Connect with us

Tech

Gene therapy offers hope to those with ultra-rare genetic illnesses

Published

on

Gene therapy offers hope to those with ultra-rare genetic illnesses


These desperate efforts ask parents to overcome nearly impossible obstacles. They must become experts in drug development, raise millions, and tirelessly cajole scientists. Few people can pull it off.

“There are a lot of people who know how to do gene therapy, but the knowledge is all fragmented, and so much can go wrong,” says Sanath Kumar Ramesh, a software developer whose son is afflicted by a different rare disease. Ramesh founded an organization, Open Treatments, that is building software families can use to organize gene-therapy research, including steps such as hiring scientists to create animal models of an illness.

“I think in the future, the distinction between scientists and parents is going to be blurred,” he says.

For parents whose kids have already been accepted into the Dayton trial, gene therapy may be their last chance. One of them is Meagan Rockwell, a nail technician in Cedar Rapids, Iowa, whose daughter, Tobin Grace, now three and half, was diagnosed with Canavan in 2018.

“They told us sorry, there is nothing we can do—no treatment, no cure—you will be lucky if she sees her fifth birthday. It was a hard blow, to know your only child has a life-limiting brain disease,” Rockwell says.

Rockwell says she found out about Leone’s gene-therapy effort online and eventually raised more than $250,000. “At the time, Tobin was the youngest person in the US with Canavan, and I think that played a huge factor in her acceptance,” she says, adding that Leone tells parents money puts them at the front of the line but doesn’t guarantee treatment.

Bateman-House, the bioethicist, says another risk is whether parents can really judge the benefits of an experimental procedure in a “dispassionate” way, especially if they have sunk a fortune into the effort. “It’s not only that their child is facing a dangerous condition; it’s that their blood, sweat, and tears is what is funding this intervention,” she says. “It could be incredibly difficult for a parent to change their mind and say ‘We are not going to do this.’“

Hope versus risk

The Dayton study currently has enough supplies of the genetic drug to treat only nine or 10 children. It was manufactured in Spain, but only after the researchers and families overcame what they call an ordeal of red tape, delays, and obstacles, some thrown up by government regulators who decide which genetic treatments can be tried and whether trials are properly planned.

At one point, in 2019, the Landsmans took their sons to the US Food and Drug Administration for a meeting they landed after dozens of calls to lawmakers. “Beforehand we were a case number in their big pile of paper,” says Jennie Landsman, the boys’ mother. “They had very technical objections. In the meeting we held up Benny and Josh, and we said ‘We hope this issue that is so technical isn’t going to stop the treatment.’”

Benny Landsman and his younger brother Josh both suffer from Canavan disease, a fatal inherited disorder. In April, Benny underwent a gene therapy procedure in a bid to add a corrected gene to his brain cells.

COURTESY OF JENNIE LANDSMAN

The Dayton trial won a greenlight in December and began barely in time for Benny, who will hit the age cutoff of five years in June. “Benny is the pilot. Benny is the ‘God, we hope this works’ kid,” says Rockwell, who doesn’t yet have a date for her daughter’s procedure.

What’s the chance the therapy works? Gene-replacement techniques have been having notable successes, curing kids who don’t have immune systems, and preventing brain diseases. Since 2017, a small number of gene therapies have also been approved for sale in the US, at prices as high as $2.1 million per child.

Record prices have stoked interest among specialist biotech companies, which now see a business even in super-rare diseases. One, called Aspa Therapeutics, says it has plans to initiate a different Canavan gene-therapy trial. Its CEO, Eric David, estimates there are 1,000 children alive with the disease in the US and Europe. “That, for us, is enough,” he says.

There’s no certainty gene therapy will succeed in Canavan. Even if the corrected gene stops the disease from progressing, the kids’ brains may have already been irreversibly damaged.

Tech

Yann LeCun has a bold new vision for the future of AI

Published

on

The Download: Yann LeCun’s AI vision, and smart cities’ unfulfilled promises


Melanie Mitchell, an AI researcher at the Santa Fe Institute, is also excited to see a whole new approach. “We really haven’t seen this coming out of the deep-learning community so much,” she says. She also agrees with LeCun that large language models cannot be the whole story. “They lack memory and internal models of the world that are actually really important,” she says.

Natasha Jaques, a researcher at Google Brain, thinks that language models should still play a role, however. It’s odd for language to be entirely missing from LeCun’s proposals, she says: “We know that large language models are super effective and bake in a bunch of human knowledge.”

Jaques, who works on ways to get AIs to share information and abilities with each other, points out that humans don’t have to have direct experience of something to learn about it. We can change our behavior simply by being told something, such as not to touch a hot pan. “How do I update this world model that Yann is proposing if I don’t have language?” she asks.

There’s another issue, too. If they were to work, LeCun’s ideas would create a powerful technology that could be as transformative as the internet. And yet his proposal doesn’t discuss how his model’s behavior and motivations would be controlled, or who would control them. This is a weird omission, says Abhishek Gupta, the founder of the Montreal AI Ethics Institute and a responsible-AI expert at Boston Consulting Group. 

“We should think more about what it takes for AI to function well in a society, and that requires thinking about ethical behavior, amongst other things,” says Gupta. 

Yet Jaques notes that LeCun’s proposals are still very much ideas rather than practical applications. Mitchell says the same: “There’s certainly little risk of this becoming a human-level intelligence anytime soon.”

LeCun would agree. His aim is to sow the seeds of a new approach in the hope that others build on it. “This is something that is going to take a lot of effort from a lot of people,” he says. “I’m putting this out there because I think ultimately this is the way to go.” If nothing else, he wants to convince people that large language models and reinforcement learning are not the only ways forward. 

“I hate to see people wasting their time,” he says.

Continue Reading

Tech

The Download: Yann LeCun’s AI vision, and smart cities’ unfulfilled promises

Published

on

The Download: Yann LeCun’s AI vision, and smart cities’ unfulfilled promises


“We’re addicted to being on Facebook.”

—Jordi Berbera, who runs a pizza stand in Mexico City, tells Rest of World why he has turned to selling his wares through the social network instead of through more conventional food delivery apps.

The big story

“Am I going crazy or am I being stalked?” Inside the disturbing online world of gangstalking

August 2020

Jenny’s story is not linear, the way that we like stories to be. She was born in Baltimore in 1975 and had a happy, healthy childhood—her younger brother Danny fondly recalls the treasure hunts she would orchestrate. In her late teens, she developed anorexia and depression and was hospitalized for a month. Despite her struggles, she graduated high school and was accepted into a prestigious liberal arts college.

There, things went downhill again. Among other issues, chronic fatigue led her to drop out. When she was 25 she flipped that car on Florida’s Sunshine Skyway Bridge in an apparent suicide attempt. At 30, after experiencing delusions that she was pregnant, she was diagnosed with schizophrenia. She was hospitalized for half a year and began treatment, regularly receiving shots of an antipsychotic drug. “It was like having my older sister back again,” Danny says.

On July 17, 2017, Jenny jumped from the tenth floor of a parking garage at Tampa International Airport. After her death, her family searched her hotel room and her apartment, but the 42-year-old didn’t leave a note. “We wanted to find a reason for why she did this,” Danny says. And so, a week after his sister’s death, Danny—a certified ethical hacker—decided to look for answers on Jenny’s computer. He found she had subscribed to hundreds of gangstalking groups across Facebook, Twitter, and Reddit; online communities where self-described “targeted individuals” say they are being monitored, harassed, and stalked 24/7 by governments and other organizations—and the internet legitimizes them. Read the full story.

Continue Reading

Tech

The US Supreme Court has overturned Roe v. Wade. What does that mean?

Published

on

The US Supreme Court has overturned Roe v. Wade. What does that mean?


Access to legal abortion is now subject to state laws, allowing each state to decide whether to ban, restrict or allow abortion. Some parts of the country are much stricter than others—Arkansas, Oklahoma and Kentucky are among the 13 states with trigger laws that immediately made abortion illegal in the aftermath of the ruling. In total, around half of states are likely to either ban or limit access to the procedure, with many of them refusing to make exceptions, even in pregnancies involving rape, incest and fetuses with genetic abnormalities. Many specialized abortion clinics may be forced to close their doors in the next few days and weeks.

While overturning Roe v Wade will not spell an end to abortion in the US, it’s likely to lower its rates, and force those seeking them to obtain them using different methods. People living in states that ban or heavily restrict abortions may consider travelling to other areas that will continue to allow them, although crossing state lines can be time-consuming and prohibitively expensive for many people facing financial hardship.

The likelihood that anti-abortion activists will use surveillance and data collection to track and identify people seeking abortions is also higher following the decision. This information could be used to criminalize them, making it particularly dangerous for those leaving home to cross state lines.

Vigilante volunteers already stake out abortion clinics in states including Mississippi, Florida and North Carolina, filming people’s arrival on cameras and recording details about them and their cars. While they deny the data is used to harass or contact people seeking abortions, experts are concerned that footage filmed of clients arriving and leaving clinics could be exploited to target and harm them, particularly if law enforcement agencies or private groups were to use facial recognition to identify them.

Another option is to order so-called abortion pills to discreetly end a pregnancy at home. The pills, which are safe and widely prescribed by doctors, are significantly less expensive than surgical procedures, and already account for the majority of abortions in the US.

Continue Reading

Copyright © 2021 Seminole Press.