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A family that raised $2 million for their baby's life-saving medical treatment has received it for free – CNN

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Lucy Van Doormaal, now 7 months old, was born with spinal muscular atrophy (SMA), a genetic disease that causes infants’ muscles to waste away, potentially killing them before age 2.
After her family raised nearly $2 million to pay for a potentially life saving treatment, administered as a one-time infusion into a vein, Lucy was randomly selected by drug company Novartis Gene Therapies to receive the treatment for free through its Managed Access Program (MAP).
“We were totally shocked, we didn’t expect this outcome but we were just so happy because our single goal was providing the treatment to Lucy,” Laura Van Doormaal, Lucy’s mom, told CNN. “This has been a traumatic experience, having to fight for treatment and put our life out there to fund it, so this is really a relief.”
Lucy, her parents Scott and Laura Van Doormaal, and her 3-year-old brother Sullivan.
SMA is an inherited disorder stemming from a defective gene that leads to the death of nerve cells responsible for moving the muscles that allow people to walk, talk, breathe and swallow, according to the National Institute of Neurological Disorders and Stroke.
Lucy has type 1 SMA, the most aggressive and severe form of the disease which leaves her nearly unable to crawl, swallow or even breathe. Lucy’s only chance of surviving past her second birthday was Zolgensma, one of the only approved treatments for SMA.

Another chance of survival

Since receiving the treatment, Van Doormaal said Lucy has already shown significant improvement.
“We noticed an immediate difference. The biggest changes are her head control, really quickly after the treatment she was able to hold her head up which is something she’s never done before. She can sit with some support and hopefully one day she’ll crawl,” Van Doormaal said.
“Maybe one day she’ll even walk. That’s really an optimistic dream, I know, but we like to have high expectations and we don’t want to hold her back.”
The gene therapy treatment, which comes with the hefty price tag of $2.125 million, alters the patient’s biology — but it’s still not a guaranteed cure.
Zolgensma replaces a working copy of the defective gene into those nerve cells before they die and symptoms develop.
The treatment is available in the US and other countries, but is not yet approved in Canada. However, British Columbia Children’s Hospital was able to provide Lucy with treatment, Van Doormaal said.
In 2020, Novartis launched a Managed Access Program to provide 100 eligible patients with SMA under the age of 2 in countries where Zolgensma is not approved.
“While we aren’t providing specific numbers at this time, we can confirm that already the program has enabled children across Asia, Australia, Europe and North America (including Canada) to receive treatment who may not have otherwise had access to the therapy,” a Novartis Gene Therapies company spokesperson told CNN.

Learning to live with SMA

On April 1, 2020, at 7:35 p.m., Lucy was born at a hospital in Vancouver, weighing 7 pounds and 13 ounces, with big bright blue eyes. Right away, she took to sucking her thumb.
She was a perfectly healthy baby until two weeks later, when Lucy’s parents began to notice her struggling to breathe and move her arms. When she was no longer able to bring her thumb to her mouth, they knew something was very wrong.
“When we first took her home, we were in newborn bliss. Just absolutely in love with her. She was a great baby,” Van Doormaal said. “But we started to realize her movement was declining. She had trouble breathing and eating. When she was five weeks old, she was diagnosed with spinal muscular atrophy.”
Lucy at the hospital before receiving Zolgensma.Lucy at the hospital before receiving Zolgensma.
Since SMA results in severe respiratory issues, Lucy sleeps hooked to a BiPAP (Bilevel Positive Airway Pressure) machine, a non-invasive ventilator, to help her breathe. Her family also uses an oximeter to monitor her pulse and blood oxygen levels.
Because Lucy has lost the ability to feed on her own through her mouth, she has also undergone surgery to receive a gastrostomy tube.
While every child responds differently to Zolgensma, there is a chance Lucy will be able to outgrow the gastrostomy tube. She may also be able to hit other critical milestones, like sitting, rolling, crawling and maybe one day even walking. It might also strengthen her breathing and swallowing muscles, which will have the biggest impact on her quality of life.
“Now that we got the treatment we can focus on her recovery and her progress and enjoying her as a baby, but we also now have to face the grief we are feeling from the diagnosis and process what our new life looks like,” Van Doormaal said. “These are all healthy things that needed to happen, so we definitely feel so much more hopeful about our future.”
The money raised through the family’s GoFundMe has been donated to other babies with SMA who needed Zolgensma as well as a few charities, with the rest of the funds going towards Lucy’s future medical needs.

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FIFA 21 PS4 Vs. PS5 Graphics Comparison – Forbes

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FIFA 21 is available a day early on next-gen systems for fans who purchased the game on the current-gen version. There are a number of gameplay videos surfacing, but most of them aren’t exactly capturing the beauty of 4K gameplay due to system limitations.

Operation Sports’ YouTube channel has not only found the right settings for 4K capture on the PlayStation 5, it has also put together a video that compares the game side-by-side to the PlayStation 4 version.

Take a look in the video below:


Early Impressions: The Biggest Differences

The haptic feedback in the PS5 controller continues to be a game-changer, and that’s especially the case in sports games. In FIFA on PS5, in addition to some resistance in the triggers when you’re controller a tiring player, you can feel a rumble from the eruption of a large crowd in one of the game’s massive stadiums.

It might be one of the most immersive usages of the technology I’ve felt in almost three weeks of gameplay.

The visual differences aren’t quite as noticeable. Closeups of players generate some stunning detail, but from the playable cameras, it’s tougher to see the upgrades. Quite honestly, with a game like world football, this is to be expected.

The gameplay feels solid, but I cannot say that I’m feeling a major difference on that front as of yet.

However, I will hone in on the areas of the game that were said to have be upgraded, and that will be my focus areas in my upcoming review.


Review is in Process

Expect to see a full review of the PS5 version of FIFA 21 by Monday, December 7.

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Federal COVID Alert app wasn't working for some users for much of November – CBC.ca

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The developers of Canada’s COVID Alert app fixed a glitch last week that left some users without exposure notifications for much of November.

An update to the app released on Nov. 23 said it would fix a “bug causing gaps in exposure checks for some users.” Without the patch, some Canadians running the app would not have been notified if they came in close contact with someone diagnosed with COVID-19.

It’s unclear how many people missed exposure notifications due to the glitch. But it does raise the prospect that certain users weren’t advised to self-isolate or seek a COVID-19 test in a timely manner, potentially delaying diagnosis.

“For two weeks, the app basically didn’t work” for those users, said Urs Hengartner, an associate professor of computer science at the University of Waterloo.

He and others on social media said their devices had not performed any exposure checks from Nov. 9 to 23. The process — when a smartphone receives codes from a central server and verifies whether the user was potentially exposed to someone with COVID-19 — is supposed to take place several times a day. 

WATCH | How the COVID Alert app works

[embedded content]

The problem appears to have first been reported by commenters in the Google Play Store as early as Nov. 12. That’s 11 days before it was fixed.

“I noticed today that COVID Alert has done no exposure checks for the last two weeks,” a user wrote in Apple’s App Store on Nov. 20. “What good is this?”

Users are urged to check their app store (the Google Play Store for people with Android devices and Apple’s App Store for those with iPhones) to ensure their app is now up to date. Users who haven’t installed the latest update — version 1.1.2 — could still be missing exposure checks. 

COVID Alert is designed to take note when two users spend at least 15 minutes less than two metres apart. If a user later tests positive for COVID-19, they can use the app to anonymously notify contacts of potential exposure. 

COVID Alert has been downloaded more than 5.5 million times and is touted by federal officials as a tool to help slow the spread of the virus. The app is active in the Northwest Territories and all provinces except Alberta and B.C.

During the two-week period in November when some users reported the malfunction, 1,182 people used the app to report a positive test in Ontario alone, according to provincial data.

COVID-19 infection rates continued to rise across much of the country during that time. Ontario, for example, announced lockdown measures in its two most populous regions, and P.E.I. and Newfoundland and Labrador both announced on Nov. 23 they would withdraw from the Atlantic bubble due to increasing case counts elsewhere in the region.

The COVID Alert app is designed to notice when two users spend at least 15 minutes less than two metres apart. (Ben Nelms/CBC)

Bianca Healy, a spokesperson for the Treasury Board of Canada Secretariat, which houses the app’s development team, confirmed in an email Thursday evening that “on some devices, if the app was not opened by the user for an extended period of time, COVID Alert would stop checking in the background for the random codes that would trigger a notification that a user may have been exposed to COVID-19. This bug has now been fixed.”

Healy said the app’s built-in privacy features prevent federal officials from knowing how many users may have been affected.

“We encourage Canadians to update COVID Alert as soon as possible,” she wrote. “They can also open the app to ensure that COVID Alert is checking for potential exposures.”

Hengartner, the computer science professor, said it is “a little concerning that it took two weeks to fix this bug.” He said both he and his wife experienced the same issue.

He called it “a fatal bug for this kind of system,” as it defeats the purpose of the app entirely.

It’s unknown what caused the glitch, but Hengartner said he suspects it was an error in a previous COVID Alert update.

Users weren’t immediately warned

Smartphone users can choose to automatically receive app updates or download them manually. Apple’s App Store lists 14 updates for COVID Alert since its initial release in July. 

The Canadian Digital Service, the federal agency responsible for developing the app, tweeted a message on Nov. 26 asking users to make sure they have the latest COVID Alert update. “This will ensure your app is doing what it’s supposed to do, and you’re not missing any checks or notifications,” the message read.

The tweet did not mention that the scenario it described was real and posed a potential risk to some users. It’s unclear what other steps the federal agency took to alert users of the importance of the latest update.

Hengartner stressed the problem should not discourage Canadians from installing COVID Alert.

However, Kelly Bronson, a Canada Research Chair in science and society, said the episode does highlight how the app could provide users with a “false sense of security.” She pointed to “automation bias,” a human tendency to rely on automated decision-making, which can reduce personal vigilance.

Bronson, who serves on the Global Pandemic App Watch program at the University of Ottawa, which tracks the uptake of similar tools around the world, warned the apps “are not a panacea.”

“I think it’s really important that people know the limitations of these technologies,” she said.

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Google Scientist's Abrupt Exit Exposes Rift in Prominent AI Unit – BNN

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(Bloomberg) — Google’s decision to part ways with a prominent researcher laid bare divisions within the company’s artificial intelligence unit and subjected its leader, the lauded software engineer Jeff Dean, to widespread scorn.

Timnit Gebru, a renowned scientist and one of the few Black women in AI, said Wednesday she was fired over an email she authored expressing dismay with management and the way it handled a review of her research. Gebru had been co-head of the team examining the ethical ramifications of AI.

What followed was a torrent of criticism of Google’s AI division, much of it aimed at Dean. “The termination is an act of retaliation against Dr. Gebru, and it heralds danger for people working for ethical and just AI — especially Black people and People of Color — across Google,” a group of hundreds of academics and researchers, many of them Google employees, wrote in an open letter. Among its demands: that Dean and his colleagues explain their decision-making around Gebru’s research.

The fallout threatens to tarnish the reputation of one of the industry’s leading research shops, a division of Alphabet Inc.’s Google that not only aids development of lucrative products but also contributes significantly to the world’s understanding of AI. And in a company brimming with computer scientists, few have been as revered as Dean. He oversees a sprawling research empire and has publicly championed more diverse hiring in AI and computer science. His programming prowess became the subject of corporate lore and glowing press coverage, including one article that called him the “Chuck Norris of the internet.”

“Ousting Timnit for having the audacity to demand research integrity severely undermines Google’s credibility for supporting rigorous research on AI ethics,” said Joy Buolamwini, the founder of the Algorithmic Justice League who wrote a ground-breaking paper, with Gebru, on racism in facial recognition software. The widely cited 2018 study showed facial recognition software misidentified dark-skinned women as much as 35% of the time — compared with near precision in White men.

Dean and Google representatives didn’t respond to requests for comment. In an email to colleagues Thursday that was seen by Bloomberg, Dean defended his handling of the matter. He wrote in part that Gebru hadn’t followed company policy in submitting the paper for peer review, that it ignored “too much relevant research,” and that Gebru and colleagues made unrealistic demands when they were informed “that it didn’t meet our bar for publication.”

Under Dean, Google has assembled a diverse group of AI ethics scientists with backgrounds in tech and social science, but some of those employees are now wondering if they are free to do their jobs. Inside Google’s research unit, several people openly questioned their future at the company, while others felt compelled to apologize to recently hired researchers, according to a person who asked not to be identified discussing internal matters.

“The egregiously aggressive retaliation from Jeff Dean and other senior leaders at Google is indicative of the lack of respect that they have both for Black women and academic freedom and integrity,” said Ifeoma Ozoma, a former Google policy associate.

The controversy came to a head Wednesday, when Gebru, the co-lead of Google’s Ethical Artificial Intelligence unit, posted on Twitter about her dismissal. She said that the company had demanded she retract a research paper she co-authored that criticized computer language models — including methods Google uses for its search engine and voice assistant.

In an email to colleagues earlier in the week that was also seen by Bloomberg, Gebru accused Dean’s division of not hiring enough women and silencing employees from marginalized groups. She told her colleagues to stop working “because it doesn’t make a difference.” In a subsequent message to Gebru, Google cited that email as a missive “inconsistent with the expectations of a Google manager.”

In his Thursday email to staff, Dean said he had accepted Gebru’s resignation after declining to meet her demands about the unpublished research paper. He also mentioned her comments supporting a work stoppage. “Please don’t,” the executive pleaded.

Dean’s email didn’t go over well. On Twitter, Alex Hanna, a researcher on Google’s Ethical AI team, accused Dean of “spreading misinformation and misconstruals” in the email.

“I’m extremely disappointed in @JeffDean today,” Kelly Ellis, a former Google engineer who now works at MailChimp, wrote on Twitter. “Shame on you, @JeffDean. I naively expected more from you,” said Eddie Kay, another former Google engineer.

Dean joined Google in 1999 and climbed its ranks — he’s now one of select Senior Vice Presidents — largely on his software engineering ability. In 2018, he was named the head of Google’s AI unit, widely considered the global leader in cutting-edge efforts like speech detection and image recognition.

Soon, though, that job entailed dealing with controversies. That year, Google staff rebelled against the company’s work on an AI project for the Pentagon. Researchers at the company also spoke out about how bias in AI unfairly targeted people of color in several instances, from Google’s Photo app to the algorithms used in bank loans and police work.

Since then, Google released a set of ethical guidelines for its AI, including barring facial recognition for surveillance. The tech giant set up advisory counsels, which itself struggled to function. It also hired a handful of experts like Gebru, who had worked at Microsoft Corp., and paid them to research topics around AI and ethics.

Gebru was one of five Google staff listed on the research paper at the heart of her dismissal, along with two outside researchers. Emily M. Bender, a linguist from the University of Washington who co-authored the research, said she didn’t know about the issues Google had with the research. “[Gebru] is an incredibly respected leader in this field,” Bender said. “By pushing her out, Google is losing a major asset.”

In the past two years, several internal critics of Google’s approach to AI and ethics have left the company. On Thursday, staff on Dean’s unit referenced these departures as a sign of the low morale on the team. “The chilling effects of the decisions behind-the-scenes continue to haunt me,” Margaret Mitchell, co-head of the ethical AI team, wrote in an email viewed by Bloomberg News.

Dean took a more calibrated tone about the most recent exit. “I know we all genuinely share Timnit’s passion to make AI more equitable and inclusive,” he wrote in the email to his staff. “No doubt, wherever she goes after Google, she’ll do great work and I look forward to reading her papers and seeing what she accomplishes.”

©2020 Bloomberg L.P.

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