also purchasing $50 million worth of Dicernas equity at a 25% premium of $21.93 per share. More research payments and milestones extending to the billions are on the line.

Dicerna CEO Doug Fambrough describes the deal as a capstone for its partnering efforts in the liver space and a further sign that the biotech has entered a more mature phase of partnering with increased scope and value.

In a call with analysts and investors following the announcement, he adopted a real estate analogy:

If you think of the liver as an island, there are individual properties on the island that we have partnered complement with Alexion, a couple of particular targets in NASH with BI, et cetera. The collaboration with Novo has as its purview the rest of the land on the island that is not partnered in any of the four existing collaborations and we will not be selling any additional real estates, so to speak, that Novo could choose to develop. This allows new insights that come from human genetics or frankly any source to inspire Novo to include a target in the collaboration.

Dicerna is tasked with discovery and preclinical candidate selection on a number of liver cell targets for disorders spanning chronic liver disease, NASH, type 2 diabetes, obesity, and rare diseases. Novo Nordisk has committed to $25 million per year during the first three years. While the duo hasnt disclosed how many years they expect the collaboration to run, the plan is to explore around 30 throughout the period.

But Dicernas ambitions here go beyond starting programs for bigger companies to take over. It has negotiated an option to opt into two drugs for more prevalent ailments after viewing clinical data generated by Novo allowing their clinical team to buy into successes without bearing the cost, Fambrough highlighted. Under the deal, it can also initiate the development of two orphan drugs that the bigger partner can opt in to.

The really broad collaboration is designed to focus less on individual genes than the potential of different combination approaches in a number of liver diseases, COO Jim Weissman said.

Internally, Dicerna has been applying its platform routinely to examine a list of genes associated with different cardiometabolic diseases, according to CSO Bob Brown.

We just routinely knock them out and then use the GalXC molecules we identified there to interrogate the gene function in the relevant disease models that we run routinely in house, he said on the call. Theres no direct alignment of lists yet, but weve interrogated approximately 40 genes this way in different models of cardiometabolic disease.

Novo has yet to identify the genes that they would like to start with, but Fambrough noted that the targets they have expressed interest in are still very much available.

Adding to previous deals with Boehringer Ingelheim, Alexion, Eli Lilly and Roche, the influx of capital from Novo should keep Dicerna fully funded for at least a year after the envisioned commercial launch of their lead program in primary hyperoxaluria, the management said.

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Dicerna scores broad, 'rest of liver' deal with Novo Nordisk, bagging $225M in cash to hit some 30 targets with RNAi platform - Endpoints News

Sexual orientation cannot be wilfully changed, say lawyers fighting to repeal Section 377A – The Straits Times

SINGAPORE - Sexual orientation cannot be wilfully changed and is a product of genetic and environmental factors, said lawyers arguing for the repeal of Section 377A of the Penal Code.

They argued that the law, which criminalises acts of "gross indecency" between men, violates Article 9 of the Constitution guaranteeing the right to life and personal liberty, and Article 12guaranteeing equal protection before the law.

The legal team, consisting of Mr Eugene Thuraisingam, Mr Suang Wijaya and Mr Johannes Hadi of Eugene Thuraisingam LLP, represented disc jockey Johnson Ong Ming in the High Court on Monday (Nov 18) in the second of three cases to be brought against Section 377A this month.

The Attorney-General's Chambers (AGC) has been listed as the respondent in all of the cases.

Mr Ong's lawyers presented expert evidence from six medical professionals to back up their claims, including three called by Mr Ong and three called by the AGC.

Those called by Mr Ong were British psychiatrist Dinesh Bhugra, a professor of mental health and diversity at the Institute of Psychiatry at King's College London; Dr Jacob Rajesh, a senior consultant psychiatrist at the Promises Clinic in Novena Medical Centre; and American public health and epidemiology professor Chris Beyrer of the Johns Hopkins Bloomberg School of Public Health.

Those called by the AGC were Dr Cai Yiming, an emeritus consultant in the Department of Developmental Psychiatry at the Institute of Mental Health; retired geneticist John Tay Sin Hock, who was the former Head of Division of Human Genetics at the National University of Singapore; and Dr Derrick Heng Mok Kwee, group director of the Public Health Group in the Ministry of Health.

The experts on both sides largely agree that sexual orientation cannot be wilfully changed and that biological factors such as one's genes and non-social environmental factors such as exposure to different levels of hormones in the womb are contributors to one's sexual orientation, the lawyers argued.

There is also no credible scientific evidence that "therapy" aimed at changing sexual orientation, such as reparative or conversion therapy, is safe or effective, they added.

But the experts differed on whether choice and social environmental factors like culture play a role in determining sexual orientation.

Dr Cai said there is "very little we can scientifically conclude about whether there is choice in sexual orientation".

Dr Tay said that genetics may play some part in determining sexual orientation but are not the sole cause of it, suggesting that culture plays a role as well.

Mr Ong's lawyers contended that the scientific literature cited by Dr Cai contradicted his conclusion.

They also argued that Dr Tay did not cite any evidence to support his conclusion that cultural factors play such a role.

"It is absurd, irrational and discriminatory to criminalise a person on the basis of his natural, unchangeable identity and for non-harmful private acts," the team said in a statement to the media summarising their arguments.

The lawyers noted that their case differs from a previous case brought against Section 377A in 2010 by Mr Tan Eng Hong, whose lawyer had argued that there was overwhelming evidence that a person's sexual orientation is biologically determined.

Mr Tan had provided the court with statements from medical and scientific bodies which were not formally entered as evidence, they said.

"For the first time, there is expert evidence before the courts on the nature of sexual orientation. In the previous cases, the court was only asked to take judicial notice of scientific facts which required a different legal test," the lawyers said in their statement.

The first of the three recent cases, brought by Mr Bryan Choong Chee Hong, 42, the former executive director of lesbian, gay, bisexual and transgender (LGBT) non-profit Oogachaga, was heard last week.

The third case, brought by LGBT activist and retired general practitioner Tan Seng Kee, was also heard on Monday.

Mr M. Ravi of Carson Law Chambers, who represented Dr Tan, argued that other laws make it legally obligatory for anyone to report those who violate Section 377A, including gay men themselves, their friends or family members, and their medical care providers.

For example, Section 424 of the Criminal Procedure Code (CPC) states that every person aware of the commission of - or the intention of any other person to commit - any arrestable offence punishable under Chapter XVI of the Penal Code, among others, shall report that commission or intention to the police. Section 377A falls under Chapter XVI of the Penal Code.

Mr Ravi argued that Parliament's stance that Section 377A will not be proactively enforced "interferes with Article 9(1) of the Constitution, as it leads to an inconsistent and arbitrary application of criminal procedure as well as being incongruous with the mandatory obligation" under Section 424 of the CPC.

The three cases were heard by Justice See Kee Oon in chambers and were not open to the public.

The AGC began its submissions on Monday and will conclude by the end of the day or at the next hearing on Wednesday.

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Sexual orientation cannot be wilfully changed, say lawyers fighting to repeal Section 377A - The Straits Times

The American Heart Association’s Annual Conference Comes to Philly This Weekend – Philadelphia magazine

News

Researcher Tom Cappola tells us about the latest clinical trials and medical breakthroughs to be announced during Scientific Sessions.

Chief of the cardiovascular medicine division in the Perelman School of Medicine at the University of Pennsylvania, Tom Cappola.

For the first time in its near 100-year history, the American Heart Association (AHA)will host its annual meeting in Philadelphia. AHAs Scientific Sessions is the largest cardiovascular meeting in the United States. On November 16-18, the meeting will attract nearly 18,000 attendees from more than 100 countries to the Pennsylvania Convention Center, and an additional two million medical professionals who will participate virtually in lectures and discussions about basic, translational, clinical and population science innovations aimed at reducing disability and deaths caused by cardiovascular disease and stroke.

The American Heart Association is excited to be in Philadelphia, said Michelle Kirkwood, director of National Science Media Relations for AHA. It has been on our wish list for some time, especially since the renovations at the Pennsylvania Convention Center and the citys landmark, robust nonsmoking laws that align directly with the American Heart Associations health and wellness goals. We are excited for our thousands of attendees to visit Philadelphia.

More than 610,000 people die of heart disease in the United States every year, according to the CDC. While heart disease is a leading cause of death for both men and women, it claims the lives of over 400,000 American women each year, or one death every 80 seconds. During the three-day meeting, more than 12,000 leading physicians, scientists, cardiologists and healthcare professionals in the global cardiovascular health community will host 850 educational sessions and more than 4,100 original research presentations to unveil the late-breaking science, clinical trials, and novel therapeutics and pathways that are shaping the future of cardiovascular care.

Its very fitting for Scientific Sessions to be here, chief of the cardiovascular medicine division in the Perelman School of Medicine at the University of Pennsylvania Tom Cappola said. We have the first medical school in the country and the first teaching hospital in the country. It makes sense that these new innovations would be presented in a place where theres already been so much innovation.

Cappola will be one of several Penn researchers leading the Cardiovascular Expert Theater, Innovations in Cardiovascular Therapies session during the meeting. Here are just a few big trends in heart care that Cappola says we can expect to learn more about during this weekends meeting:

Using artificial intelligence to monitor heart health

Artificial intelligence (AI) is having a big impact on cardiovascular care. Results from two preliminary studies to be presented this weekend will show AI can be used to accurately examine electrocardiogram (ECG) test results to possibly predict irregular heartbeat and risk of death. There will also be a presentation on the Apple Heart Study, which found that the Apple Watch and other wearable remote monitoring devices may be capable of detecting atrial fibrillation (aFib), an irregular and often rapid heartbeat that can lead to blood clots, stroke, heart failure and other complications.

Identifying new risk factors for aFib and stroke

George Mason University researchers will present results from two studies that found young people who smoke marijuana regularly have an increased risk of stroke. According to the study findings, young adults between the ages 18 and 44 who reported frequent use of marijuana, cigarettes and e-cigarettes were three times more likely to suffer stroke than young adults who did not smoke marijuana at all. The study also found that African-American males between the ages of 15 and 24 faced the highest risk of being hospitalized for arrhythmia.

In one Penn study to be presented this weekend, researchers found women who are diagnosed with peripartum cardiomyopathy (PPCM) during late pregnancy or within a month following delivery are more likely to experience restored cardiac function and improved outcomes compared to those who are diagnosed later in the postpartum period. The findings underscore the need for increased awareness and monitoring of heart failure symptoms, particularly among black women, who, on average, are diagnosed significantly later than white patients, according to study results.

Making advances in genetics and genomics

Another big trend at this years meeting will be the continued advancement in genetics and genomics, and how thats impacting cardiovascular care.

I think that genomic medicine has arrived and its arriving in waves, but it will ultimately affect all aspects of cardiovascular care, Cappola said. We have lots of people getting their 23andMe for sort of recreational purposes and they dont know what to do with it. But were starting to figure out what to do with that genetic information to improve care.

Another Penn Medicine study to be presented during the meeting will show why taller people may have an increased risk of developing atrial aFib. The research found a strong link between the genetic variants associated with height and ones risk for AFib, for the first time demonstrating that height may be a causal not correlated risk factor for the condition. Researchers hope insight from human genetics in large studies like this one will help them better understand causal risk factors for common disease.

It takes expertise to find links like this. Thats why researchers go to the American Heart Association meetings. You get all the experts together, they share their knowledge and this helps us to actually figure out what to do with this genetic information, Cappola said. Thats true across the board, but its particularly important for genomic medicine as it continues to advance.

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The American Heart Association's Annual Conference Comes to Philly This Weekend - Philadelphia magazine

Clear link between genetics and depressive symptoms uncovered – The Age

"It has a whole bunch of other things surrounding it, but it creates depressive symptoms."

According to SANE Australia, up to 4 per cent of Australians will develop BPD at some point in their life, with the symptoms usually manifesting in late adolescence.

Sufferers have trouble managing their emotions and impulses, and can also struggle to maintain a stable self-image.

The causes of BPD are not well understood, although they are believed to be a combination of biological and lifestyle factors.

Ms Collett said despite her diagnosis being relatively simple compared to other mental health issues, it was "frustrating" that there still wasnt a clear diagnosis and treatment for many sufferers.

Its hoped that new research from QIMR Berghofer Medical Research Institute could help change that, with scientists there identifying key areas on the human genome with direct links to depressive symptoms.

Senior study investigator Professor Eske Derks said the research uncovered seven distinct regions on the human genome with links to symptoms.

"We identified, for the first time, three genetic regions related to sleep problems, two for anhedonia [a loss of interest or pleasure in life], one related to changes in appetite, and one for depressed mood," Professor Derks said.

Overall, about one in 11 people, or 9 per cent of Australians, reported having depression or depressed feelings in 2014-15, according to figures from the Australian Bureau of Statistics.

The QIMR findings provide insight into why the symptoms of depression can vary hugely between patients, and they point the way to more targeted therapies.

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"In some patients, depression will manifest as a reduced appetite, while for others, there will be increased appetite," Professor Derks said.

"So normally if youre looking for the genetic risk factors for depression, you tend to collapse all of these symptoms together, even though they can be quite different from patient to patient."

Professor Derks said being able to accurately assess exactly what genes were in play for individual patients meant they would be able to get tailored treatment instead of the current method of "trial and error", where patients are prescribed the most common medication and then put on other drugs if that fails.

Ms Collett said it would be a comfort going forward to have a more certain diagnosis.

"Im naturally curious about my own health situation, so it would be really good to know the underlying reason why I have it. Was it genetics? Was it something that happened when I was a kid? Who knows?" she said.

The study, which examined genetic data and self-reported symptoms from 150,000 people from the UK Biobank, has been published in the journal Psychological Medicine.

Stuart Layt covers health, science and technology for the Brisbane Times. He was formerly the Queensland political reporter for AAP.

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Clear link between genetics and depressive symptoms uncovered - The Age

At-Home DNA Tests Still Need the ‘Human Touch,’ Say Panelists at Genomics Roundtable Workshop – National Academies of Sciences, Engineering, and…

By Stephanie Miceli | Nov. 13, 2019

When Sara Altschule took a 23andMe ancestry test, the results confirmed what she already suspected: She is 77 percent Ashkenazi Jewish. However, months later, after opting into add-on health tests, she received life-changing news: She had a BRCA2 gene mutation, which is particularly prevalent among Ashkenazi Jewish women. Altschules BRCA2 mutation meant her lifetime risk of developing breast cancer is about 69 percent; for ovarian cancer, it is about 17 percent.

As at-home genetic tests grow in popularity, some individuals have expressed concern about the complexities of the results. Speaking about her experience with at-home genetic testing at a recent workshop of the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine, Altschule told attendees, The results not only probably saved my life, but may have also saved the lives of people in my family who now know they are also BRCA2 positive. While empowering for her, she also wishes she had received the results from a genetic counselor not via email.

Traditionally, there have been two main types of genetic testing: traditional tests initiated by a doctor, and direct-to-consumer (at-home) tests. Most people do a combination of both, said keynote speaker Robert Nussbaum, chief medical officer of Invitae. About one-third of people who take an at-home test share the results with a provider, who can make appropriate referrals based on the results, he said.

Knowledge Is Power

After seeing a genetic counselor and getting a more comprehensive blood test, Altschule decided to undergo a preventive double mastectomy at the age of 31. I felt powerless during this process, and I wanted to take my power back. This was the easiest and toughest decision of my life, said Altschule.

Panelist Dorothy Pomerantz, who also received news of her BRCA status via 23andMe, said online test results are not a replacement for a one-to-one conversation with a trusted provider. Pomerantz considers herself lucky to have received actionable information, though she still has complicated feelings about how that information was delivered.

This information is complicated and nuanced. We need someone to walk us through the dark, said Pomerantz. When my genetic counselor confirmed my results, she asked me what I needed in that moment. Did I need to vent? Did I want information? Did I need to be alone or cry?

Affordability Is Part of Accessibility

Aside from having access to genetic testing in the first place, Altschule and Pomerantz acknowledged they had the resources to get immediate follow-up testing and surgery.

What about those who cant get their doctors on the phone? What about those who dont have doctors at all? asked Pomerantz.

Without insurance, someone with a risk of cancer may not have those options, said Sadie Hutson, director of the Cancer Genetics Program at Pikeville Medical Center in Kentucky. In the Appalachian communities where she works, coal mining, the dominant industry, has been linked to high incidences of lung cancer. However, many people have to live with the knowledge of that risk and the inability to act on it.

Affordability of genetic testing is a very real problem, said Hutson.

There is also a dire shortage of genetic counselors in the region, she added. Hutson has partnered with mobile clinics and faith-based organizations that provide genetic testing and counseling free of charge, particularly to the regions Medicaid population. Hutson also noted the importance of offering free follow-up testing to family members.

Panelists discussed the accessibility of direct-to-consumer genetic tests for underserved and rural populations and ways to increase engagement, literacy, and reduce disparities.

Steps Toward Including All of Us

We have a skewed evidence base in human genomics research, said Malia Fullerton, professor of bioethics and humanities at the University of Washington School of Medicine. Because certain populations are underrepresented in research, when they do receive genetic testing, there is a lack of data that they can act on. Joyce Tung, 23andMes vice president of research, acknowledged most of the companys customers are white people of European descent and it wants to change that.

We cant provide information that we dont have, she said. A lack of data can halt progress and new discoveries in diseases that primarily affect diverse communities such as sickle cell disease, which is prevalent in people of African descent. Tung highlighted several initiatives at 23andMe that aim to improve diversity, including the African American Sequencing Project, Global Genetics Project, and the Latino Sequencing Project.

In addition, underrepresented populations are more likely to receive uncertain test results, often because their genetic variants have not been well-studied. As a result, they may experience unnecessary testing or lifestyle changes, or false reassurance, and the psychological burden that comes with it, Fullerton said.

To address the lack of diversity in genetic databases, last year, the National Institutes of Health launched its All of Us research initiative. It aims to collect data from 1 million Americans from various population groups.

The vast majority of 23andMe consumers 80 percent agree to share their data in the hopes of contributing to science and new insights about health and disease. However, the current lack of diversity in genetic databases risks hindering the science.

There is a critical opportunity for multiple sectors to come together to ensure proper inclusion of all individuals in genetic and genomic testing, said Hutson.

Integrating Consumer Genomics into Health Care

Speakers throughout the day acknowledged the challenges around integrating consumer genomics data into clinical care. Consumers often want information fast, but health systems may not be able to quickly provide the confirmation genetic testing following a positive DTC result.

This continuum of care has a lot of access points and a lot of people trying to find pathways, but really it is reflective of the overall health system, said Siobhan Dolan, a professor and vice chair for research at Albert Einstein College of Medicine. Maybe genetics has given people an opportunity to find alternative routes and maybe we could continue to learn from that try to put something together that is continuous.

Visit http://nationalacademies.org/hmd/Activities/Research/GenomicBasedResearch/2019-OCT-29.aspx to view speaker presentations and other information about the Workshop on Exploring the Current Landscape of Consumer Genomics.

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At-Home DNA Tests Still Need the 'Human Touch,' Say Panelists at Genomics Roundtable Workshop - National Academies of Sciences, Engineering, and...

How in utero Zika virus infection can lead to microcephaly in newborns: Baylor research – Outbreak News Today

A new study led by researchers at Baylor College of Medicine revealed how in utero Zika virus infection can lead to microcephaly in newborns. The team discovered that the Zika virus protein NS4A disrupts brain growth by hijacking a pathway that regulates the generation of new neurons. The findings point at the possibility of developing therapeutic strategies to prevent microcephaly linked to Zika virus infection. The study appeared Thursday in the journal Developmental Cell.

Patients with rare genetic mutations shed light on how Zika virus causes microcephaly

The current study was initiated when a patient presented with a small brain size at birth and severe abnormalities in brain structures at the Baylor Hopkins Center for Mendelian Genomics (CMG), a center directed by Dr. Jim Lupski, professor of pediatrics, molecular and human genetics at Baylor College of Medicine and attending physician at Texas Childrens Hospital, said Dr. Hugo J. Bellen, professor at Baylor, investigator at the Howard Hughes Medical Institute and Jan and Dan Duncan Neurological Research Institute at Texas Childrens Hospital.

This patient and others in a cohort at CMG had not been infected by Zika virus in utero. They had a genetic defect that caused microcephaly. CMG scientists determined that the ANKLE2 gene was associated with the condition. Interestingly, a few years back the Bellen lab had discovered in the fruit fly model that ANKLE2 gene was associated with neurodevelopmental disorders. Knowing that Zika virus infection in utero can cause microcephaly in newborns, the team explored the possibility that Zika virus was mediating its effects in the brain via ANKLE2.

In a subsequent fruit fly study, the researchers demonstrated that overexpression of Zika protein NS4A causes microcephaly in the flies by inhibiting the function of ANKLE2, a cell cycle regulator that acts by suppressing the activity of VRK1 protein.

Since very little is known about the role of ANKLE2 or VRK1 in brain development, Bellen and his colleagues applied a multidisciplinary approach to tease apart the exact mechanism underlying ANKLE2-associated microcephaly.

The fruit fly helps clarify the mystery

The team found that fruit fly larvae with mutations in ANKLE2 gene had small brains with dramatically fewer neuroblasts brain cell precursors and could not survive into adulthood. Experimental expression of the normal human version of ANKLE2 gene in mutant larvae restored all the defects, establishing the loss of Ankle2 function as the underlying cause.

To understand why ANKLE2 mutants have fewer neuroblasts and significantly smaller brains, we probed deeper into asymmetric cell divisions, a fundamental process that produces and maintains neuroblasts, also called neural stem cells, in the developing brains of flies and humans, said first author Dr. Nichole Link, postdoctoral associate in the Bellen lab.

Asymmetric cell division is an exquisitely regulated process by which neuroblasts produce two different cell types. One is a copy of the neuroblast and the other is a cell programmed to become a different type of cell, such as a neuron or glia.

Proper asymmetric distribution and division of these cells is crucial to normal brain development, as they need to generate a correct number of neurons, produce diverse neuronal lineages and replenish the pool of neuroblasts for further rounds of division.

When flies had reduced levels of Ankle2, key proteins, such as Par complex proteins and Miranda, were misplaced in the neuroblasts of Ankle2 larvae. Moreover, live imaging analysis of these neuroblasts showed many obvious signs of defective or incomplete cell divisions. These observations indicated that Ankle2 is a critical regulator of asymmetric cell divisions, said Link.

Further analyses revealed more details about how Ankle2 regulates asymmetric neuroblast division. They found that Ankle2 protein interacts with VRK1 kinases, and that Ankle2 mutants alter this interaction in ways that disrupt asymmetric cell division.

The Zika connection

Linking our findings to Zika virus-associated microcephaly, we found that expressing Zika virus protein NS4A in flies caused microcephaly by hijacking the Ankle2/VRK1 regulation of asymmetric neuroblast divisions. This offers an explanation to why the severe microcephaly observed in patients with defects in the ANKLE2 and VRK1 genes is strikingly similar to that of infants with in utero Zika virus infection, Link said.

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For decades, researchers have been unsuccessful in finding experimental evidence between defects in asymmetric cell divisions and microcephaly in vertebrate models. The current work makes a giant leap in that direction and provides strong evidence that links a single evolutionarily conserved Ankle2/VRK1 pathway as a regulator of asymmetric division of neuroblasts and microcephaly, Bellen said.

Moreover, it shows that irrespective of the nature of the initial triggering event, whether it is a Zika virus infection or congenital mutations, the microcephaly converges on the disruption of Ankle2 and VRK1, making them promising drug targets.

Another important takeaway from this work is that studying a rare disorder (which refers to those resulting from rare disease-causing variations in ANKLE2 or VRK1 genes) originally observed in a single patient can lead to valuable mechanistic insights and open up exciting therapeutic possibilities to solve common human genetic disorders and viral infections.

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How in utero Zika virus infection can lead to microcephaly in newborns: Baylor research - Outbreak News Today

Taller People have Increased Risk of Irregular Heartbeat – News18

Researchers have found that taller people have an increased risk of developing atrial fibrillation (AFib), an irregular and often rapid heartbeat that can lead to stroke, heart failure and other complications.

The research, which reveals a strong link between the genetic variants associated with height and one's risk for AFib, is the among the first to demonstrate that height may be a causal--not correlated--risk factor for AFib.

Researchers found that the risk for AFib climbed as one's height increased, with every one-inch increase in height translating to about a three percent increase in risk of Afib--independent of other clinical factors--as compared to those at average height (5 feet and 7 inches).

"Our findings suggest it may be beneficial to incorporate height into risk-prediction tools for AFib," said the study's lead author Michael Levin from University of Pennsylvania.

"While current guidelines advise against widespread screening for AFib, our findings show that a certain group of patients--specifically, very tall patients--may benefit from screening," Levin added.

AFib, which affects more than 33 million people worldwide, is a common, abnormal heart rhythm.

There are a number of clinical risk factors for developing AFib, including high blood pressure, heart disease, diabetes, and obesity.

Observational studies, examining population-level data, have found that taller individuals appear to have a higher risk of developing AFib.

To further examine the association between height and Afib, the research team leveraged data from the Genetic Investigation of Anthropometric Trials (GIANT) consortium, which studied more than 700,000 individuals to identify genetic variants associated with height.

They also examined data from the Atrial Fibrillation Genetics (AFGen) consortium, which studied more than 500,000 individuals to identify genetic variants associated with AFib.

The authors employed a statistical method which uses genetics to precisely estimate the relationship between two traits.

Their analysis revealed that genetic variants associated with height were also strongly associated with Afib, suggesting that increased height may be a cause of atrial fibrillation.

This relationship remained strong even after adjusting for traditional AFib risk factors, like heart disease, high blood pressure, and diabetes, among others.

From there, researchers used a similar statistical method to conduct an individual-level analysis of nearly 7,000 individuals enrolled in the Penn Medicine Biobank.

They found that height, and genetic variants associated with height, are strongly associated with an increased risk of AFib, independent from traditional clinical and echocardiographic risk factors.

"These analyses show how we can use human genetics to help us better understand causal risk factors for common disease," said the study's senior author Scott Damrauer.

The study is scheduled to be presented at American Heart Association 2019 Scientific Sessions in Pennsylvania, US.

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Taller People have Increased Risk of Irregular Heartbeat - News18

In Down syndrome mouse model, scientists reverse intellectual deficits with drugs – University of California

In a surprising finding using the standard animal model of Down syndrome (DS), scientists were able to correct the learning and memory deficits associated with the condition the leading genetic cause of cognitive disability and the most frequently diagnosed chromosomal disorder in the U.S. with drugs that target the bodys response to cellular stresses.

In a study published Nov. 14, 2019, in the journal Science, a team led by researchers at UC San Francisco and Baylor College of Medicine show that some of the intellectual impairments associated with DS may be traced to altered protein production in a region of the brain called the hippocampus, which is central to learning and long-term memory formation.

But in the so-called Ts65Dn mouse, engineered to capture genetic, behavioral and cognitive features of human Down syndrome, these changes can be undone. When the researchers administered drugs that target one of the cells key stress response pathways, they were able to bring protein levels back to normal, which caused the cognitive deficits typical of the Ts65Dn mouse to vanish.

Although the cognitive features of DS have generally been thought of as irreversible, the researchers say, these findings indicate that it may be possible to improve cognitive function in human DS using similar compounds.

Because DS is caused by an extra copy of chromosome 21, scientists have generally studied the disease through the lens of genetics, focusing primarily on ways in which the superfluous chromosome disrupts normal gene activity. But in the new study, rather than restricting their efforts to genes and chromosomes, the scientists trained their sights on the largely unexplored role of proteostasis a technical term for the cells protein manufacturing and quality control machinery in DS.

Peter Walter, Ph.D., co-senior author of the study, spearheaded the research to uncover a link between proteostasis defects and DS.

The vast majority of the field has been focusing on individual genes on chromosome 21 to figure out which ones are causally related to Down syndrome and its pathologies. Our approach was different. We were trying to uncover a link between proteostasis defects and DS, said Peter Walter, Ph.D., professor of Biochemistry and Biophysics at UCSF and co-senior author of the new study.

Walter spearheaded the new study with collaborator Mauro Costa-Mattioli, Ph.D., a professor of neuroscience at Baylor College of Medicine who is currently a visiting professor in Walters lab thanks to a UCSF Presidential Chair Award.

To identify proteostasis problems that might contribute to DS, the researchers turned to a common mouse model that captures most of the chromosomal, developmental and cognitive abnormalities that define the human version of the syndrome.

Using polysome profiling, a technique that allows scientists to take a detailed snapshot of the cells protein factories in action, the researchers found that up to 39 percent less protein was being produced in the hippocampus of DS mice, prompting them to ask why extra copies of genes could lead to a decline in protein production.

The researchers discovered that hippocampal cells in DS mice had activated whats known as the integrated stress response (ISR), a biological circuit that detects when somethings awry the presence of an extra chromosome, for example, in the case of DS and engages a protective response that activates machinery to tamp down protein production.

The cell is constantly monitoring its own health. When something goes wrong, the cell responds by making less protein, which is usually a sound response to cellular stress. But you need protein synthesis for higher cognitive functions, so when protein synthesis is reduced, you get a pathology of memory formation, said Walter.

Backing up these results, the scientists also found that the ISR was also activated in postmortem samples of brain tissue from people with DS. And by a stroke of pure luck, the researchers were able to obtain a tissue sample from a person with DS in whom some cells carried the expected third copy of chromosome 21, while others were genetically normal the ISR, however, was only active in the cells with the extra chromosome.

Taken together, these findings strongly suggest that the ISR is involved in, and perhaps even responsible for, certain DS symptoms.

Though the ISR can be activated by four different enzymes, the scientists found that only one of them, named PKR, was involved in activating the ISR in hippocampal cells in DS. By blocking the activity of PKR they were able to prevent ISR activation and reverse the declines in protein production that had been observed in the brains of DS mice. But even more impressive, the researchers found that blocking the ISR significantly improved cognitive function in these mice as well.

The researchers used three different approaches to dial down ISR activity deleting the PKR gene, using a drug that suppresses PKR activity, and finally, using a safe, well-studied drug called ISRIB that activates protein-manufacturing machinery that competes directly with the ISRs efforts to shut off protein production. All three approaches yielded a marked improvement in cognition, as demonstrated by two different memory and learning tests.

We started with a situation that looked hopeless, nobody thought anything could be done. But we may have struck gold.Peter Walter, Ph.D.

Importantly, these changes were physiological as well as behavioral. DS mice that were given ISR inhibitors showed improved function at synapses, sites between nerve cells where changes associated with learning take place. In fact, after ISR activity was blocked, the brains of DS mice were transmitting fewer of the inhibitory signals that can make it harder for the brain to learn and form new long-term memories.

Though the results of the study were extremely promising, Walter cautions that much more in this area remains to be studied. Still, the findings are an important first step toward finding therapies that could improve the lives and overall health of people living with DS, a condition that has generally been considered untreatable.

We started with a situation that looked hopeless, Walter said. Nobody thought anything could be done. But we may have struck gold.

Authors: Additional authors include Ping Jun Zhu, Sanjeev Khatiwada, Ya Cui, Lucas C. Reineke, Sean W. Dooling, Jean J. Kim, and Wei Li of the Baylor College of Medicine. Peter Walter is also a Howard Hughes Medical Institute investigator.

Funding: This study was funded by NIH grants R01NS076708, R01HG007538, R01CA193466 and R01 CA228140, Sammons Enterprises and the Howard Hughes Medical Institute.

Disclosures: Peter Walter is an inventor on U.S. Patent 9708247 held by the Regents of the University of California that describes ISRIB and its analogs. Rights to the invention have been licensed by UCSF to Calico LLC. Wei Li is a consultant for the Chosen Med. The authors declare no other competing interests.

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In Down syndrome mouse model, scientists reverse intellectual deficits with drugs - University of California