Google AI breakthrough represents huge step in finding genes that cause diseases, scientists say
Google says it has made a significant step in identifying disease-causing genes, which could help spot rare genetic disorders. A new model named AlphaMissense is able to confidently classify 89 per cent of all possible “missense” variants in genes, identifying whether they are likely to cause diseases or benign. That compares with just 0.1 per cent of all missense variants that have been confidently classified by human experts. Missense variants happen when a single letter is substituted in the DNA, which in turn leads to proteins with a different amino acid. That small change can have significant effects – Google likened it to the way that changing a letter in one word can change the meaning of the whole sentence. Most of those variants are benign: the average person has more than 9,000 of them. But some of them can be disastrous, leading to rare genetic diseases. The new AlphaMissense looked at existing information about missense variants, and how commonly they are seen in humans and closely-related primates. It looked for those that were rarely seen, classifying them as pathogenic, and from that was able to use that information to analyse other protein sequences – giving not just a verdict on whether they were likely to cause problems, but also how confident it was. Experiments, conducted by humans, which look to find those mutations are expensive and slow: they require people to examine each unique protein and designed separately. Google says that the new system means that researchers can “preview” those results for thousands of proteins at a time, helping them decide where to focus. The company has used its systems to release a vast catalogue of “missense” mutations, so that researchers can learn about what effect they have. In some cases, those variations can lead to conditions such as cystic fibrosis, sickle-cell anaemia, or cancer, and understanding them could be key to researchers studying ways to treat or prevent those diseases. It is just the latest health breakthrough from Google’s Deepmind division, which is looking to use artificial intelligence to both identify and treat a variety of conditions. The new system was built on AlphaFold, the breakthrough model that helped unfold proteins, the building blocks of life. The research is described in a new paper, ‘Accurate proteome-wide missense variant effect prediction with AlphaMissense’, published in the journal Science. The catalogue is being made “freely available to the research community”, Google said, and the company will release the code behind the AI system. Read More BBC removes some Russell Brand content as monetisation suspended on YouTube Google Bard can now link to Gmail and other apps to help with responses Long-form video content is here to stay, says YouTube UK boss
2023-09-20 00:16
Who is Samantha Irvin? Ring announcer's reaction to potentially meeting Logan Paul in WWE sets Internet abuzz: 'Kick his a**'
Logan Paul had been involved in a feud with Ricochet who happens to be Irvin's real-life partner, over the summer
2023-10-23 20:50
Internet hails Hollywood's call for ceasefire between Israel and Hamas: All the celebs who 'refuse to be silent'
A-list Hollywood celebrities have written to US President Joe Biden requesting that he issue an order for Israel to stop fighting Hamas
2023-10-21 19:54
German lawmakers mull creating first citizen assembly
German lawmakers are considering whether to create the country’s first “citizen assembly” to advise parliament on the issue of food and nutrition
2023-05-10 22:50
Lula admitted to Brasilia hospital for hip surgery
BRASILIA (Reuters) -Brazilian President Luiz Inacio Lula da Silva was admitted to hospital on Friday to undergo surgery for hip
2023-09-29 19:57
A Las Vegas high school grapples with how a feud over stolen items escalated into a fatal beating
A Las Vegas high school is grappling with how a feud over stolen items escalated into a fatal beating
2023-11-23 01:51
Moscow will confiscate EU assets if Brussels 'steals' frozen Russian funds - Putin ally
MOSCOW Russia will confiscate assets belonging to European Union states it deems unfriendly if the bloc "steals" frozen
2023-10-29 16:53
Francesca Williams moved her family to Ecuador to build her ‘Shangri-La’. She was shot dead protecting them
In 2014, Francesca Williams moved her family from Colorado to a remote valley in Ecuador famous for the longevity of its residents to pursue their dream of building their version of “Shangri-La”. She and her husband Michael paid about $10,000 for a 10-acre plot of land on the side of a mountain just outside Vilcabamba to raise chickens, goats, horses, pigs, ducks and guinea fowl on a sustainable farm with their three daughters. It was a life they never could have afforded in the United States, but after years of hard work was starting to come to fruition, Francesca’s mother Marianna Benedict-Bacilla, 61, told The Independent in an interview. Francesca, a gifted artist, linguist, translator and published children’s author, threw her boundless energy into making the farm a success, Ms Benedict-Bacilla said. When Michael would travel back to the US for work, Francesca would remain in Ecuador with their three teenage daughters Rachel, 19, Renee 17, and Rebekah, 14, and her elderly father John to tend to the animals and plant crops. On 20 May, that idyllic life was shattered when at least four men armed with rifles burst onto the farm and shot Francesca dead. The attack was sudden, and extremely violent. The men knocked out Michael before he even realised they were on the property, and stabbed Williams’ elderly and infirm father John when he tried to intervene. Ms Benedict-Bacilla said Francesca had been hanging out the washing when she saw the assailants attack her father, and rushed to help him. “Francesca gave her life trying to save her father’s,” Ms Benedict-Bacilla told The Independent. “My daughter was petite, but she guarded her family ferociously. She always knew if there was ever a problem, nothing would get in the way.” Rachel, their middle daughter, told Colorado news site KDVR in an interview last week that she had seen her mother “scrambling after” a man trying to fight him off. Then she saw “two sparks of a gun” as the assailant fired at her mother. Her older sister ran to a neighbour’s for help. The stick up crew tied up Michael, John, and two of the daughters, and locked them in separate rooms throughout the house before making off with wallets, iPads and computers. “It was horrendous. They were essentially hostages in their own home,” Ms Benedict-Basilla said. Rachel recalled hearing the men asking in Spanish for the “large aunt”, and thought they might have targeted their home by mistake. It was only when Michael managed to untie his hands about an hour later that he found his wife’s body, Ms Benedict-Bacilla told The Independent. He put the family in their vehicle, and raced to an emergency medical centre. Michael and John received medical attention in a hospital, while the daughters were unharmed. “We were very humble people, we don’t understand why we were targeted,” Michael told San Diego’s KGTV. Francesca’s death has torn open the family’s generational trauma from the 1967 unsolved murder of her aunt Nikki Benedict who was stabbed to death walking home from school aged 14, Ms Benedict-Basilla said. ‘Everything was taken from them’ Three years before her death, Francesca Williams had written of her fears of home invasion and violent crime in her adopted home on the knowledge-sharing website Quora. Asked about Ecuadorean stereotypes, Williams said she had been told of the high risk of robberies prior to moving there. “We have not experienced this as of yet, but live in constant awareness of this danger,” she said. “I know many, many foreigners who have experienced home invasion robberies and I would not have come here if I had any idea of how close to home such attacks would be. It is essential that one have intimidating dogs and bars on one’s windows.” Ms Benedict-Basilla told The Independent the family had been especially on edge after an expat neighbour was shot dead trying to repel a home invasion. The gunmen’s modus operandi in that case was eerily similar to the attack that killed Francesca, she said. The homeowner had confronted a group of assailants as they tried to break in, and was shot dead. Ms Benedict-Basilla believes they could be the same group that targeted her family. The family are holding out hope of finding justice for Francesca, but say not enough is being done to make the town safe for the vibrant community of artists and retirees who have made it their home. “The government isn’t putting any effort into investigating the things that happen there,” she told The Independent. She said the local police were doing their best. “But they don’t give them the resources that they need and these murders aren’t being investigated.” No suspects have been identified in either killing. The local Vilcabamba police force was doing what it could, she said, but without the support of the Ecuadorean National Police there seemed to be little chance of finding the killers. The Policía Nacional del Ecuador did not respond to numerous requests for comment about the investigation. It has barely received any mention in the Ecuadorean press. In a statement, a US State Department spokesperson told The Independent: “We offer our sincerest condolences to the family on their loss. “We are in contact with the family and are providing all appropriate consular assistance. “We refer you to the government of Ecuador for information regarding any local investigation.” State Department figures show 15 US citizens were murdered in Ecuador between 2010 and June 2022, but it’s unclear if those figures capture recent attacks around Vilcabamba. Francesca’s family have taken little comfort from the Ecuadorean authorities’ response, and will not be returning, Ms Benedict-Basilla said. “Everything was taken from them.” ‘The Valley of Longevity’ In expat forums, adopted residents have spoken out about the “impotence” of the local police force to combat a rising tide of rape, home invasion and murder against the foreigners who have made Vilcabamba their home. In response, local expat communities have formed neighbourhood security groups, and any disturbances are quickly shared through WhatsApp groups. The town, situated in the lower Ecuadorean Andes near the border with Peru, gained worldwide attention in the 1970s, when Harvard professor Alexander Leaf travelled there to report on claims that residents were living to the age of 130 for National Geographic. The subtropical valley’s year-round spring climate, crystal-clear water, pollution-free air and abundance of produce supposedly supposedly allowed the male residents to continue to carry out manual labour and conceive children until well past 100. The area, known as The Valley of Longevity, became inundated with gerontologists who wanted to know more about how that delicate balance of good genes and healthy natural environment was prolonging lives. They later grew sceptical about some of the residents’ claims when they were unable to produce credible birth records. But that didn’t stop a large number of expats moving there to buy property over the years, gentrifying the area, and sometimes bringing them into conflict with the locals who still worked the fields for a few hundred dollars per month. By 2007, that global fame was harming Vilcabamba’s local community, according to a Reuters report. “These days, the famous elders of Vilcabamba are dying at a younger age, the result of the stresses of modern life brought by the scores of tourists and health buffs who flock here in search of eternal youth,” Reuters wrote. ‘Generational trauma’ In May 1967, Ms Benedict-Bacilla’s sister Nikki Benedict was stabbed to death while she walked home from her friend’s house in Poway, near San Diego, aged just 14. She suffered knife wounds to the neck and chest in the brazen daylight attack and was found bleeding to death in a field. The murder has never been solved. Their mother had been the editor of the local newspaper at the time, and had to write an article about her own daughter’s death, Ms Benedict-Bacilla told The Independent. Ms Benedict-Basilla was five at the time, and the tragedy, and lack of answers about what had happened defined her childhood, she said. “It was all I ever knew,” she said. “We’ve had so much family tragedy. You don’t heal, you just get stronger.” Ms Benedict-Bacilla runs a Facebook group dedicated to finding her sister’s killer, and speaks out every anniversary of her death to keep focus on solving the heinous killing. As a way of dealing with her own psychological wounds, Ms Benedict-Bacilla became a specialist in trauma intervention and volunteers for the American Red Cross and the Poway Community Emergency Response Team. She likens the kind of generational trauma that her family suffered after Nikki’s murder to a “cancer” that can never fully heal, but can only be managed through finding strength in keeping their loved ones memory alive. She had seen Francesca grow up in the shadow of that trauma, and took comfort from the fact that her granddaughters would be one generation removed from it. “They stole (Francesca’s) future, and they stole her children’s future. It will be part of them now because that’s how generational trauma works,” she told The Independent. ‘A quest for knowledge’ Francesca Williams excelled at anything she turned her hand to, Ms Benedict-Basilla told The Independent. “She was an extraordinarily gifted person, just mega-smart,” Ms Benedict-Basilla said. Coming from four generations of journalists and editors, Francesca Williams wanted to be a writer from an early age, her mother said. But when it was time to choose a major, she opted to study linguistics at the University of California, San Diego. She was fluent in French and Lithuanian, her great-grandmother’s home tongue. She had known her husband Michael since they were children, and decided to move from Poway to Kommerling, Colorado, when the cost of living in California became too high. Francesca hadn’t known Spanish prior to moving to Ecuador, and within a year she was fluent and carrying out legal transcriptions, her mother said. She had also recently published her first illustrated children’s book, The King’s Magic, and was a brilliant artist on “any medium”, her mother says. “Anything she touched she turned into beautiful art. A lot of people who are that bright can get into trouble in life, she put it all into a quest for knowledge.” Francesca’s body was returned to the US last week, but the family are still trying to get their beloved Corgi Banksy home. Her funeral was held in Colorado on Saturday 3 June. A GoFundme page has been set up to help the family. Read More American expat shot dead on her ‘Shangri-La’ off-the-grid farm in Ecuador Ecuador's president declines to run in snap elections after he disbands National Assembly Funeral held for teen shot by gas station owner over false shoplifting claims as community shares outrage
2023-06-07 05:47
Dorset men in court over alleged tree investment fraud
The men are accused of fraudulently promising returns on a forestry scheme in Costa Rica.
2023-06-28 21:19
Owner of day care where toddler died of suspected fentanyl exposure dubbed ‘depraved’ in court hearing
The owner of a New York day care where a one-year-old boy died of fentanyl exposure was dubbed “depraved” during a court hearing. Youngster Nicholas Dominici died after he was exposed to the opioid at a Bronx facility on Friday, while three other young children were hospitalised. Daycare owner Grei Mendez, 36, and tenant Carlisto Acevedo Brito, 41, were arrested on charges including murder, manslaughter and assault. A kilo of fentanyl was found in a hallway closet outside Mr Brito’s room, which he rented from Ms Mendez for $200 a week, according to investigators. Prosecutors told a judge during a Sunday night arraignment hearing that Ms Mendez had taken part in the “reckless depraved act” by renting Mr Brito, her husband’s cousin, the room, reported ABC News. Her lawyer told the court that his client, who faces a sentence of life imprisonment if convicted, had no idea that drugs were being stored at the daycare. “Her only crime was renting her room to someone who had a kilo,” attorney Andres Aranda said. “There is no evidence that she did anything but care properly for these children.” Police say that drug production equipment was also found inside the daycare. Investigators believe that the children inhaled fentanyl particles during their daylong exposure to the drug before they were found unconscious and the alarm was raised. The judge said that Mr Brito, a national of the Dominican Republic in the country illegally, was a flight risk. He also said that Ms Mendez, who is not a US citizen and also has ties to the Dominican Republic, was a flight risk. Authorities are also looking to question Ms Mendez’s husband, who they say was captured on video fleeing the daycare with bags after the incident. “I love him, I miss him, I want him back – but there’s nothing that will give me back my son – when I came home from work and walked through the door, he’d say ‘daddy, daddy!’” Nicholas’s father, Otoniel Feliz, told ABC7. “My wife was on her way to the day care. She was going to pick him up early. Shortly before she arrives, she receives the call and also sees the ambulance.” Read More One-year-old child dead and three others hospitalised after daycare incident
2023-09-19 07:26
Argentines grill more steak despite pressures of 109% inflation
By Anna-Catherine Brigida and Lucila Sigal BUENOS AIRES Argentines are expected to eat the most beef in five
2023-06-03 05:54
New York subway shooter expected to be sentenced today
The man who set off a smoke bomb and opened fire on a crowded New York City subway train last year, shooting 10 people, is expected to learn his sentence Thursday.
2023-10-05 22:51
You Might Like...
Police: 3 dead, 3 wounded in shooting at Maryland home stemming from dispute
Stock market today: Asian shares mostly rise after Fed chief speech
Her gun violence plan is probably unconstitutional. This governor is doing it anyway
UAE announces groundbreaking mission to asteroid belt, seeking clues to life's origins
D-backs' Christian Walker blows through stop sign, hosed by Adolis García in Game 3 of World Series
Financial warning alarms for Pence and other long-shot candidates as 2024 approaches
JPMorgan chief Dimon to sell some of his own company stock for first time
Israel clinches largest-ever defense deal with Germany for $3.5 billion after securing US approval
