Latest news with #Whiffin
Wales Online
8 hours ago
- Sport
- Wales Online
Wales coach names new captain for youngsters' clash against England
Wales coach names new captain for youngsters' clash against England Wales U20s have a new captain for Friday's clash with England U20s Dragons No 8 Evan Minto will captain Wales U20s against England U20s on Friday night (Image: Chris Fairweather/Huw Evans Agency ) Richard Whiffin has named Dragons No 8 Evan Minto as his new Wales U20s captain for this Friday's clash with England U20s in Pontypool. Openside flanker Harry Beddall captained the side for the Six Nations but Minto has been given the honour for this U20s World Cup warm-up match against England. Wales pulled off a stunning victory over England in the final game of the U20s Six Nations at the Arms Park in March and repeating that would give Whiffin's side a major confidence boost. Minto is part of a new-look back row which includes Dragons' team-mate Ryan Jones and Gloucester flanker Caio James. The 19-year-old had an impressive Six Nations campaign and Whiffin had no hesitation in handing over the captaincy responsibilities in place of Beddall, who will start from the bench. Sign up to Inside Welsh rugby on Substack to get exclusive news stories and insight from behind the scenes in Welsh rugby. 'He is a very emotional leader but I think, alongside our tactical leaders in the squad, he will get the balance right,' said Whiffin. 'He is a local Pontypool guy plus we wanted to see a slightly different back row. From the performances he put in during the Six Nations, he has certainly put his hand up for the captaincy role.' Article continues below Wales kick-off their World Cup campaign with a tough match against Argentina but first face warm-ups against England in Pontypool and Italy at the Arms Park. Ospreys full-back Lewis Edwards is an exciting player to watch out for, with Bristol's Aidan Boshoff and Ioan Duggan joining him in the backrow. Elis Price and Elijah Evans form a potent midfield partnership with Sion Davies at scrum-half and Harri Ford wearing number 10. In the pack Cam Tyler-Grocott, Sam Hurley and Owain James form a strong front-row with Dan Gemine and Kenzie Jenkins in the second-row. Join WalesOnline Rugby's WhatsApp Channel here to get the breaking news sent straight to your phone for free 'We've had guys in camp for three weeks working super hard and they deserve an opportunity,' said Whiffin. 'We said to the group at the start of the campaign we were going to use it as a selection game in terms of whittling the squad down from 45 down to 30 so there will be guys playing on Friday night putting their hands up for the plane ticket to Italy. 'So pressure goes onto those guys but ultimately if they can perform on Friday in a big game against England then it sets them up well for the World Cup.' Get the latest breaking Welsh rugby news stories sent straight to your inbox with our FREE daily newsletter. Sign up here. Wales U20s: Lewis Edwards (Ospreys); Ioan Duggan (Dragons), Elijah Evans (Cardiff), Elis Price (Scarlets), Aidan Boshoff (Bristol Bears); Harri Ford (Dragons), Sion Davies (Cardiff); Cam Tyler-Grocott (Cardiff), Saul Hurley (Aberavon), Owain James (Dragons), Dan Gemine (Ospreys), Kenzie Jenkins (Bristol Bears), Ryan Jones (Dragons), Caio James (Gloucester), Evan Minto (Captain - Dragons). Article continues below Replacements: Evan Wood (Pontypool), Louie Trevett (Bristol Bears), Jac Pritchard (Scarlets), Tom Cottle (Cardiff), Luke Evans (Exeter Chiefs), Deian Gwynne (Gloucester), Harry Beddall (Dragons), Logan Franklin (Dragons), Lloyd Lucas (Cardiff), Dylan Scott (Cardiff Met), Steffan Emanuel (Cardiff), Osian Darwin-Lewis (Cardiff), Jack Woods (Bath), Dylan Alford (Scarlets).
Boston Globe
4 days ago
- Health
- Boston Globe
Their children have a rare condition. They didn't know its name – until now.
The adults standing by waited to see what the two would do next. To someone watching from the outside, the interactions of five children in a D.C. park on a warm weekend afternoon would not have seemed extraordinary. But to those children's parents, every move offered insights - into what they could do now, into what they might be able to do someday. Advertisement The families recently learned they share a profound connection. They had each watched their children fail to hit the milestones others did with seeming ease. They were late to crawl and walk. Some have trouble eating and don't speak. A few have seizures. 'Global developmental delays,' the doctors call it when such lags in language, motor skills and cognition happen at the same time. Get Starting Point A guide through the most important stories of the morning, delivered Monday through Friday. Enter Email Sign Up Doctors couldn't tell them why their children were experiencing what they were experiencing, and with no diagnosis, they had no clear prognosis for their kids, or themselves. It was an excruciating mystery that hummed through years of specialist visits and brain scans that yielded no clear answers. Until last year. Thanks to a global partnership among genetics researchers and the relentless organizing of parents, the five D.C.-area families who gathered in the park - and many more who aren't yet aware of the breakthrough - now have a name for their children's condition. The rare genetic anomaly that causes it was discovered just last year, and families that once felt alone with their questions are now finding answers and one another. Advertisement Eleanor clapped when she saw the flower that day. But instead of taking hold of it, she let more than a minute pass, seeming unable to grasp it. Three-year-old Rae lay beside the two, warming herself in the sun. Her mom, Leila Levi, marveled at seeing the children together. 'You just hope,' she said, 'that the world is kind to them.' Eleanor Liu, 3, played in a D.C. park in April. Shedrick Pelt/For The Washington Post The discovery A little over a year before, a leading expert on rare diseases at the University of Oxford, Nicky Whiffin, was looking at the data in front of her and thought there was a mistake. One of her students, Yuyang Chen, had been searching through a vast British database, known as the 100,000 Genomes Project, as part of her team's effort to ferret out answers for people with undiagnosed conditions. For years, Whiffin's strategy had been to scour the less-studied regions of the genome. Out of nearly 9,000 patients with unexplained brain development disorders, Chen found that 46 of them had an identical change in their DNA, a single added letter in their 6-billion-part genetic code. 'That looks to me like it's an error in the data,' Whiffin told him. In the world of rare conditions, that was a stunningly high number of cases. Something must be wrong with the sequencing technology or their analysis tools, she thought. So they set about trying to knock down their discovery. Advertisement 'And we just couldn't disprove it,' Whiffin said. She reached out to collaborators around the world looking for confirmation, including a scientist in Boston who is part of the GREGoR Consortium, a national network of researchers working to diagnose rare disease cases. That scientist, Anne O'Donnell-Luria, sent a request to a geneticist at Children's National Hospital in D.C. for more information about patients with the same genetic change, or similar ones in nearly the same place. Seth Berger, a medical geneticist at Children's National, looked at about 300 patients. A big part of his job is helping to discover new diseases. He had never seen anything like this. 'Typically when we find a new syndrome, I'll find one in this region. And then we'll find one in like Texas, and one in Florida, and maybe a couple in Europe somewhere. And you maybe find five people around the world,' Berger said. A genetic condition known as ReNU syndrome was discovered last year, bringing answers to five D.C.-area families. Shedrick Pelt/For The Washington Post Four families were found in the Washington area alone. Whiffin published an early version of the findings in April 2024, and a final version in the journal Nature that July. The math was astounding - the implications for families even more so. She estimates that 0.4 percent of babies born with severe neurodevelopmental disorders have this newly identified genetic condition. 'Huge,' Berger said of the discovery. 'Kind of madness,' Whiffin said. It's called ReNU syndrome, a nod to the gene at issue, RNU4-2. By Whiffin's calculations, 100,000 people around the globe are living with it. Life without answers When Kathy Yang got the call last year from Children's National finally putting a name and scientific explanation to what was happening with her daughter Eleanor, she began to cry. Advertisement From the moment Eleanor was born, Yang knew something was different. The doctors told her she had nothing to worry about. But she had two other kids, and deep down, she knew. Within months, doctors confirmed what she sensed. Eleanor was diagnosed with hypotonia, which is also called 'floppy infant syndrome' and is characterized by low muscle tone. She had microcephaly, meaning her head was smaller than was typical of children her age. Yang went into an Instagram spiral, trying to understand her daughter through photos of others with disabilities. 'Is that Eleanor? Is that Eleanor?' she wondered. During evenings left alone with her thoughts, she feared it was her fault. 'I was in my head, like, 'Is it because I ate something wrong? Is it because I had that one sip of wine?' So it haunts you,' Yang said. What was facing Eleanor was not caused by, or inherited from, her parents. ReNU stems from what scientists call 'de novo' genetic variants, or changes that are 'newly arisen in the child,' Whiffin said. When Yang finally learned the cause of her daughter's condition, she cried. 'I could take away some of the guilt,' she recalled. There was much she didn't know about raising a child with a developmental disability, and there are many questions that remain, like what will Eleanor's life be as an adult? But, she said, she knows this: 'She's a joy to have in our family.' Eleanor's dad, Henry Liu, was struck watching his daughter with the other children affected by ReNU. 'They're all like twins,' he said. 'They're very good-natured. They're happy kids.' Susannah Rosenblatt played with her 5-year-old son, Sam, and his older brother, Charlie. Shedrick Pelt/For The Washington Post For eight years, Lindsay Pearse and her husband, Grant, who live in Warrenton, Virginia, tried to figure out what was happening with their son, Lars. They were in and out of the hospital, seeing specialist after specialist. They addressed Lars's 'global delays' with physical and speech therapy, a feeding tube and leg braces. But they, like the others, had not been able to dig out the cause of their child's challenges. They thought they might never know. Advertisement Then they got a call early last year. Lars - like Adeline, Eleanor and Rae - had been enrolled in a research project with Berger at Children's National. Their DNA had provided vital pieces of evidence in Whiffin's global study. For families, it's been like they've somehow been given access to a time machine. Beyond the kinship and camaraderie of finding families who have gone through what they have, they now have a view into the opportunities and dangers coming years or decades down the line. Lars had his first seizure when he was 2. They were sporadic at first, but in the last year they've ramped up, which had worried his parents. Now, the family is part of a community that includes parents of teenagers and young adults with ReNU syndrome who saw the same pattern in their kids and shared their experiences. From them, the family also learned that weak bones could emerge as a problem, better preparing them to try to address it. The rush of practical information has pared back a sense of helplessness - and injected new energy and hope for many. Pearse has used the fear and frustration of her family's experience to fuel efforts to organize, helping found a patient advocacy group last fall, ReNU Syndrome United. The group, at its first conference in July, is developing a global road map, ranging from fundraising to coordination with researchers and companies, for finding therapeutics that could help people with ReNU. Advertisement 'What we've learned from the scientific community is it's very targetable,' Pearse said, adding that their sights are on a 'bullish' five-year timeline to try to find treatments. Many questions remain about what parts of the condition might be preventable or reversible. For example, a gene therapy breakthrough might address Lars's troubles expressing himself through language, which she finds heartbreaking. That would be a relief as a parent, she said, and yet, 'I also very much personally believe that Lars is perfect as he is.' Whiffin said with new genetic therapies, including tools to edit DNA and target crucial proteins, ReNU could end up being 'one of the fastest discoveries of a disorder to getting a treatment.' But there are many caveats, leaving her with 'tempered hope.' Researchers must learn more about the basic biology of ReNU, which affects a complex process within cells called splicing, to know if a therapy will be safe and effective, Whiffin said. Since ReNU is a disorder of development, a child might need treatment very early on to make a difference, she said. Yet sometimes that's not needed. ReNU is drawing crucial interest from drug companies, as well as other researchers, she said, because so many people are affected. Turns out, their island wasn't deserted after all, Pearse said. Vast numbers of families are still out there. 'We'd love to find them,' she said. Finding one another Four of the families had met before the recent park gathering. They called themselves Team Real - for Rae, Eleanor, Addie and Lars. A fifth Washington-area child, Sam, joined them for the first time that Sunday. His family just learned his diagnosis in April, thanks to a network of eagle-eyed moms - including Rae's - and a rapid-fire series of connections. 'Our sweet girl was diagnosed with a newly discovered genetic mutation last year,' Rae's mother, Leila Levi, of Bethesda, Maryland, wrote in a Facebook post on April 3. She's normally guarded about exposing her family's business on social media but wanted to share information about ReNU and a fundraising page for the D.C. families. Levi's law school classmate saw the post, thought the symptoms sounded familiar and told her friend, Sam's mom, Susannah Rosenblatt, who contacted Berger. He asked for Sam's raw data from previous genetic testing and easily pinpointed the added letter that Whiffin's team had identified. When Sam, 5, rolled up to the park in jeans and a blue fleece, Adeline took an interest. She's social, which her parents credit partly to her twin brother Oliver, who has pushed her from the start. At school, she tries to take care of other kids, and is particularly drawn to those with special needs. At home, she sets out lunch boxes for her dolls, mothering them. She'd never met Sam before. That day, she reached for a colorful pop-it toy he was holding. Then she tried to borrow a tablet Sam uses to communicate, since he makes sounds and gestures but does not speak. 'Addie, see that's his,' her mom said. 'Does she like your toy? So you need to hug mommy about it?' his mom said. 'He's really good with the talker,' Eleanor's mom said. 'That's amazing.' He had pushed a button generating the message: 'My name is Sam.' The gathering sometimes appeared too much for Sam, who as his mom held him, began tugging at her hair, a coping mechanism she hopes to help him grow out of - and a scene familiar to some of the other parents there. That's something Lars does too sometimes, when he can't communicate what he wants or needs, his mother explained. 'Nobody was bothered,' Rosenblatt said later, describing her relief. 'There was no awkwardness or judgment if your child's acting in an unexpected way, because they can totally understand and relate.'
South Wales Argus
23-05-2025
- Sport
- South Wales Argus
Wales to face England in Pontypool ahead of U20 Championship
Richard Whiffin's side will aim to repeat their stunning Six Nations win against England when they play a friendly at the home of Pooler on Friday, June 6 (kick-off 3.30pm). The head coach will name his final 30-man squad for the tournament after that clash before a second friendly against Italy at Cardiff Arms Park on June 13. Whiffin said: 'Our preparation is going to be important and those two games against England and Italy will give us a great indication of where we are. 'We're playing against the world champions in one prep and it'll be a tough game against Italy as well. 'We're going to use the England game as a selection tool and that will drop us down to our 30-player squad for the World Cup, then the Italy game will be our last opportunity to prepare before we get out to Italy for the tournament and face Argentina.' CONTENDER: Dragons fly-half Harri Ford, who played for Pontypool in SRC, is pushing for Wales U20 selection (Image: Kian Abdullah/Huw Evans Agency) Wales also face France and Spain in the group stages with the competition running from June 29 to July 19. Eleven Dragons have been named in a 45-strong training squad - flanker Harry Beddall, a summer signing from Leicester, lock Nick Thomas, props Owain James and George Tuckley, back rowers Ryan Jones, Evan Minto and Cerrig Smith, scrum-half Logan Franklin, fly-half Harri Ford and wings Harry Rees-Weldon and Ioan Duggan. Beddall, Thomas, James, Minto, Franklin, Ford and Rees-Weldon featured in the Six Nations and are in good shape to make the final cut. However, Whiffin has included some younger talent and has warned players they must be at their best. 'The next few weeks are going to be really important for the boys. We've put a big focus on our individual skills and individual development,' he said. 'They'll be working incredibly hard physically and we've set a mantra for the boys to improve the individual, improve the team. 'We want everyone to come out of this development block, be it whether they get on the plane or not, a better player.' Entry for the fixture in Pontypool will cost £5 for adults and is free for under-16s, with tickets available on the gate.
Wales Online
21-05-2025
- Sport
- Wales Online
Wales just picked a 17-year-old schoolboy for the U20s because he's so good
Wales just picked a 17-year-old schoolboy for the U20s because he's so good Carwyn Leggatt-Jones has been promoted from the U18s ahead of Wales U20s' World Rugby Championship this summer Carwyn Leggatt-Jones kicks a drop-goal for Llandovery College (Image: Kian Abdullah/Huw Evans Agency ) Talented youngster Carwyn Leggatt-Jones has been included in a 45-man training squad ahead of Wales U20s' World Rugby Championship campaign later this summer. The Scarlets fly-half was playing for Wales U18s in April, having first played at that level while at the age of 16. He will now spend the coming weeks training with Richard Whiffin's squad as he tries to force his way into the 30-man group for the tournament in Italy. Sign up to Inside Welsh rugby on Substack to get exclusive news stories and insight from behind the scenes in Welsh rugby. The highly-rated fly-half has played a key part in Llandovery College's back-to-back WSC titles in the last two years - putting in player of the match performances in both finals at the Principality Stadium - while he was also named in the team of the tournament following this year's U18s Six Nations Festival in France. Another of the three Welshmen named in that team, U18s captain Cerrig Smith, is also included in Whiffin's wider training squad - which are due to meet up to begin training this month. There's no place for Morgan Morse, after the Ospreys No. 8 also missed out on Wales' senior tour to Japan in July. 'This 45-man training squad is a mixture of guys that did really well during the Six Nations for us and then the U18s and U19s had a really good block post Six Nations – the U18s went and won all three games out in Vichy and there's a number of those guys that stepped up," said Whiffin. Article continues below 'You also have the culmination of Super Rygbi Cymru - there's boys that have been putting their hand up in the last few weeks in that competition and it gives us an opportunity to put a bit of pressure on the guys that had the jersey in the Six Nations and also prepare for what guys might step up next year. 'The next few weeks are going to be really important for the boys. We've put a big focus on our individual skills and individual development. 'They'll be working incredibly hard physically and we've set a mantra for the boys to improve the individual, improve the team. 'We want everyone to come out of this development block, be it whether they get on the plane or not a better player. So there'll be some tough work for them and it'll be fun. But there will be a big focus on being better players at the end of it." As well as naming the wider squad, Wales also confirmed they will take on England in Pontypool in June to warm up for the tournament. Having defeated the current world champions on a memorable night at the Arms Park during the Six Nations, they will face them again at Pontypool Park on Friday June 6. The following week, they will take on Italy at the Arms Park to continue their preparations for the tournament. On the two preparation matches Whiffin added: 'Our prep's going to be important and those two games against England and Italy will give us a great indication of where we are. We're playing against the world champions in one prep and it'll be a tough game against Italy as well. 'We're going to use the England game as a selection tool and that will drop us down to our 30 player squad for the World Cup and then the Italy game will be our last opportunity to prepare before we get out to Italy for the tournament and face Argentina.' Article continues below Wales will face Argentina, France and Spain in their pool matches in the tournament, which runs from June 29 to July 19. Wales training squad for 2025 World Rugby U20 Championship Forwards (25): Dylan Alford (Scarlets /RGC), Harry Beddall (Dragons RFC), Jake Bowen (Scarlets), Tom Cottle (RGC), Ioan Emanuel (Bath Rugby), Keanu Evans (Scarlets), Luke Evans (Exeter Chiefs), Will Evans (Scarlets), Dan Gemine (Ospreys), Deian Gwynne (Gloucester Rugby), Saul Hurley (Aberavon), Caio James (Gloucester Rugby), Owain James (Dragons RFC), Kenzie Jenkins (Bristol Bears), Ryan Jones (Dragons RFC), Evan Minto (Dragons RFC), Jac Pritchard (Scarlets), Sam Scott (Bristol Bears), Cerrig Smith (Dragons RFC), Harry Thomas (Scarlets), Nick Thomas (Dragons RFC), Louie Trevett (Bristol Bears), George Tuckley (Dragons RFC), Cameron Tyler-Grocott (Cardiff Rugby), Evan Wood (Pontypool / Cardiff Met) Backs (20): Aidan Boshoff (Bristol Bears), Tom Bowen (Cardiff Rugby), Rhys Cummings (Cardiff Rugby), Osian Darwin-Lewis (Cardiff Rugby), Sion Davies (Cardiff Rugby), Ioan Duggan (Dragons RFC), Lewis Edwards (Ospreys), Steff Emanuel (Cardiff Rugby), Elijah Evans (Cardiff Rugby), Harri Ford (Dragons RFC), Logan Franklin (Dragons RFC), Carwyn Leggatt-Jones (Scarlets) Ellis Lewis (Neath), Lloyd Lucas (Cardiff Rugby), Elis Price (Scarlets), Harry Rees-Weldon (Dragons RFC), Osian Roberts (Sale Sharks), Dylan Scott (Cardiff MET), Harri Wilde (Cardiff Rugby), Jack Woods (Bath Rugby)
Yahoo
29-04-2025
- Yahoo
Jennifer McCabe takes the stand in Karen Read Retrial, recounts morning O'Keefe's body was found
Jennifer McCabe, one of the last people to see John O'Keefe alive, took the stand in Karen Read's Murder Retrial on Tuesday McCabe infamously Googled 'hos long to die in cold,' on the morning of O'Keefe's death but was not questioned on the search Tuesday. Instead, McCabe was asked about the discovery of O'Keefe's body and the preceding events. McCabe described conversations she had with Read on the morning of January 29, 2022. ''Jen! Jen!' And then she's screaming that John didn't come home,' McCabe recounted. 'She started saying, 'Could I have hit him? Did I hit him?'' 'She also informed me that she had cracked her taillight,' McCabe continued. A short time later, McCabe traveled with Read to 34 fairview road and found O'Keefe's body there in the snow. 'I was frozen, I was shocked, I couldn't believe that was him just lying there,' McCabe detailed. 'I just remember when I was doing the compressions, it just. I don't really know how to explain it. It just felt very funny.' McCabe had been at 34 Fairview the night before. She says Read and O'Keefe were also invited to a get-together there. She saw Read's Lexus pull up but she says neither she nor O'Keefe ever came in. McCabe told special prosecutor Hank Brennan that O'Keefe never texted her during the time in question. 'I have nothing to say to Jen McCabe. I would say the dash cam and the 911 calls speak for themselves,' Read said outside court after testimony wrapped. 'If you want to know what the scene was like, just watch the video. Don't take anyone's word for it. Watch the video.' Even though McCabe wasn't asked about it Tuesday, the jury is aware of her 'hos long to die in the cold?' Google search. Digital forensics expert Ian Whiffin, a product manager at digital forensics firm Cellbrite, testified for the prosecution before McCabe. On Monday, Whiffin told the jury that John O'Keefe's phone data reveals he never entered 34 Fairview Road but the defense challenged that opinion Tuesday, pressing him on the accuracy of the information. Robert Alessi asked Whiffin about a report he authored that shows O'Keefe's phone traveled 36 steps or around 84 feet. 'According to your report, the phone of John O'Keefe could be in the house, correct?' Alessi asked. 'Based on the low accuracy information? Yes,' Whiffin responded. 'The answer is yes,' Alessi said. 'Yes,' Whiffin conceded. 'You did not include that depiction in your timeline that you discussed with the jury yesterday, did you?' Whiffin continued. 'I did not, no,' Whiffin said. Special prosecutor Brennan fired back and suggested the defense is cherry-picking sections of Whiffin's report to distort the findings. Karen Read's lawyers have said that McCabe's search happened hours before O'Keefe was discovered, which could implicate her rather than Read. McCabe has said she made the search later at Read's insistence after they found O'Keefe. Whiffin also told the jury that the search happened after John O'Keefe's body was found. Jennifer McCabe will be back on the stand on Wednesday. Download the FREE Boston 25 News app for breaking news alerts. Follow Boston 25 News on Facebook and Twitter. | Watch Boston 25 News NOW
