Powerful new tool may enable opportunities for biological understanding, clinical interventions “In my clinical practice, I often encounter families devastated by a sudden and unexpected death. This finding indicates that genetic testing — if made widely available — can provide a way to identify high-risk individuals currently flying under the radar. If identified, we have a variety of approaches proven to prevent disease onset available within routine clinical practice,” said Khera.In addition to Khera, the research team was co-led by Sekar Kathiresan, CEO of Verve Therapeutics; Anthony Philippakis, cardiologist and chief data officer at the Broad Institute; and Christine Albert, chair of cardiology in the Smidt Heart Institute at Cedars-Sinai. Genome editing with precision Each year, sudden cardiac death affects 220,000 U.S. adults, most of whom have no prior symptoms of a heart issue.By identifying rare DNA variants that substantially increase risk of sudden cardiac death, researchers led by investigators at Massachusetts General Hospital (MGH) and the Broad Institute of MIT and Harvard have laid the foundation for efforts to identify individuals who could benefit from prevention strategies before they experience symptoms.The scientists also determined that such variants are present in approximately 1 percent of asymptomatic adults — corresponding to 3 million people in the United States.The findings are presented at the Scientific Sessions of the American Heart Association and published in the Journal of the American College of Cardiology.The authors performed gene sequencing in 600 adult-onset sudden cardiac death cases and 600 controls who remained healthy — the largest such study performed to date and first to use a control group. A clinical geneticist reviewed all of the DNA variants identified, classifying 15 as clinically important pathogenic variants.“Strikingly, all 15 of these pathogenic variants were in sudden cardiac death cases, with none in controls,” said lead author Amit V. Khera, cardiologist and associate director of the Precision Medicine Unit at MGH’s Center for Genomic Medicine and the Broad Institute’s Cardiovascular Disease Initiative. The prevalence of a pathogenic variant was found to be 2.5 percent in cases and 0 percent in controls.Next, the investigators studied the genes of 4,525 middle-aged adults without any signs of heart disease, finding that 41 (0.9 percent) carried a pathogenic variant. These individuals have been followed for more than 14 years, and those who inherited a pathogenic variant had a more than three times greater risk of dying from cardiovascular causes. “Our hope is to empower our patients to better understand, predict, and prevent bad health outcomes — especially irreversible tragedies such as sudden cardiac death — using genetic information.” — Amit V. Khera Calculating genetic risk for obesity Prime editing system offers wide range of versatility in human cells, correcting disease-causing genetic variations Related Based on these results, Khera and colleagues plan to conduct genetic-sequencing tests for thousands of adult patients at MGH and affiliated hospitals who volunteered for a research program designed to understand how genetic and environmental factors impact risk of important diseases. They aim to find the 1 percent of individuals with rare genetic variants linked to heart disease, and offer tailored prevention programs in a Cardiovascular Genetics Program or a new MGH Preventive Genomics Clinic that Khera is co-leading and is embedded within primary care.“Our hope is to empower our patients to better understand, predict, and prevent bad health outcomes — especially irreversible tragedies such as sudden cardiac death — using genetic information,” said Khera.Funding support was provided by an institutional grant from the Broad Institute of MIT and Harvard (BroadIgnite, to Khera), grant 1K08HG010155 from the National Human Genome Research Institute (to Khera), a Hassenfeld Scholar Award from Massachusetts General Hospital (to Khera), an institutional grant from the Broad Institute of MIT and Harvard (BroadNext10, to Philippakis and Kathiresan), and a sponsored research agreement from IBM Research (to Khera and Philippakis).
Chief executive David McNally has suggested Norwich could move swiftly to replace Chris Hughton if their Premier League status is threatened. In a congested bottom half of the table, the Canaries are two places and one point above Sunderland, who occupy the final place in the relegation zone but have a game in hand. The Canaries are the only side in the bottom six not to have changed manager this season. Press Association “It would be almost delinquent of the football club to not be aware of potential candidates if for any reason your manager left,” McNally told the Eastern Daily Press. “If results are not good enough you have to be aware of who is out there to help. You look at the market and who might be right for Norwich City. “If we needed to make a change – and the average tenure of a Premier League manager is about a year and a half, which puts Chris in the top six or top eight longest serving right now – then if a change was necessary it wouldn’t be a case of, who are the contenders? It would be a case of reviewing what is required, where are we going and who is best placed to take the club forward.” The bottom 11 teams are separated by eight points with 12 games to go and the Canaries are three points behind 10th-placed Swansea and West Ham, in 11th, whose recent revival has taken them clear of the drop zone. “If we believe Chris is the right man to take the club forward then we stick with that,” McNally added. “It is fine margins in our sport and what you have to be sure of is a guaranteed improvement.”
It sealed a comfortable win for Everton and Martinez believes Lukaku, who scored 16 goals on loan at Goodison Park last season, can be a steal. “He is only a young man and I’m sure money can be spent in many ways but I didn’t mind the sum because he was money well spent,” he said. “When you bring a player into the club it’s always a gamble but in this case it wasn’t at all because we had the advantage of working with Rom over last season. “For us it was very important to keep him. I felt he developed a homely feeling, his relationship with the fans is quite unique and he is everything you expect in a striker. He is young, wants to win, he works extremely hard and he has everything.” It was Everton’s first win of the season and Martinez felt it was deserved, although he offered support to opposite number Alan Irvine. He said: “We scored at the right times and created chances. West Brom were fantastic though and they are in transition and trying to bed some players in. They play with a lot of energy but I felt we never looked like conceding until the last minute.” Irvine has been unable to play most of his summer signings after they arrived late in pre-season, with Joleon Lescott still out after a knee injury. He gave debuts to substitutes Sebastian Blanco and Georgios Samaras but the Baggies were jeered off after their third blank in a row. The Toffees’ record buy scored inside two minutes at The Hawthorns for his first goal since making his loan move from Chelsea permanent. He curled in from the edge of the box after Jonas Olsson’s poor clearance before Kevin Mirallas added a second thanks to Ben Foster’s mistake. Boss Roberto Martinez branded Romelu Lukaku a £28million bargain after he fired Everton to a 2-0 win at West Brom. And Irvine knows, despite being a work in progress, they need results. He said: “It needs to be as quick as possible, we are not in that pre-season period we would like to have been in when we were trying to build the team. We’re in the season and it’s important to get good results. “What I would say is that the players are working extremely hard to get there. We are seeing some good things but some mistakes are very costly for us. “Jonas and Ben are experienced Premier League players and don’t usually make those mistakes. “These lads are generally very consistent and they are devastated about the goals. Mistakes happen and we have to accept that and move on.” Press Association
Kano-based Adolescent Health and Information Programme, (AHIP) Basketball Club, yesterday defeated First Deepwater Basketball Club of Lagos 56-53 in one of the Zenith Bank Women Basketball League games in Asaba.AHIP’s victory was the high point of the matches decided on Tuesday.Other teams that also won in the second phase of the league include; IGP Queens who defeated Taraba Hurricanes 61-22 while GT 2000 also snatched a 38-39 victory against Customs. Zamfara Babes lost to immigration 36-44 while Benue Princess defeated Plateau Rock.Speaking after his team’s victory against First Deepwater, Coach of AHIP, Wilson Idanwenkai, told reporters that his girls had a good game.He commended his players for sticking to the game plan even in the face of biased officiating from the referees. “We had a nice game against First Deepwater and it was good that it ended in our favour. However, the referees looked like they were acting out a script and it is a bad development. It seems some of the teams are desperate to qualify for the Final Eight. This perhaps is the reason for the desperation to win at all costs. This is the cause of the rivalry that is becoming unhealthy among teams,” reasoned the AHIP coach.Despite his team’s good showing in the second phase of the Zenith Bank Women’s League so far, Idanwenkai insisted that AHIP is not desperate to play in the Final-Eight in Lagos.“What my organisation is concerned about is to develop players that will become top players in future. We are not in the league to win-at-all-cost, but add glamour to it by training players to become stars. We don’t want to be part of any group that is desperate for laurels,” stressed the coach.He buttressed his position by pointing out that over 70 per cent of the players playing in the league came from AHIP basketball programmes.“I must say that the standard of the league has improved. The teams are more balanced and churning out good performances, which is good for the overall improvement of the women’s game. I enjoin all the teams to contribute their quota to the rise of basketball in the country.Idanwenkai however admitted that there are no small teams in the league anymore.With yesterday’s victory, AHIP has now won four games this season. Its next game in the series is against GT 2000 tomorrow evening.Share this:FacebookRedditTwitterPrintPinterestEmailWhatsAppSkypeLinkedInTumblrPocketTelegram