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The Cognitive Clock Is a New Tool Scientists Use To Measure Brain Longevity – Well+Good

June 7th, 2021 1:56 am

Theres a new tool in town thats supposed to help measure longevity, cognition, and the risk of long-term memory problems. (And no, its not just brain games.) The cognitive clock was developed by researchers at Rush University Medical Center in Chicago to assess brain health based on current cognitive performance in hopes of identifying individuals who might be at risk for Alzheimers and cognitive decline.

Alzheimers disease, which is of the most common cause of dementia, and other diseases of the brain accumulate slowly over time as people get older, said Patricia Boyle, PhD, professor at Rush Medical College and lead author of the study, in an original report by SciTechDaily. Age is widely recognized as the main risk factor for Alzheimers disease, but its a very imperfect predictor, since not everyone develops dementia as they age.

The theory behind the cognitive clock is fairly simple: Brain age might not match actual, chronological age. Brain function typically changes the older we get. But if theres a significant gap in brain age and our chronological age, this might be a red-flag for issues down the line.

Our new cognitive clock provides a measure of brain health that tells us more about how well a persons brain is functioning than chronological age. In this way, the clock can help us detect who is at highest risk of developing cognitive impairment in the coming years, Boyle said.

The teams results were published in the latest edition of The Journal of the Alzheimers Association.Using data from a population of 1,057 participants from previous cognitive impairment-related studies, results from a widely used mental cognition test, and other metrics from neurological evaluations, researchers were able to create a profile of cognitive aging, also known as the cognitive clock. From there, the team explored how core functions, like memory, attention, and language changed over time. Using this cognitive clock, researchers could estimate an individuals cognitive agetheir position on the clockat any given point in time.

We found that, on average, cognition remains stable until a cognitive age of around 80 years of age, then declines moderately until 90, then declines more rapidly until death, Boyle said. Further, we found that cognitive age is a much better predictor than chronological age of dementia, mild cognitive impairment and mortality. It also is more strongly associated with other aspects of brain health.

To test the clocks accuracy, the team applied the methodology to an independent sample of almost 2,600 participants to predict Alzheimers dementia, mild cognitive impairment, and mortality. Once again, they found cognitive age was a better predictor of these results than chronological age.

Essentially, what we did is use cognitive data collected over many years to create a single, easy-to-understand metric that may be used to predict health outcomes with good accuracy, Boyle said.

Fear not if youre worried that your brain might be aging faster than the rest of you. There are some science-backed ways to stay mentally sharp. Yoga can help jog your memory and improve your concentration. As can eating a brain-boosting meal thats loaded with healthy fats and antioxidants. Whatever you do, avoid falling into a mental rut, which can be the downfall of mental cognition. Instead, keep an open mind and cultivate curiosity whenever you can to keep your brain in tip-top shape.

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The Cognitive Clock Is a New Tool Scientists Use To Measure Brain Longevity - Well+Good

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Longevity and Anti-Senescence Therapy Market Study (2021): Industry trends, Evaluation of Market status, Projected growth by 2027 The Manomet Current…

June 7th, 2021 1:56 am

The recent study of the Global Longevity and Anti-Senescence Therapy Market provides the market size information and market trends along with the factors and parameters affecting it in both the short and long term. The report researches into the Longevity and Anti-Senescence Therapy market to evaluate its current and future potential. The report on Longevity and Anti-Senescence Therapy Market also offers the market players along with the new entrants a complete view of the market landscape. This market report is an analytical consideration of the key challenges that may disembark in the market in terms of sales, revenue, export, or import.

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The report is a significant source of information for investors, shareholders, industry planners, established and existing market players who are striving to improve their footprint in the current Longevity and Anti-Senescence Therapy market landscape.

The Global Longevity and Anti-Senescence Therapy market is expected to reach around $800 million by 2026, with a projected CAGR of 13.9% during the forecast period.

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Leading players of Longevity and Anti-Senescence Therapy Market include:

Longevity and Anti-Senescence Therapy Market Competitive Landscape

A sequence of top players along with their detailed growth and business policies can be observed in the inclusive report. Investors, players, and other participants in the global market will be capable to achieve the upper hand if they instigate the report as a powerful resource. The current database has details concerning regional analysis provided to bestow readers with the complete market condition in a glimpse.

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Market Segmentation

By Therapy

By Application

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Based on Region, the global Longevity and Anti-Senescence Therapy market is primarily split into

Every segment of the market offers thorough information on the qualitative and quantitative sections of the market. The segmentation in this research study has been finalized by extensive primary research and in-depth secondary research. It defines, describes, and analyses the market competition landscape, SWOT analysis of Longevity and Anti-Senescence Therapy Market by type, application, and region. The report also provides an in-depth SWOT analysis for all five regions after evaluating economic, political, social and technological factors affecting the Longevity and Anti-Senescence Therapy market.

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Why On-Chain Governance Is Critical for Blockchain Growth and Longevity Op-Ed Bitcoin News – Bitcoin News

June 7th, 2021 1:56 am

The decentralized properties that make blockchain architecture unique can also be its Achilles heel, demonstrating the importance of bringing network governance on-chain to promote a more inclusive and democratized consensus on network upgrades.

There are many bitter arguments over blockchains, whether involving how they should be run, the consensus mechanisms, implementing changes, or upgrading the frameworks. These debates have often put network communities at odds, creating schisms that eventually unfolded in hard forks. Despite the success of these consensus systems as evidenced by rising transactions and valuations, Bitcoin and Ethereums future could be in doubt.

The term consensus has to do with everything enshrined in code for the two largest networks, like transfers of value, how much miners get paid, smart contract operations, and other basic network-coded functionality. Unfortunately, that means that network consensus is not a part of addressing any severe problems or implementing even the tiniest upgrades. This parallel governance process often occurs exclusively off-chain in a highly politicized manner.

For evidence to support this very point, just look at the aftermath of the Ethereum Classic debacle. Or consider the amount of time it has taken Ethereum to update its consensus mechanism from proof-of-work to proof-of-stake. Implementing any network upgrades in this manner is arduous, time-consuming, and not a function of on-chain consensus.

You can think of consensus as a parallel economic system whereby participants worldwide can operate under the same economic framework without any legal oversight or geographical constraints. Still, without any connection between governance and consensus, attempting any major upgrades can theoretically happen without the communitys consent or blessing.

Fortunately, other networks are capably demonstrating that on-chain governance is possible and also effective when adapting to a constantly changing digital environment.

When evaluating the scope of the problem through the lens of Ethereum, its Ethereum Classic hard fork was over a serious disagreement whether code is law or can be broken to protect the community. At present, both networks are compatible thanks to network upgrades mirrored in Ethereum Classic.

However, the disagreement effectively split the community down the middle because Ethereums original structure didnt provide an on-chain governance mechanism to facilitate this dialogue. Solidarity will be the key to longevity for blockchain, and the breakdown of such can cause unnecessary infighting and distractions.

Networks like Tezos and Polkadot have responded to these events with a much more community-oriented approach. The networks communities can vote on proposals and upgrades by employing an on-chain governance model instead of more centralized off-chain governance measures. Besides improving overall participation, it gives every stakeholder skin in the game.

The success of these measures is evident, with Tezos able to upgrade itself just as seamlessly as a computer or phone periodically installs software updates. In the last two years alone, Tezos has undergone multiple major upgrades, each of which has added value to the overall network while developing the infrastructure and setting the stage for future updates.

By comparison, it has taken Bitcoin four hard forks to simply implement minor changes. The more straightforward approach of on-chain governance makes other competing networks like Polkadot much more flexible and adaptive to changes that can unfold, not to mention improving overall blockchain democratization by decentralizing control over a networks future.

If blockchain truly endeavors to challenge the status quo, network governance should reflect that notion by upending the role of gatekeepers and shunning the politics that have divided communities. By combining consensus, governance, and the protocol in one package, these divisive hard fork events can be avoided outright, all while solidifying the outlook and securing the longevity of these systems.

The flexibility of on-chain governance by design means the ability to respond to external technology changes that other, more rigid architectures will find difficult to adopt. Although code may be law in the blockchain universe, its still comprised of a network of humans, and governance should absolutely be a mirror reflection of that reality.

Do you think the Bitcoin and Ethereum chains will follow the example of Tezos and Polkadot to expand on-chain governance? Let us know in the comments section below.

Image Credits: Shutterstock, Pixabay, Wiki Commons, LSE Blogs

Disclaimer: This article is for informational purposes only. It is not a direct offer or solicitation of an offer to buy or sell, or a recommendation or endorsement of any products, services, or companies. Bitcoin.com does not provide investment, tax, legal, or accounting advice. Neither the company nor the author is responsible, directly or indirectly, for any damage or loss caused or alleged to be caused by or in connection with the use of or reliance on any content, goods or services mentioned in this article.

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Why On-Chain Governance Is Critical for Blockchain Growth and Longevity Op-Ed Bitcoin News - Bitcoin News

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The limits of life – The Indian Express

June 7th, 2021 1:56 am

A curious side-effect of sentience is the awareness of death. Medicine, wellness, meditation, philosophy, neural transfers, even literature and the arts a great deal of human endeavour is tasked with either trying to prolong life, or deal with the reality of its end. It turns out that even the best efforts at least those that aim at corporeal immortality and longevity are bound to be futile.

According to a study published in the journal Nature Communications, the human body cannot survive beyond the age of 150 years, eating right and exercising notwithstanding. Researchers used a combination of data from blood tests from over five lakh people as well as mathematical modelling to conclude what we all know already: Everyone is going to die. The body will deteriorate to such an extent that it will not be able to fight disease or recover from even minor injuries. Despite the obviousness of the finding, its implications are serious. Prolonged old age already, human beings are, on average, living longer than ever before means that the burden on the working population is bound to increase, and that retirement will have to wait for many. After all, if youre going to live to 150, its hardly possible to stop earning at 60. And, to make matters worse, there is no guarantee that the quality of life at 150 will really be something worth living for.

The fear of death, and the futility of life, is of particular resonance now the pandemic has made people confront their own mortality on a scale not seen since World War II. In the aftermath of that war, the absurdity of social norms and ambition was articulated by the existentialists. This time, perhaps, the lessons that are drawn will be a little more hopeful: At the end of it all, people may simply give up the race against death and see that theres more in the moment than planning for a future that can be robbed by a microbe.

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The limits of life - The Indian Express

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Apple resolved M1 Mac SSD wear reporting issue in macOS 11.4 – AppleInsider

June 7th, 2021 1:56 am

Previous issues surrounding reporting tools reporting heavy wear on SSDs in Apple Silicon Macs now appear to be fixed in macOS 11.4

Solid State Drives (SSDs) can only be written to so many times before they can become unusable, but it takes many years. A series of reports in February 2021 about the SSDs in M1 Macs, however, appeared to show that their lifespan was considerably reduced.

At the time, an AppleInsider source within Apple, not authorized to speak on behalf the company, told us that it was a data reporting error within the tools used to report SSD wear. According to that source, it was not believed to be an actual hardware issue with the SSD, nor were the SSDs aging notably faster than prior because of RAM swap or other reasons.

Now that same source has told AppleInsider that the issue has been fixed in the latest release of macOS. AppleInsider can also now independently confirm that macOS 11.4 is reporting proper uptime statistics as well, where it was not previously.

Separately, users on Twitter including one of the developers working on the Linux port to Apple Silicon, developer Hector Martin, have now also reported that the issue is resolved.

Follow all the details of WWDC 2021 with the comprehensive AppleInsider coverage of the whole week-long event from June 7 through June 11, including details of all the new launches and updates.

Update: The fix was originally implemented in betas of macOS 11.4. It was made available to the public in the macOS 11.4 release.

Stay on top of all Apple news right from your HomePod. Say, "Hey, Siri, play AppleInsider," and you'll get latest AppleInsider Podcast. Or ask your HomePod mini for "AppleInsider Daily" instead and you'll hear a fast update direct from our news team. And, if you're interested in Apple-centric home automation, say "Hey, Siri, play HomeKit Insider," and you'll be listening to our newest specialized podcast in moments.

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Apple resolved M1 Mac SSD wear reporting issue in macOS 11.4 - AppleInsider

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Cristiano Ronaldo on The Key to His Longevity: "Consistency Takes You to Perfection" – Men’s Health

June 7th, 2021 1:56 am

"It's consistency and hard work with the use of all the ingredients that are available to me, like the Theragun for example, that helps keep my body in the best shape," he explains to us over email. "Its critical to work hard and at the same time to recover well. Not just the day after a match, but during the weeks, the months, and the years later."

"Longevity is the most important thing, and as you can see my longevity is great. I'm 36 years old and I can still compete with the best players and can still maintain the shape I was in when I was 20 years old. It's not easy, but consistency takes you to perfection."

Perfection is exactly right - the five-time Ballon d'Or has scored 22 goals in 27 games, he's reported to have 7% of body fat, an astounding 50% muscle mass, and ultimately a physique that literally is comparable to a 20-year old.

This morning, it was revealed that Ronaldo has partnered with creators of the Theragun, Therabody, with plans to use the platform to amplify the importance of whole-body wellness.

"I remember the first time I used a Thergaun was in 2017. The first feeling I had was cool or different because it's nothing like other things available on the market," he explains. "I use it almost every day. Before each game, I have to use the Theragun. I like to use it on my feet because it makes me feel very relaxed the day before a game."

"My body is the most important thing to me; it's my weapon. Your mind and body control everything, so you have to take care of the best things that you have and I do-- consistently," he adds. "I work hard everyday to take good care of my body and mind."

As part of his own personal focus on whole-body wellness, the renowned Juventus striker eats up to six meals and take five naps in a single "typical" day.

He is known to start his days with ham and cheese and a side of yogurt for breakfast. When he gets hungry a little later in the day, Ronaldo likes to snack on avocado toast.He then typically eats two lunches and two dinners to fuel the rest of his day - the first lunch of chicken and salad followed by fish of some variety accompanied by salad, eggs, and olives. And In the evening, he'll either stick with fish swordfish, tuna, or braised cod or switch to some type of meat.

"In football you have basic points - from training well to eating properly to drinking properly and so on, but recovery for me and from my point of view is the most important thing. If you prioritise recovery after training, you will be much better for the next training session and for the next game. I list recovery as the second or third most important thing to me."

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Cristiano Ronaldo on The Key to His Longevity: "Consistency Takes You to Perfection" - Men's Health

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How to live longer: Waking up an hour earlier may be linked to a longer life – here’s how – Daily Express

June 7th, 2021 1:56 am

Research into longevity invariably lands on the importance of eating well and engaging in regular exercise. Less resources have been devoted to assessing the impact your mental health can have on your overall life expectancy. That is not to say studies haven't been conducted in this area. In an influential Canadian study, depression was associated with an increased risk of premature death.

To further test this hypothesis, and determine the optimal time for rising, lead author Iyas Daghlas, M.D., turned to data from the DNA testing company 23 and Me and the biomedical database UK Biobank.

Daghlas then used a method called "Mendelian randomization" that leverages genetic associations to help decipher cause and effect.

"Our genetics are set at birth so some of the biases that affect other kinds of epidemiological research tend not to affect genetic studies," said Daghlas, who graduated in May from Harvard Medical School.

More than 340 common genetic variants, including variants in the so-called "clock gene" PER2, are known to influence a person's chronotype, and genetics collectively explains 12-42 percent of our sleep timing preference.

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Chronotype is the natural inclination of your body to sleep at a certain time, or what most people understand as being an early bird versus a night owl.

Researchers assessed de-identified genetic data on these variants from up to 850,000 individuals, including data from 85,000 who had worn wearable sleep trackers for seven days and 250,000 who had filled out sleep-preference questionnaires.

This gave them a more granular picture, down to the hour, of how variants in genes influence when we sleep and wake up.

In the largest of these samples, about a third of surveyed subjects self-identified as morning larks, nine percent were night owls and the rest were in the middle.

This suggests that if someone who normally goes to bed at 1am, goes to bed at midnight instead and sleeps the same duration, they could cut their risk by 23 percent; if they go to bed at 11pm, they could cut it by about 40 percent.

It's unclear from the study whether those who are already early risers could benefit from getting up even earlier.

But for those in the intermediate range or evening range, shifting to an earlier bedtime would likely be helpful.

If you're struggling to wake up in the morning, try keeping regular sleeping hours.

"This programmes the brain and internal body clock to get used to a set routine," explains the NHS.

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How to live longer: Waking up an hour earlier may be linked to a longer life - here's how - Daily Express

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150 years old: how the quest for eternal life found its natural limit – The Guardian

June 7th, 2021 1:56 am

Name: 150 years old.

Age: 150 years old.

Appearance: The new threescore and ten.

What does that mean? Threescore and ten, or 70 years, was the old biblical measure of your allotted time on earth. And 150 is the latest measure.

You mean were all going to live to be 150? No. Its just that 150 is as long as anyone is ever going to live.

Who says? A new study published in Nature Communications, which analysed medical data from hundreds of thousands of volunteers, boiling them down to a single measurement of ageing, the dynamic organism state indicator.

What did they learn? Their findings suggest the human bodys progressive loss of physiological resilience the ability to recover from illness and other stress factors reaches a critical point, resulting in a fundamental or absolute limit of human lifespan somewhere about 150 years.

Thats ridiculous. Did this study include any vampires? Not knowingly. Anyway, this is supposed to be good news. 150 is almost double the current UK life expectancy.

I know, but I assumed that by the time I got to 80, they would have extended it to somewhere between 900 and for ever. Dont fret. A startup is developing treatments that could extend limits on lifespan dramatically.

For everyone? No, for dogs. The startup, operating under the brand name Loyal, is embarking on a study of more than 500 dogs, and hopes to have specific anti-ageing treatments for pets within three years.

Whats the current maximum age for a dog? The oldest verified canine was an australian cattle dog called Bluey, who died at the age of 29 in 1939. More recently, there have been unverified reports of dogs living to 30.

And whats that in human years? 210, give or take.

You mean my dog is going to live longer than I am? Well no, because a dog year is equivalent to seven human years, and even thats an unreliable approximation of

This is an outrage! At this rate my dog will have to pay to have me put down. Focus on the positive a study of canine longevity could ultimately be of benefit to us all. Dogs are one of the best models of human ageing, says Loyals founder, Celine Halioua.

In that case, my dog says he would like to volunteer for trials. What a good boy.

Do say: Stay active, maintain a healthy weight, die anyway.

Dont say: Eat more meat, chase more cars.

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150 years old: how the quest for eternal life found its natural limit - The Guardian

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Dr Michael Mosley reveals how standing on one leg every day can have huge health benefits – Express

June 7th, 2021 1:56 am

Sense of balance tends to deteriorate as you get older and this can cause you to lose self-confidence for many reasons. A stooping posture can negatively affect self-esteem, for example. Research also suggests balance can influence your life expectancy.

Dr Michael Mosley cited a study on his BBC podcast Just One Thing with Michael Mosley that found a "clear relationship" between how long people in their 50s could stand on one leg with their eyes closed and whether they would be alive 13 years years later.

The Medical Research Council tracked 5,000 people born in 1946 throughout their lives.

At the age of 53, they completed the tests during home visits from specially trained nurses.

In the standing on one leg with eyes closed test, men and women who were able to hold the position for less than two seconds were three times more likely to die before the age of 66 than those who could hold it for 10 seconds or more.

READ MORE:The best time of the day to shower for your health - doctor issues important advice

Those unable to do the test at all were more likely to die in the following 13 years.

Dr Rachel Cooper at the Medical Research Council said: The majority of these studies are done in older people but we have shown that even in this younger age group, where you would not expect pre-existing disease, we are still seeing these measures are picking up some underlying ageing and disease process.

Drilling down further into the possible explanations for this association, Dr Mosley spoke to Professor Dawn Skelton at Glasgow Caledonian University.

One possible explanation is that people are more prone to falling, incurring serious injuries, Dr Skelton said.

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A more likely explanation is that it could be a symptom of a more serious disruption in the body.

According to Dr Skelton, it could be a sign the brain is not communicating with the rest of the body.

There is also some suggestion that improving your balance can improve your life expectancy and overall health.

"If you can improve your balance, it can make a big difference to the prevention of hip fracture," she said.

What's more, there is some suggestion that improved balance helps cognition and prevents and slows the chance of getting dementia, Dr Skelton said.

Dementia is a syndrome (a group of related symptoms) associated with an ongoing decline of brain functioning.

How do I assess my balance? You should first practice standing on one leg, advised Dr Mosley.

"Standing one leg with your eyes closed can be harder," he noted.

"If you're doing more than 10 seconds you're doing well."

You can also practice balance exercises to improve your balance.

"Do not worry if you have not done much exercise for a while, these balance exercises are gentle and easy to follow," says the NHS.

Try to do these exercises at least twice a week and combine them with the other routines in this series:

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Dr Michael Mosley reveals how standing on one leg every day can have huge health benefits - Express

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MorphoSys and Incyte Announce Three-Year Results from Phase 2 L-MIND Study of Tafasitamab in Combination with Lenalidomide for the Treatment of…

June 7th, 2021 1:53 am

DGAP-News: MorphoSys AG / Key word(s): Miscellaneous04.06.2021 / 19:32 The issuer is solely responsible for the content of this announcement.

Media Release

MorphoSys and Incyte Announce Three-Year Results from Phase 2 L-MIND Study of Tafasitamab in Combination with Lenalidomide for the Treatment of Relapsed or Refractory DLBCL

Presentation will be available on demand as part of the 2021 American Society of Clinical Oncology (ASCO) Annual Meeting

BOSTON, Mass., USA and WILMINGTON, Del., USA - June 4, 2021 - MorphoSys US Inc., a fully owned subsidiary of MorphoSys AG (FSE: MOR; NASDAQ: MOR), and Incyte (NASDAQ:INCY) today announced new three-year follow-up data from the ongoing Phase 2 L-MIND study of tafasitamab (Monjuvi(R)) in combination with lenalidomide in adult patients with relapsed or refractory diffuse large B-cell lymphoma (DLBCL). A total of 80 out of 81 enrolled study patients receiving tafasitamab plus lenalidomide were included in the efficacy analysis at approximately three years follow-up (>=35 months).[1] The long-term analysis, as assessed by an independent review committee (IRC), showed that patients treated with tafasitamab plus lenalidomide had an overall response rate (ORR) of 57.5% (95% CI = 45.9%, 68.5%; 46 out of 80 patients), including a complete response (CR) rate of 40% (32 out of 80 patients). Additionally, the median duration of response (DoR) was 43.9 months (95% CI = 26.1, NR), with a median overall survival (OS) of 33.5 months (95% CI = 18.3, NR) and median progression free survival (PFS) of 11.6 months (95% CI = 6.3, 45.7).

These data (abstract #7513) are available on demand as part of the 2021 American Society of Clinical Oncology (ASCO) Annual Meeting, held virtually June 4-8, 2021, and will be presented as a poster and poster discussion in the Hematologic Malignancies-Lymphoma and Chronic Lymphocytic Leukemia session.

"The three-year efficacy data, combined with the safety and tolerability profile of tafasitamab, further support a therapeutic option for patients with relapsed or refractory DLBCL who are ineligible for transplant - a traditionally difficult-to-treat population," said Gilles Salles, M.D., Ph.D., Lymphoma Service Chief at Memorial Sloan Kettering Cancer Center, and lead investigator of the L-MIND study*. "I am encouraged to see the confirmed favorable outcome of patients in the L-MIND study, which suggest that this combination treatment regimen could potentially offer a paradigm shift and long-term disease control."

The new results - based on an October 30, 2020 data cut-off - build on previous findings showing durable responses and a consistent safety profile of tafasitamab in combination with lenalidomide followed by tafasitamab monotherapy in autologous stem cell transplantation (ASCT)-ineligible patients with relapsed or refractory DLBCL.

"The three-year follow-up data not only show a durable response and consistent safety profile in patients with relapsed or refractory DLBCL treated with tafasitamab plus lenalidomide, it also suggests the combination could potentially lead to durable remission," said Nuwan Kurukulasuriya, Ph.D., Senior Vice President, Global Head of Medical Affairs, MorphoSys. "We are looking forward to sharing these long-term follow-up findings with the scientific community."

"We are pleased that long-term data from the L-MIND study underscore the clinically-significant durable responses that are possible with tafasitamab plus lenalidomide as a treatment for relapsed or refractory DLBCL," said Peter Langmuir, M.D., Group Vice President, Oncology Targeted Therapies, Incyte. "We look forward to continuing to build the body of clinical evidence supporting tafasitamab as a treatment option for patients with DLBCL, as well as exploring other potential indications for tafasitamab through our ongoing research and development program."

In July 2020, the U.S. Food and Drug Administration (FDA) approved Monjuvi(R) (tafasitamab-cxix) in combination with lenalidomide for the treatment of adult patients with relapsed or refractory DLBCL not otherwise specified, including DLBCL arising from low grade lymphoma, and who are not eligible for ASCT. This indication is approved under accelerated approval based on ORR. Continued approval for this indication may be contingent upon verification and description of clinical benefit in a confirmatory trial(s). The U.S. approval is based on an efficacy subgroup of 71 patients confirmed by central lab.

The FDA decision represented the first approval of a second-line treatment for adult patients with DLBCL who progressed during or after first-line therapy.

About Diffuse Large B-cell Lymphoma (DLBCL)DLBCL is the most common type of non-Hodgkin lymphoma in adults worldwide[2], characterized by rapidly growing masses of malignant B-cells in the lymph nodes, spleen, liver, bone marrow or other organs. It is an aggressive disease with about 40% of patients not responding to initial therapy or relapsing thereafter[3], leading to a high medical need for new, effective therapies[4], especially for patients who are not eligible for an autologous stem cell transplant in this setting.

About L-MINDThe L-MIND trial is a single arm, open-label Phase 2 study (NCT02399085) investigating the combination of tafasitamab and lenalidomide in patients with relapsed or refractory diffuse large B-cell lymphoma (DLBCL) who have had at least one, but no more than three prior lines of therapy, including an anti-CD20 targeting therapy (e.g., rituximab), who are not eligible for high-dose chemotherapy or refuse subsequent autologous stem cell transplant. The study's primary endpoint is overall response rate (ORR). Secondary outcome measures include duration of response (DoR), progression-free survival (PFS) and overall survival (OS). In May 2019, the study reached its primary completion.

For more information about L-MIND, visit https://clinicaltrials.gov/ct2/show/NCT02399085.

About TafasitamabTafasitamab is a humanized Fc-modified cytolytic CD19 targeting monoclonal antibody. In 2010, MorphoSys licensed exclusive worldwide rights to develop and commercialize tafasitamab from Xencor, Inc. Tafasitamab incorporates an XmAb(R) engineered Fc domain, which mediates B-cell lysis through apoptosis and immune effector mechanism including antibody-dependent cell-mediated cytotoxicity (ADCC) and antibody-dependent cellular phagocytosis (ADCP).

Monjuvi(R) (tafasitamab-cxix) is approved by the U.S. Food and Drug Administration in combination with lenalidomide for the treatment of adult patients with relapsed or refractory diffuse large B-cell lymphoma (DLBCL) not otherwise specified, including DLBCL arising from low grade lymphoma, and who are not eligible for autologous stem cell transplant (ASCT). This indication is approved under accelerated approval based on overall response rate. Continued approval for this indication may be contingent upon verification and description of clinical benefit in a confirmatory trial(s).

In January 2020, MorphoSys and Incyte entered into a collaboration and licensing agreement to further develop and commercialize tafasitamab globally. Monjuvi(R) is being co-commercialized by Incyte and MorphoSys in the United States. Incyte has exclusive commercialization rights outside the United States.

A marketing authorization application (MAA) seeking the approval of tafasitamab in combination with lenalidomide in the European Union has been validated by the European Medicines Agency (EMA) and is currently under review for the treatment of adult patients with relapsed or refractory DLBCL, including DLBCL arising from low grade lymphoma, who are not candidates for ASCT.

Tafasitamab is being clinically investigated as a therapeutic option in B-cell malignancies in a number of ongoing combination trials.

Monjuvi(R) is a registered trademark of MorphoSys AG.

XmAb(R) is a registered trademark of Xencor, Inc.

Important Safety Information

What are the possible side effects of MONJUVI?

MONJUVI may cause serious side effects, including:

- Infusion reactions. Your healthcare provider will monitor you for infusion reactions during your infusion of MONJUVI. Tell your healthcare provider right away if you get fever, chills, rash, flushing, headache, or shortness of breath during an infusion of MONJUVI.

- Low blood cell counts (platelets, red blood cells, and white blood cells). Low blood cell counts are common with MONJUVI, but can also be serious or severe. Your healthcare provider will monitor your blood counts during treatment with MONJUVI. Tell your healthcare provider right away if you get a fever of 100.4 F (38 C) or above, or any bruising or bleeding.

- Infections. Serious infections, including infections that can cause death, have happened in people during treatments with MONJUVI and after the last dose. Tell your healthcare provider right away if you get a fever of 100.4 F (38 C) or above, or develop any signs and symptoms of an infection.

The most common side effects of MONJUVI include:

- Feeling tired or weak

- Diarrhea

- Cough

- Fever

- Swelling of lower legs or hands

- Respiratory tract infection

- Decreased appetite

These are not all the possible side effects of MONJUVI.

Call your doctor for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.

Before you receive MONJUVI, tell your healthcare provider about all your medical conditions, including if you:

- Have an active infection or have had one recently.

- Are pregnant or plan to become pregnant. MONJUVI may harm your unborn baby. You should not become pregnant during treatment with MONJUVI. Do not receive treatment with MONJUVI in combination with lenalidomide if you are pregnant because lenalidomide can cause birth defects and death of your unborn baby.

- You should use an effective method of birth control (contraception) during treatment and for at least 3 months after your final dose of MONJUVI.

- Tell your healthcare provider right away if you become pregnant or think that you may be pregnant during treatment with MONJUVI.

- Are breastfeeding or plan to breastfeed. It is not known if MONJUVI passes into your breastmilk. Do not breastfeed during treatment for at least 3 months after your last dose of MONJUVI.

You should also read the lenalidomide Medication Guide for important information about pregnancy, contraception, and blood and sperm donation.

Tell your healthcare provider about all the medications you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements.

Please see the full Prescribing Information for Monjuvi, including Patient Information, for additional Important Safety Information.

About MorphoSysMorphoSys (FSE & NASDAQ: MOR) is a commercial-stage biopharmaceutical company dedicated to the discovery, development and commercialization of innovative therapies for people living with cancer and autoimmune diseases. Based on its leading expertise in antibody, protein and peptide technologies, MorphoSys is advancing its own pipeline of new drug candidates and has created antibodies which are developed by partners in different areas of unmet medical need. In 2017, Tremfya(R) (guselkumab) - developed by Janssen Research & Development, LLC and marketed by Janssen Biotech, Inc., for the treatment of plaque psoriasis - became the first drug based on MorphoSys' antibody technology to receive regulatory approval. In July 2020, the U.S. Food and Drug Administration (FDA) granted accelerated approval of the company's proprietary product Monjuvi(R) (tafasitamab-cxix) in combination with lenalidomide in patients with a certain type of lymphoma. Headquartered near Munich, Germany, the MorphoSys group, including the fully owned U.S. subsidiary MorphoSys US Inc., has more than 600 employees. More information at http://www.morphosys.com or http://www.morphosys-us.com.

Monjuvi(R) is a registered trademark of MorphoSys AG.

Tremfya(R) is a registered trademark of Janssen Biotech, Inc.

About Incyte Incyte is a Wilmington, Delaware-based, global biopharmaceutical company focused on finding solutions for serious unmet medical needs through the discovery, development and commercialization of proprietary therapeutics. For additional information on Incyte, please visit Incyte.com and follow @Incyte.

MorphoSys Forward-looking Statements This communication contains certain forward-looking statements concerning the MorphoSys group of companies, including the expectations regarding Monjuvi's ability to treat patients with relapsed or refractory diffuse large B-cell lymphoma, the further clinical development of tafasitamab-cxix, including ongoing confirmatory trials, additional interactions with regulatory authorities and expectations regarding future regulatory filings and possible additional approvals for tafasitamab-cxix as well as the commercial performance of Monjuvi. The words "anticipate," "believe," "estimate," "expect," "intend," "may," "plan," "predict," "project," "would," "could," "potential," "possible," "hope" and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. The forward-looking statements contained herein represent the judgment of MorphoSys as of the date of this release and involve known and unknown risks and uncertainties, which might cause the actual results, financial condition and liquidity, performance or achievements of MorphoSys, or industry results, to be materially different from any historic or future results, financial conditions and liquidity, performance or achievements expressed or implied by such forward-looking statements. In addition, even if MorphoSys' results, performance, financial condition and liquidity, and the development of the industry in which it operates are consistent with such forward-looking statements, they may not be predictive of results or developments in future periods. Among the factors that may result in differences are MorphoSys' expectations regarding risks and uncertainties related to the impact of the COVID-19 pandemic to MorphoSys' business, operations, strategy, goals and anticipated milestones, including its ongoing and planned research activities, ability to conduct ongoing and planned clinical trials, clinical supply of current or future drug candidates, commercial supply of current or future approved products, and launching, marketing and selling current or future approved products, the global collaboration and license agreement for tafasitamab, the further clinical development of tafasitamab, including ongoing confirmatory trials, and MorphoSys' ability to obtain and maintain requisite regulatory approvals and to enroll patients in its planned clinical trials, additional interactions with regulatory authorities and expectations regarding future regulatory filings and possible additional approvals for tafasitamab-cxix as well as the commercial performance of Monjuvi, MorphoSys' reliance on collaborations with third parties, estimating the commercial potential of its development programs and other risks indicated in the risk factors included in MorphoSys' Annual Report on Form 20-F and other filings with the U.S. Securities and Exchange Commission. Given these uncertainties, the reader is advised not to place any undue reliance on such forward-looking statements. These forward-looking statements speak only as of the date of publication of this document. MorphoSys expressly disclaims any obligation to update any such forward-looking statements in this document to reflect any change in its expectations with regard thereto or any change in events, conditions or circumstances on which any such statement is based or that may affect the likelihood that actual results will differ from those set forth in the forward-looking statements, unless specifically required by law or regulation.

Incyte Forward-looking Statements Except for the historical information set forth herein, the matters set forth in this press release, including statements regarding the Company's expectations regarding the use of tafasitamab for treatment of adult patients with relapsed or refractory diffuse large B-cell lymphoma (DLBCL), its ongoing clinical development program for tafasitamab, its L-MIND program, its diffuse large B-cell lymphoma (DLBCL) program generally and its further discussions with regulators regarding tafasitamab as a treatment for patients with DLBCL or for any other indication, contain predictions, estimates and other forward-looking statements.

These forward-looking statements are based on the Company's current expectations and subject to risks and uncertainties that may cause actual results to differ materially, including unanticipated developments in and risks related to: unanticipated delays; further research and development and the results of clinical trials possibly being unsuccessful or insufficient to meet applicable regulatory standards or warrant continued development; the ability to enroll sufficient numbers of subjects in clinical trials and the ability to enroll subjects in accordance with planned schedules; the effects of the COVID-19 pandemic and measures to address the pandemic on the Company's clinical trials, supply chain, and other third-party providers and development and discovery operations; determinations made by the FDA, European Medicines Agency (EMA), or other regulatory authorities; the Company's dependence on its relationships with its collaboration partners; the efficacy or safety of the Company's products and the products of the Company's collaboration partners; the acceptance of the Company's products and the products of the Company's collaboration partners in the marketplace; market competition; sales, marketing, manufacturing and distribution requirements; and other risks detailed from time to time in the Company's reports filed with the Securities and Exchange Commission, including its annual report and its quarterly report on Form 10-Q for the quarter ended March 31, 2021. The Company disclaims any intent or obligation to update these forward-looking statements.

*Dr. Salles has provided speaking and advisory services to MorphoSys and Incyte.

Contacts:

[1] Johannes Duell, M.D., et al. Long-term analyses from L-MIND, a Phase II study of tafasitamab (MOR208) combined with lenalidomide (LEN) in patients with relapsed or refractory diffuse large B-cell lymphoma (R/R DLBCL). 2021 American Society of Clinical Oncology (ASCO) Annual Meeting. Abstract #7513.[2] Sarkozy C, et al. Management of relapsed/refractory DLBCL. Best Practice Research & Clinical Haematology. 2018 31:209-16. doi.org/10.1016/j.beha.2018.07.014.[3] Skrabek P, et al. Emerging therapies for the treatment of relapsed or refractory diffuse large B cell lymphoma. Current Oncology. 2019 26(4): 253-265. doi.org/10.3747/co.26.5421.[4] Skrabek P, et al. Emerging therapies for the treatment of relapsed or refractory diffuse large B cell lymphoma. Current Oncology. 2019 26(4): 253-265. doi.org/10.3747/co.26.5421.

04.06.2021 Dissemination of a Corporate News, transmitted by DGAP - a service of EQS Group AG.The issuer is solely responsible for the content of this announcement.

The DGAP Distribution Services include Regulatory Announcements, Financial/Corporate News and Press Releases. Archive at http://www.dgap.de

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Germline genetic testing can benefit all cancer patients as a routine practice in cancer care – PRNewswire

May 27th, 2021 1:52 am

"Cancer is a disease of genetics, yet clinical practice has struggled to keep pace with rapid advancements in research, particularly with respect to the role of germline genetics. Testing guidelines and medical policy often codify barriers, further lengthening the path to adoption of widespread testing and in some cases restricting access to precision therapies and clinical treatment trials," said Ed Esplin, M.D., Ph.D., FACMG, FACP, clinical geneticist at Invitae. "Research presented at ASCO shows that cancer-linked genetic changes are common across cancer types and when patients do receive germline testing, over two thirds of those with positive results are eligible for changes to their treatment plans. It's clear that incorporating germline testing alongside tumor profiling can help oncologists better tailor treatment for each patient."

Data from 250 pancreatic cancer patients from the landmark INTERCEPT study conducted at the Mayo Clinic found that nearly one in six patients with pancreatic cancer (n=38) showed cancer-linked genetic changes and, importantly, receiving germline testing was associated with improved survival.

A separate study of prostate cancer patients confirmed similar findings in other cancer types that limiting testing deprives patients and clinicians of actionable information. In the first-ever presentation of the PROCLAIM study, which was conducted primarily in community urology clinics, of patients diagnosed with prostate cancer, a significant number of cancer-linked variants were missed if testing was done based on NCCN guidelines. Of the 532 patients with clinician-reported data, nearly half, 45% (n=239), did not meet NCCN criteria. Overall, 59 patients had a cancer-linked variant; one in 10 of them did not meet the criteria (9.6%, n=23), and 12.3% (n=36) of patients met the criteria. When a 12-gene panel was used, only 29 patients were found to have a cancer-linked variant and one third of these patients were missed by guidelines.

A third study showed simply changing medical policy is not enough to drive changes in clinician adoption. In a review of two independent datasets, including commercially insured and Medicare Advantage enrollees, only 3% (n=1,675) of the 55,595 colorectal cancer patients received germline genetic testing, despite medical policy recommending germline genetic testing for all colorectal cancer patients (consistent with the INTERCEPT colorectal cancer study). Of the patients who received testing, 18% (n=143) had a cancer-linked variant and two thirds, or 67% (n=96), of those patients were potentially eligible for precision therapy and/or clinical trials.

"The data have been available for years that show knowing what changes patients have in their genes is beneficial to treating their cancer. Yet the oncology community has been slower to adopt germline testing than tumor profiling, for reasons that are not entirely clear. These data presented at ASCO highlight the need for oncologists to embrace germline genetic testing as routine practice for all cancer patients," said Robert Nussbaum, M.D., chief medical officer at Invitae. "A positive germline genetic result may enable patients to enroll in clinical trials or gain access to new precision medicines. And equally important, the discovery of an inherited variant can alert relatives to seek out earlier cancer screening, helping avoid later-stage diagnoses and offering a treatment benefit if cancer develops."

Invitae aims to help overcome obstacles to the adoption of genetic testing by providing physicians with clinical consults to help interpret results and reducing cost as a barrier to genetic information. Invitae also provides patients direct access to genetic counselors, helping to integrate routine genetic testing into patient care with GIA, a HIPAA-compliant chatbot. Family members are also able to receive no-charge genetic testing if a positive result is found.

Details of the 2021 ASCO presentations:

Oral Abstract Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Discussion Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Session: Gastrointestinal Cancer--GastroesophageaI, Pancreatic, and Hepatobiliary

About InvitaeInvitae Corporation(NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the benefits of germline testing and genetic information; and that the data presented at ASCO highlight the need for increased germline testing in all cancer patients regardless of medical policy. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended March 31, 2021. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelo[emailprotected](628) 213-3283

SOURCE Invitae Corporation

http://www.invitae.com

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Increasing genetic diversity in crops is important – Farm Progress

May 27th, 2021 1:52 am

The loss of diversity in fields and gardens has real consequences, according to Tommy Carter, USDA professor, soybean breeding and genetics emeritus faculty, North Carolina State University. Carter explains the importance of increasing genetic diversity in crops in this Sustainable, Secure Food blog.

Modern crop varieties are often too uniform genetically speaking for good agricultural health, Carter writes. Thats because many new varieties are too closely related like cousins or siblings. This uniformity makes them less useful as breeding stock in current breeding efforts because they have lost useful genes which are still present in the landraces.

Soybean provides a good example regarding the insufficient diversity in modern varieties. Farmers domesticated soybean perhaps five thousand years ago in central China. These seeds spread through most of Asia via caravans with population migration. Adapting soybean to local conditions as soybean spread slowly over Asia, ancient farmers selected out more than 10,000 diverse varieties from domestication to the present. Many of these are now preserved by USDA and China in seed banks.

Although the thousands of old Asian soybean landraces are genetically diverse, modern U.S varieties are not. In the process of developing modern soybean varieties for U.S. farmers, the first generations of U.S. soybean breeders (~1930-1990) essentially ignored genetic diversity. They instead focused on adapting soybean for mechanical farming. Hundreds of new varieties were released to U.S. farmers in a successful endeavor to improve productivity, but these varieties were not very diverse, genetically speaking.

Today, U.S. soybean breeding programs are widely recognized as limited by insufficient genetic diversity. Breeding progress slowed, and the reasons are twofold:

Two landmark soybean USDA cultivars, Lee and Forrest, in the southern U.S. offer prime examples of this problem. They were released in the 1950s and 1970s. Their superior agronomics and popularity on the farm led to their heavy use as parental stocks for breeding during the following decades.

The result was a new generation of progeny (soybean children) that were highly related not only to the landmark varieties Lee and Forrest, but to each other as well. Although they performed well in the field, these brother and sister soybeans were not good mating stock for producing new varieties. The term inbreeding is often used to describe this effect in animal breeding, and the term applies here as well.

Short-term gains made in developing Lee and Forrest, thus, came at the expense of long-term progress. Diversity, the basis for new progress, was lost. But a new plan from the USDA-ARS, known as the 301 Plan, has the goal to restore diversity to applied breeding programs. Science in the 301 Plan results in new, unique breeding lines which have diverse pedigrees and genetics.

A new release of soybean USDA-N6004 is part of that effort. When new varieties of plants are certified by the USDA, they receive an official registration number. Some breeders then choose to name their variety with a more common name, such as Lee and Forrest soybean mentioned. Breeders created USDA-N6004 soybean by hybridizing of USDA cultivar NC-Roy and Japanese cultivar Blue Side. Blue Side is a vegetable (edamame) soybean that comes from outside the U.S.s genetic base. Japanese germplasm generally is not well represented as parental stock in U.S. breeding. Thus, Japan appears to be a rich untapped source of diverse genes for future U.S. soybean breeding.

Source: Sustainable, Secure Food blog written by members of the American Society of Agronomy and Crop Science Society of America, which is solely responsible for the information provided and is wholly owned by the source. Informa Business Media and all its subsidiaries are not responsible for any of the content contained in this information asset.

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Atlas of Cocaines Effects on Gene Expression Mapped at Single-Cell Level in Fruit Fly Brain – Genetic Engineering & Biotechnology News

May 27th, 2021 1:52 am

Scientists at the Clemson University Center for Human Genetics used single cell transcriptomics technology to identify how acute cocaine exposure affects specific cell clusters in the brain of the common fruit fly, Drosophila melanogaster. The studies, headed by geneticists Trudy Mackay, PhD, and Robert Anholt, PhD, found that cocaine use by the fruit flies elicited rapid, widespread changes in gene expression throughout the brain, and that the differences were more pronounced in males than in females. The investigators hope that the resulting atlas of sexually dimorphic cocaine-modulated gene expression could potentially lay the groundwork for developing drugs that would treat or prevent cocaine addiction in humans.

This research identifies the regions of the brain which are important, said Mackay, the Self Family Endowed Chair in Human Genetics. Now, we can see what genes are expressed when exposed to cocaine and whether there are Federal Drug Administration-approved drugs that could be tested, perhaps first in the fly model. Weve already spotted several of these genes. This is a baseline. We can now leverage this work to understand potential therapy.

Mackay, Anholt and colleagues report on their findings in Genome Research, in a paper titled, The Drosophila brain on cocaine at single cell resolution.

The propensity for cocaine use depends on both genetic and environmental factors, making it hard to study. And while the neurological effects of the drug are well known, scientists know much less about how gene variation may impact on sensitivity to the drugs effects. Furthermore, little is known about acute effects of cocaine consumption on genome-wide gene expression across the brain, they continued.

The fruit fly Drosophila melanogaster is a useful model for systems genetic analysis of cocaine consumption. The majority of the fruit fly genes have human counterparts, providing researchers with a comparable model when studying complex genetic traits. Flies can be reared rapidly in large numbers at low cost in defined genetic backgrounds and under controlled environmental conditions, and about 75% of disease-causing genes in humans have fly orthologs, the team pointed out.

Fruit flies exposed to cocaine showed impaired locomotor activity and increased seizures and, as the authors explained, exposure to cocaine also elicits motor responses in the fruit fly that resemble behaviors observed in rodents. flies in addition develop sensitization to repeated intermittent exposure to cocaine.

For their reported studies, the investigators allowed male and female flies to ingest a fixed amount of sucrose or sucrose supplemented with cocaine, over no more than two hours. Observation of the flies behavior after cocaine ingestion showed evidence that the drug exposure resulted in physiological and behavioral effects, including seizures and compulsive grooming.

To assess the effects of cocaine consumption on gene expression in the brain, the researchers dissected the fly brains into single cells. Using next-generation RNA sequencing technology they were able to make libraries of the expressed genes for individual cells.

To identify specific cell populations that respond to acute cocaine exposure, we analyzed single cell transcriptional responses in duplicate samples of flies that consumed fixed amounts of sucrose or sucrose supplemented with cocaine, in both sexes, the scientists explained. The single-cell technique is ultra-powerful and offers advantages over standard gene expression profile studies. If an entire brain is used and theres heterogeneity of gene expression, such that its up in one cell and down in another, you dont see any signal, Mackay commented. But with the single cell analysis, were able to capture those very, very fine details that reflect heterogeneity in gene expression among different cell types. It is very exciting to apply this advanced technology here at the CHG.

The investigators looked at 88,991 cells, with each cell having thousands of transcripts. Through sophisticated statistical analysis, the researchers were able to categorize the cells into 36 distinct cell clusters. Annotation of clusters based on their gene markers revealed that all major cell typesneuronal and glialas well as neurotransmitter types from most brain regions, including mushroom bodies, were represented. The study results showed that all types of fly brain cells were affected, especially Kenyon cells in the fly brains mushroom bodies, and some glia cells. Mushroom bodies, which get their name because they look like a pair of mushrooms, are integrative brain centers that are associated with experience-dependent behavioral modifications.

Interestingly, the study highlighted extensive sexual dimorphism in the response to cocaine. We found the effects of cocaine in the brain are very widespread, and there are distinct differences between males and females, added Anholt, Provosts Distinguished Professor of Genetics and Biochemistry. The investigators further stated, although cocaine-modulated changes in gene expression are widespread throughout the brain in both sexes, specific changes in transcript abundances are distinct between males and females We identified 691 differentially expressed genes in males and 322 in females following acute exposure to cocaine, of which ~69% have human orthologs. The scientists say the observed sexual dimorphism is in line with previous studies that showed reduced locomotion and increased grooming in flies given low doses of cocaine, with males showing more profound effects than femails.

The collective results of the teams analyses were used to generate what they say is an atlas of sexually dimorphic cocaine-modulated gene expression in a model brain. Ahnolt said its hoped that the atlas will serve as a resource for the research community.

functional parallels between the fly model and human studies provide proof of principle that results from cocaine exposure obtained from the fly model can be translated to human populations, the investigators stated. Thus, the comprehensive documentation of cocaine mediated modulation of gene expression which we have derived can serve as a contextual framework for future human studies.

Mackay is one of the worlds leading authorities on the genetics of complex traits. She has a longstanding interest in behavioral genetics and developing the fruit fly as a model for understanding the genetic basis of complex behaviors. Her laboratory developed the Drosophila melanogaster Genetic Reference Panel (DGRP), which now consists of 1,000 inbred fly lines with fully sequenced genomes derived from a natural population. The DGRP allows researchers to use naturally occurring variation to examine genetic variants that contribute to susceptibility to various stressors.

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Genetic breakthrough could save farmed salmon from flavobacteriosis – The Fish Site

May 27th, 2021 1:52 am

The consortium has been exploring the genetics that determine whether fish are resistant to Flavobacterium psychrophilum a bacterium which can lead to health issues in salmon fry.

The discovery is expected to pave the way for selective breeding programmes, which could boost the health and welfare of farmed Scottish salmon by breeding new fish from parents that possess the genetic resistance markers and are, therefore, expected to display increased resistance to the bacteria.

Flavobacteriosis can be a particular threat to smaller, juvenile fish and is a widespread challenge for the aquaculture sector, with infections also reported in Chile, Norway and Canada. However, current prevention and treatment programmes are limited vaccination by injection cannot be used due to the size of the fish and, as the sector continues to move away from antibiotic treatments, a genetic breakthrough could hold the key.

The project is backed by the Sustainable Aquaculture Innovation Centre (SAIC) and led by AquaGen Scotland, with partners from the University of Stirlings Institute of Aquaculture, DawnFresh Farming and Cooke Aquaculture Scotland.

The Health and Welfare of Atlantic Salmon course

It is vital that fish farm operatives who are responsible for farmed fish are trained in their health andwelfare. This will help to ensure that fish are free from disease and suffering whilst at the same timepromote good productivity and comply with legislation.

Andrew Reeve, managing director of AquaGen, said: Continual improvements in fish health and welfare are priorities for the aquaculture industry, to which robust stock suited to the farmed environment make an important contribution. Genetic markers for disease resistance, such as those discovered through this SAIC-funded project, are valuable tools that can and will be immediately employed in breeding work.

To identify the two genetic markers, more than 4,000 fish from AquaGen were tested for more than 70,000 genetic markers using a specially designed lab-based model, which mimics the natural infection route. The next stage of the research programme is to conduct field trials at one of Cooke Aquacultures sites, using salmon eggs specifically selected by AquaGen. It is hoped that, in the event of a natural outbreak of the bacterial disease being detected, these fish can be tested to validate the effect of the genetic markers.

Heather Jones, CEO of SAIC, said: The interim results of this R&D project are highly encouraging and point towards a new, sustainable approach to tackling a common health issue reported in young salmon. One of the most valuable outputs of collaborative innovation projects is the wealth of knowledge that can be shared across the entire sector and findings like this have the power to make a big difference to fish health and welfare.

Dr Rowena Hoare, research fellow at the Institute of Aquaculture, added: Flavobacteriosis is known to be problematic for salmonid culture in freshwater globally for decades. This project has shown how fruitful it can be to combine the expertise of academic and industry researchers to address a complex and economically important disease.

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What genetic analysis reveals about the ancestry of South Africa’s Afrikaners – The Conversation CA

May 27th, 2021 1:52 am

The story of human history is one of migrations over the globe and admixture the exchange of DNA between populations.

Two of the most dramatic of these migrations were slavery and European colonisation. The subsequent admixture between slaves, Europeans and indigenous populations led to the formation of new populations. One, at the southern tip of Africa, was a group that became known as Afrikaners.

Afrikaners predominantly stem from Dutch, French and German immigrants who settled in the Cape, in South Africa, during the second half of the 17th century and the first half of the 18th. Although later European immigrants were also absorbed into the population, their genetic contribution was comparatively small. Another small but significant genetic contribution came from slaves and the local, indigenous Khoekhoe and San populations. These groups were, respectively, pastoralists and hunter-gatherers and in this article we refer to them as the Khoe-San.

Ironically, despite Afrikaners admixed roots, they rose to notoriety for their draconian laws that aimed to segregate groups of people apartheid to allow discrimination against those not of European descent.

The colonisers required labourers and turned to slavery. In fact, there were more slaves than colonists at the Cape during the century preceding the abolition of the slave trade in 1807. The first 400 of these slaves arrived from West Africa in 1658. An estimated 63,000 slaves followed during the next 149 years. During the 17th and 18th centuries, most slaves came from South Asia. Slaves forcefully relocated to the Cape at the end of the 18th century predominantly came from East Africa.

People are, naturally, fascinated by their history. However, it is often poorly documented, recorded with bias, or not recorded at all. Given the central role that ethnicity played and still plays in South African politics, it would be good to have an unbiased estimate of Afrikaners genetic history. We set out to learn more about admixture in the formation of Afrikaners by looking at the genetic variation in their genomes.

Our research had six main findings. First, it confirmed the timing of admixture in the Cape. Second, it showed limited genetic contribution from southern Bantu-speakers, African farmers that colonised southern Africa from the north from about 500 AD onwards. It also confirmed the relative popularity of Indian women as wives among early colonists. It showed an unexpectedly frequent genetic contribution from the indigenous Khoekhoe and San populations and a greater West than East African genetic contribution in Afrikaners. Finally, there was a surprising lack of inbreeding.

Admixture during the formation of the Afrikaner population is recorded in genealogical sources. But these genealogies dont tell the full story, for several reasons.

Firstly, in the 17th and early 18th centuries some women used the toponym van de Kaap (meaning born at the Cape), irrespective of whether their parents were immigrants from Europe or slaves. Second, it has been suggested, but not recorded, that European farmers at the Cape had children with Khoe-San women.

Third, many of the children born in the Dutch East India Companys slave lodge had unknown European fathers. The slave lodge served as a brothel for passing sailors and other European men.

Several potentially important genetic source groups a substantial Muslim community, a small Chinese community and the local Khoe-San were not recorded because they were not Christian. And admixed couples would have been secretive about their relationships because marriages between slaves and Europeans were outlawed from 1685.

By comparing the Afrikaners in our study to 1,670 individuals from 32 populations across the world we found that 4.7% of Afrikaner DNA has a non-European origin. That may seem like a small percentage, but 98.7% of the Afrikaners were admixed.

Children whose parents are from different populations have one set of chromosomes from each population. With each generation the pairs of chromosomes one from each parent are snipped and pasted with one another; a process known as recombination. Repeated recombination results in shorter and shorter segments of DNA from the original populations.

By studying this effect, the age of the admixture was estimated to around 1681. Its around this time that colonisers began to settle at the Cape. In 1657, for instance, 142 employees of the Dutch East India Company were released from their employ to settle; 156 French Huguenots settled in 1688, and from 1675 yearly slave imports often exceeded 100 individuals. Therefore, this estimate aligns fairly well with genealogical and historical records of early colonial times at the Cape of Good Hope.

The admixture between European and Khoe-San was more common than church records suggest. In our study, though only 1.3% of Afrikaner genes came from the Khoe-San, most Afrikaners contained some Khoe-San genes.

The highest non-European contribution (1.7%) came from South Asia, or India. This reflects colonial mens stated preference for marrying freed Indian slaves during the founding years. A little less than 1% of Afrikaner genes have an East Asian (Chinese or Japanese) origin.

The contribution of West and East Africa is the lowest, at 0.8%. This is likely to stem from the almost 18,000 slaves imported from Africas west and east coasts. The fraction of genes from West Africa is slightly higher than from East Africa, reflecting the fact that while West African slaves were few, they arrived four generations before slaves from East Africa.

A common perception about Afrikaners is that they stem from very few ancestors, which would have resulted in inbreeding. Inbreeding results in long stretches of the paternal and maternal chromosomes being identical to each other. By looking at the lengths of identical stretches, it is clear that Afrikaners are as variable as the average European. This is in part due to admixture between non-Europeans and Europeans, but also because Europeans came from all over Europe.

The strongest European genetic contribution is from northwestern Europe, with the most similar population being the Swiss German population. This signal could also be interpreted as a mixture between German, Dutch and French populations as genealogical records indicate.

In conclusion, despite laws prohibiting mixed marriages from as early as 1658, and discrimination that culminated in the apartheid system, these genetic analyses confirm that most Afrikaners have admixed ancestry. Genealogical information has indicated as much, but these genetic findings are irrefutable.

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What genetic analysis reveals about the ancestry of South Africa's Afrikaners - The Conversation CA

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People with rare diseases being left behind by Irish health system – The Irish Times

May 27th, 2021 1:52 am

People with rare diseases are being left behind by the Irish healthcare system, an Oireachtas committee has heard.

The joint committee on health met on Wednesday to discuss improving the lives of those affected by rare diseases and their families.

The committee heard that people with rare conditions struggle to access genetic testing and Irish patients have less access to new drugs compared to other European citizens.

Witnesses at the committee also said the health system needs to train more genetic consultants as a matter of urgency due to severe staff shortages.

A rare disease is a condition that affects less than one person in every 2,000.

According to Rare Diseases Ireland, there are roughly 300,000 people living with rare conditions in Ireland.

Vicky McGrath, CEO of Rare Diseases Ireland, said that diagnosis for people with a rare condition is often delayed for many years. Would we accept delayed diagnosis and treatment in other specialities? We all know what a delayed diagnosis for cancer patients means, yet it is accepted as normal for a rare diagnosis to take several years, she said.

Ms McGrath added 72 per cent of rare conditions are genetic in origin, but genetic testing, genetic consultation and genetic counselling is difficult to access in Ireland.

The Clinical Genetics service in Childrens Health Ireland (CHI) at Crumlin provides a diagnostic, counselling and clinical genetic testing service for children and adults affected by or at risk of a genetic condition. This service is the sole provider to the population of Ireland.

Ms McGrath said the HSEs Review of the Clinical Genetics Medical Workforce in 2019 revealed the extent of the issue.

There are currently just three genetic consultants in position in CHI at Crumlin. The HSEs 2019 Review indicates that there should be 15. The most visible knock-on effect is growing waiting lists.

As of March 2021, there were 3,999 people on the waiting lists for clinical (medical) genetics, up from 3,052 just one year earlier; 1,392 of these are children under the age of 16.

Typically, the priority waiting list is between 15 and 18 months and routine referrals wait over two years to be seen. As of March, there were 941 people on the waiting list for over 18 months, and 657 of these were under the age of 16, said Ms McGrath.

Access to drugs is another issue. There was a report published yesterday [on Tuesday] around access to medicines. Of the 47 orphan medicines that were approved by the European Medicines Agency between 2016-2019, eight of them were available in Ireland for reimbursement.

Ninety-six per cent of them are available in Germany, 85 per cent in Denmark, 72 per cent in England; Scotland, a similar country to our own, has 47 per cent of them available. Our system is hindering access... we are being left behind.

Dr Sally Ann Lynch, consultant clinical geneticist from CHI said that in Ireland, the training programme for genetic consultants was delayed for a decade.

I set up the training scheme in the Republic, but it was blocked by the Medical Practitioners Act for about seven years, we werent allowed to set up any new training schemes. Its also very difficult to recruit from abroad... Ive been trying to get a locum and will keep trying until the day I die.

The situation in Northern Ireland is far better than in the south, according to Dr Lynch. They currently have six geneticists, who were all trained in the North. They set up a training scheme, and really supported it.

However, Ms McGrath said because the North has more services, there could be an opportunity for cross-border co-operation, to reduce waiting lists.

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People with rare diseases being left behind by Irish health system - The Irish Times

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Discovery of a new genetic cause of hearing loss illuminates how inner ear works – National Science Foundation

May 27th, 2021 1:52 am

Study shows link between mutations of GAS2 gene and ability to amplify incoming sound

Scientists have found a link between genetic mutations and hearing. Pictured: Cochlea in a mouse.

May 26, 2021

A gene called GAS2 plays a key role in normal hearing, and its absence causes severe hearing loss, according to a study led by researchers in the Perelman School of Medicine at the University of Pennsylvania.

The U.S. National Science Foundation-funded scientists discovered that the protein encoded by GAS2 is crucial for maintaining the structural stiffness of support cells in the inner ear that normally help amplify incoming sound waves. Their findings, published in Developmental Cell, showed that inner ear support cells lacking functional GAS2 lose their amplifier abilities, causing severe hearing impairment in mice. The researchers also identified people who have both GAS2 mutations and severe hearing loss.

"Anatomists 150 years ago took pains to draw these support cells with the details of their unique internal structures, but it's only now, with this discovery about GAS2, that we understand the importance of those structures for normal hearing," said study senior author Douglas Epstein, a geneticist at Penn Medicine.

Two to three of every 1,000 children in the United States are born with hearing loss in one or both ears. About half these cases are genetic. Although hearing aids and cochlear implants often can help, these devices seldom restore hearing to normal.

One of the main focuses of the Epstein laboratory is the study of genes that control the development and function of the inner ear -- genes that are often implicated in congenital hearing loss. The inner ear contains a complex, snail-shaped structure, the cochlea, that amplifies the vibrations from sound waves, transduces them into nerve signals, and sends those signals toward the auditory cortex of the brain.

A few years ago, Epstein's team discovered that Gas2, the mouse version of human GAS2, is switched on in embryos by another gene known to be critical for inner ear development. To determine Gas2's role in that development, the team developed a line of mice in which the gene had been knocked out of the genome.

The prevalence of hearing loss in people due to GAS2 mutations remains to be determined, but Epstein noted that this type of congenital hearing loss is an attractive target for future gene therapy.

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Discovery of a new genetic cause of hearing loss illuminates how inner ear works - National Science Foundation

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‘Genelection’: Should We Select Children Based on Their Genetic Scores? – American Council on Science and Health

May 27th, 2021 1:52 am

GWAS and Polygenic Risk Scores (PGS)

Genome-Wide Associations Studies (GWAS) employ statistical means of describing the genome. They can be used to calculate polygenic risk scores or polygenic scores (they go by both names), which can tell you how your genetic constitution compares to others. It also can predict traits, including the risk of diseases caused by multiple genetic combinations. (Heres more on GWAS and PGS).

But while your PGS can tell you that you may be at a higherriskof, say, coronary heart disease it wont tell youwhenyou might get sick or evenifyou will get sick at all. The most your PGS can tell you is yoursusceptibilityto disease. Nor does PGS factor in contributory causes like environmental insults or lifestyle, diet, or stress, which also influence disease onset.

Choice over Chance

PGS can tell you whats bad about your genome but it can also tell you whats good about it. For reproductive entrepreneurs, this translated into using these scores to select the best embryo for implantation following In Vitro Fertilization (IVF). At least one Americancompanyadvertises the technology to choose the healthiest embryo amongst the litter of recovered fertilized eggs.

It doesnt take much imagination to conjure the creation of a PGS for intelligence(some reports say it already exists and is available for the wealthy[1, 2])or aesthetics, using an algorithm for height, body-mass index, eye and hair color, skin tone, facial symmetry and Fibonacciproportionalityof features, or athleticism, including genetic markers for endurance, muscle mass, and strength. These scores would allow prospective parents to choose the embryo genetically destined to be the best looking, smartest,healthiest, or most athletic of their offspring that is, if you dont place much importance on environmental and personality factors, such as drive, discipline, resilience, and motivation. (Although at least one evolutionary geneticistclaimsthat even these factors are also genetically influenced [3])

Legally, in the United States, there is no problem using PGS to select the best embryo. Medically, it entails no additional risk to the embryo - IVF embryos are routinely screened for genetic markers that compromise gestation, anyway. So, the question remains: should this be done?

Bioethics and Beneficence

At least two noted bioethicist-scholars advocate in favor of genetic selectivity of embryos- based on an idiosyncratic reading of beneficence (the obligation of an individual to act for the benefit of another), one of the four bioethical principles offered by Beauchamp andChildress.

Julien Savulescuclaims it is a moralobligationfor prospective parents to choose the best child, meaning the most advantaged child, or at least the one with the greatest chance of having the best life, under the theory of procreative beneficence. Considerations of the future implications of such use amply depicted in fiction scenarios are ignored.For Savulescu, the concept ofwhochooses what constitutes best is unimportant. As to whether parents may be swayed by fashion, superstition, and outrageous conception of the good life, he (wrongly) claims there are legal constraints that aim to prevent the most egregious parenting choices.

Professor John Robertson holds a similar opinion invoking procreative liberty, which allows using an IVF procedure even if it increased the childs risks of injury. To Robertson, children born with these afflictions would not be harmed because the alternative future for them would be non-existence, [2] a belief that I do not share and havewrittenat length.

The Rights of the Child (Autonomy)

Autonomy, another ethical principle proffered by Beauchamp and Childress, is the right of self-determination.Those disagreeing with using PGS to select the best embryo claim the child has a right to an open future, and a parent who chooses the embryo scoring highest on one matrix might be directing the child in a direction adverse to what the child might have chosen herself.

Indeed, while parents typically chose a partner that facilitates a reproductive likelihood in a particular direction good parents dont push their offspring down a particular path (lest they spend years and big bucks on a shrinks couch undoing this primordial programming). To allow parents to choose their childs precise genetic destiny from the moment of conception trespasses on the childs right to choose what life she or he would like.

Social Justice to treat everyone equally and equitably

The third Beauchamp and Childress principle is justice, encompassing social justice. Here, the potential for societal danger conjured by the technology seems to have been ignored entirely by proponents of using PGS for embryo selection. Until these technologies can be made available to everyone, they will be the province of the rich whose children often begin life healthier by virtue of better environments, which is also said to boost intelligence scores (NB this isnotto be confused with intelligence).With plastic surgery, they are prettier. With drugs, their athletic performance is enhanced. The disparities of health outcomes from socio-economic determinants are well-studied, and the availability of this technology to the rich, when not available to all will only further expand the divide.

But even if the technology were available to all lets say to enhance intelligence, it wouldnt make one child any smarter compared to the next if she werent already destined to be.

If everyone might be genetically enhanced allwho are now smarterwould still be smarter genetically,their environments would still differ leading to the same state of affairs at least relatively speaking [4]

Non-Maleficence IVF can be dangerous

The final Beauchamp and Children ethical principle is non-maleficence do no harm. One might question using PGS at all, as it requires submitting to IVF. While IVF is a godsend to address infertility (and perhaps to select for children with certain immunological profiles to enable stem cell transplantation for sick siblings, as Ive previouslywritten), some suggest that IVF should not be routinely countenanced where infertility is not an issue as the procedure entails rare risks of its own both to mother and child-to-be, being responsible for a slight increase in birth defects among other problems(4).

Truth in Advertising and Biological Validity

Most of those in the know recognize that PGS are predictive only for populations.

We can certainly use genetics to look at statistical effects across populations, but this will give at best very fuzzy predictors for individuals.

Dr. Kevin Mitchell, geneticist [1]

Perhaps when there is only one prize being contested for, say, health, it might make sense to allow parents to choose the embryo with the probability of being healthiest (defined according to todays technology). But when we include the choice between various packages all involving probability functions no definite outcome can be predicted. How could one reasonably choose between an embryo with a 90% chance of being healthy or one with a 60% chance of being more intelligent than her siblings?

Perhaps more egregious is the failure to recognize the impact of pleiotropism, meaning that one gene has multiple effects. This consideration is important both in CRISPR gene-editing and PGS determinations.

Pleiotropisms come in two varieties, vertical and horizontal. In the first, the genetic variant under question affects one trait, say cholesterol, which in turn affects others, like the risk of heart disease. Of more concern are the horizontal variants, where one gene has multiple non-related effects. So, say you want to create a child with the least risk of mental health issues including a minimal risk of schizophrenia. Genes associated with reducedschizophreniarisk are also associated with both low and high body mass meaning if you choose against schizophrenia, you might also be selecting fora child likely to be obese. Since we arent conversant yet with the extent of genetic pleiotropisms, the unanticipated consequences of using PGS strongly cautions against its use at present.

Morality and Humanity

The magic promised by these technologies seems to have fairy-dusted the eyes of even the most intelligent.This raises the phantasm of PGS or gene-editing to cure or eliminate diseases, like schizophrenia, Lou Gehrigs disease, dyslexia, or dwarfism. How wonderful, we think, to eliminate these diseases from the face of the Earth. Perhaps not.

Had we given the parents of embryos containing markers for these diseases the chance to avoid birthing children with them, society would have been deprived of the contributions of John Nash (the Nobel prize winner in Mathematics), theoretical physicist Stephen Hawking, Carol Greider, the Nobel Laureate who discovered telomerase, and Professor Charles Steinmetz, the electrical engineering genius who boosted our capacities in electrical power systems, just to name a few who suffered from these conditions. And people who dont achieve high scores on any PGS rubric, like my friends dear daughter, would be denied existence if these scores were in common use - prevented from enriching and brightening our lives with their smiles, kindness, and their good cheer.

[1] Hannah Crichtlow,The Science of Fate,Hodder Press

[2] O. Carter Snead,What It Means to be Human, Harvard University Press

[3] Robert Plomin, Blue PrintHow DNA Makes Us Who We AreMIT Press (2018

[4]Genetically-Engineered Begots, Have-Nots, and Tinkered Tots: (High Scoring PolyGenic Kids as a Heredity-Camelot) - An Introduction to the Legalities and Bio-Ethicsof Advanced IVF and Genetic EditingSSRN.com3851431, Chicago-Kent Law Review (forthcoming) 2021

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'Genelection': Should We Select Children Based on Their Genetic Scores? - American Council on Science and Health

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Genes from algae helped a blind man recover some of his vision – Livescience.com

May 27th, 2021 1:51 am

A blind man who could only perceive the faintest bit of light can now perceive fuzzy shapes, thanks to gene therapy and a pair of specially engineered goggles.

The man was diagnosed with a condition called retinitis pigmentosa 40 years ago, at the age of 18, according to a new report, published Monday (May 24) in the journal Nature Medicine. People with retinitis pigmentosa carry faulty genes that, due to many mutations, cause the light-sensitive cells in the retina at the back of the eye to break down, according to the National Eye Institute (NEI).

These genes would usually code for functional proteins in the retina, but instead fail to build those proteins, or make abnormal proteins that malfunction or produce substances that directly damage the retinal tissue. The condition affects roughly 1 in 4,000 people worldwide, according to the NEI, and can sometimes lead to complete blindness, as occurred in the 58-year-old patient in the new study, BBC News reported.

Related: 12 amazing images in medicine

In an attempt to treat the man's vision loss, scientists inserted genes that code for a light-sensing protein into a modified virus, then injected those genetically tweaked viral vectors into one of his eyes, the researchers reported. The protein, called ChrimsonR, is a engineered version of a light-sensitive protein found in unicellular algae, which allows the single-celled organism to detect and move toward sunlight, MIT Technology Review reported.

ChrimsonR belongs to a family of light-sensitive proteins called channelrhodopsins, hence the added "H" in crimson, and has been modified to react to colors within the reddish end of the color spectrum, namely amber light. By injecting genes for ChrimsonR into the retina specifically into retinal ganglion cells, a kind of nerve cell that sends visual signals to the brain the team hoped to make these cells sensitive to yellow-orange light, MIT Technology Review reported.

Here's where the special goggles came in. The goggles pick up changes in light intensity from the environment and then translate that signal into an intense, amber image that gets projected straight onto the patient's retina, with the aim of activating ChrimsonR. Months passed before a significant quantity of ChrimsonR accumulated in the man's eye and began to alter his vision, but eventually, he began to perceive patterns of light with help from the goggles, BBC News reported.

"The patient perceived, located, counted and touched" different objects using his treated eye, alone, and while wearing the goggles, the researchers wrote in the study. For instance, the patient could perceive a notebook and cups placed on a table in front of him, although when asked to count the cups he did not always give the correct number, according to MIT Technology Review.

Prior to receiving the therapy, the man could not detect any objects, with or without the goggles on, and following the injection, he could only see while wearing the goggles, since they convert all light into an amber hue, the researchers reported.

In addition to the notebook and cups, the patient reported being able to see the painted white lines at a pedestrian crossing, the BBC reported. "This patient initially was a bit frustrated because it took a long time between the injection and the time he started to see something," first author Dr. Jos-Alain Sahel, an ophthalmologist and scientist at the University of Pittsburgh and Institute of Vision in Paris, told the BBC. The patient began training with the goggles about 4.5 months after his injection and only started reporting improvements in his vision about 7 months after that, the team reported.

"But when he started to report spontaneously he was able to see the white stripes to come across the street you can imagine he was very excited. We were all excited," Sahel told the BBC.

Even now, the man's vision still remains fairly limited, in that he can only see monochromatic images and at a fairly low resolution. But "the findings provide proof-of-concept that using optogenetic therapy to partially restore vision is possible," senior author Dr. Botond Roska, founding director of the Institute of Molecular and Clinical Ophthalmology Basel at the University of Basel, told BBC News. ("Optogenetics" broadly describes the technique of using light and genetic modification to control the activity of neurons.)

Of course, although these initial results are exciting, the study is limited in that only one patient has received the treatment so far, James Bainbridge, a professor of retinal studies at the University College London who was not involved in the study, told the BBC.

Read more about the research in BBC News and MIT Technology Review.

Originally published on Live Science.

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Genes from algae helped a blind man recover some of his vision - Livescience.com

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Blind man regains some vision, with help from light-sensing algal protein – Science Magazine

May 27th, 2021 1:51 am

A blind man who received a gene from algae in one eye reaches for a notebook with the help of special goggles.

By Jocelyn KaiserMay. 24, 2021 , 12:20 PM

A blind man who received a gene for a light-sensing algal protein can now see and touch objects with the help of special goggles, researchers report today.

His vision gains are modesthe cannot see colors or discern faces or letters. But if the treatment helps other study participants, it may offer advantages over other vision technologies for severely blind people. And for neuroscientists, the result is a milestone: the first published report of using a relatively new technology called optogenetics to treat a disease in people.

Its not the kind of vision people dream of, but its a big step, says Jean Bennett of the University of Pennsylvania, who works on gene therapy for blindness but was not involved in the study.

Optogenetics uses light to control neurons. Scientists add the gene for a light-sensitive protein called an opsin from algae or bacteria and then shine a light on the cell to trigger the opsin to change shape, which switches the neurons activity on or off. Since it was developed nearly 20 years ago, optogenetics has mostly been used as a tool to study brain circuitry in animals. But researchers hope it can one day treat diseases such as Parkinsons and blindness.

The eye is the simplest place to start because it is small and easy to access, study co-leader Botond Roska, a physician-scientist at the University of Basel, said at a press conference last week.

The patients in the studya clinical trialhave an inherited disease called retinitis pigmentosa and have lost the retinal photoreceptor cells that use human opsins to turn light into electrical signals relayed to the brain. But their eyes still have the ganglion cells that route these signals to the brain via the optic nerve. That means the patients could potentially gain vision by giving these cells a microbial opsin.

The first volunteer was a 58-year-old French man who began going blind 40 years ago. When the experiment started, he could sense light but could not distinguish shapes. He received an injection in his worse eye of a harmless virus called an adeno-associated virus, which carried the gene for an opsin from algae. The researchers waited a few months for the ganglion cells in the patients eye to begin to produce the new protein. Then they began to train him to use special goggles that amplify incoming light from an image and focus it on the retina in the amber wavelength sensed by the opsin.

Within a few months, the man reported he could see the white stripes at a pedestrian crossing while walking outside wearing the goggles. He was very excited, although perhaps not as much as we were, study co-leader Jos-Alain Sahel, a physician-scientist at the University of Pittsburgh School of Medicine and the Vision Institute in Paris, said at the press conference.

Then the man started to pass lab tests: He could usually find and touch dark objects set on a white table, such as a notebook or box of staples, that he could not see without the goggles. And he could count up to three glass tumblers (see videos below). When the patient wore an electrode-studded cap that measures brain activity, the signals showed activity in the visual cortex, the part of the brain involved in seeing, the team reports today in Nature Medicine.

The man also told the researchers his daily life has improved. Wearing the goggles, he said, he can more easily find a plate or phone or detect furniture or a door.

The seven other patients treated so far in the trial havent been able to complete training with the goggles because of the coronavirus pandemic. Some are receiving higher doses of the viral vector that could help them see in more detail, as could tweaks to the goggles, the researchers saythough none of these improvements would allow for color vision.

Its fabulous that they got this to work in humans, says neuroscientist Pieter Roelfsema of the Netherlands Institute for Neuroscience. Right now, the only approved treatment for such patients is a device that sends signals from a camera mounted on a pair of glasses to electrodes implanted in the eye. It can improve light perception and allow some people to see shapes, but it requires surgery. Roelfsemas lab is developing a brain implant that has helped monkeys see letters, but it would be much more invasive than an eye injection, he notes.

The company that sponsored the trial, GenSight Biologics, isnt the only one working on optogenetics for blindness. RetroSense Therapeutics launched a trial 5 years ago but hasnt reported results. Another company, Bionic Sight, reported in March in a press release that four patients can now detect light and motion when looking into a device similar to a virtual reality set.

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Blind man regains some vision, with help from light-sensing algal protein - Science Magazine

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