DNA testing could save young lives through early intervention

first_img Wyss Institute researchers are inventing new ways to fight the deadly disease The algorithm will see you now A few months ago, Lisa Diller saw a family for a consultation in her cancer clinic. Their story is one of tragedy, and of hope.The mother had an eye removed out of medical necessity at the age of 2, but knew little about the details of her condition. Years later, her 2-year-old son developed a rare and aggressive form of cancer — retinoblastoma — that involves the uncontrolled growth of immature cells in the retina. By the age of 5 he was blind. The devastating disease in mother and son was caused by a genetic mutation in the RB1 tumor suppressor gene that, when unaffected, maintains normal cell division. The information proved invaluable for the family’s second child, whose blood DNA test revealed she too was a carrier of the malformed gene. Armed with that knowledge, doctors examined her eyes more regularly and treated her with laser therapy when small tumors appeared. Today she is 4 and has perfect vision.“The test saved her sight because the doctors knew her DNA put her at risk and they were able to intervene,” said Diller, a pediatric oncologist, professor of pediatrics at Harvard Medical School, and the Lillian Gollay Knafel Fellow at the Radcliffe Institute for Advanced Study. “That’s the power of genetics. If we had known that their son carried that mutation, he might be able to see.”Genetic tests that could help save a child’s eyesight or even life are the focus of Diller’s Radcliffe work. During her fellowship she is studying the implications of genetic testing in newborns, and planning research that focuses on testing babies for gene changes associated with cancers known to strike the very young, including retinoblastoma. “If we are going to use the genetic revolution to do something good,” said Diller, “it seems this is truly worth doing.”Testing newborns’ blood for signs of disease is not new. For years doctors have screened babies for certain conditions that, if detected early, can be reversed or managed to avoid severe consequences. Newborns are typically tested for more than two dozen rare diseases, using biochemical tests that look for missing proteins or a buildup of byproducts when a certain pathway is malfunctioning, said Diller. But “they are not, generally speaking, direct DNA tests,” she added. “Genetic testing is relatively new and we are still learning how to use this testing to improve health. For cancer, it’s a predictor. It doesn’t tell you that you have cancer, it tells you that you might develop cancer.” “If we are going to use the genetic revolution to do something good, it seems this is truly worth doing.” — Lisa Diller “Your genes aren’t genies that can predict the future,” said Diller. “They can only tell you what your risk is in comparison to others who don’t have genetic mutation.”To help participants better understand that risk, Diller and her collaborators plan to include detailed questionnaires that will ask parents why they do or don’t agree to participate in the study, if they understand what the research is trying to probe, and how they would feel about knowing about certain risks related to their child’s well-being. “We want to do this in a way that’s respectful to the participants,” she said, “and that eventually benefits the public health.”Respecting her patients is paramount to Diller, who chose to become a pediatric cancer doctor because the children “keep you optimistic,” and the parents who “rise to the occasion when it comes to their sick children are inspiring.” Above all she said she likes developing a “highly trusting relationship” with mothers and fathers coping with critically ill children.“I like communicating with them what the choices are,” said Diller, “and being reassuring and honest all at the same time.” But for many, knowing about that risk can be unsettling. As anyone with a family history of cancer knows, facing and understanding one’s own frank numerical likelihood of the disease can be daunting. Adults regularly struggle when deciding whether to find out if they carry changes to certain chromosomes or genes that could increase their cancer risk, in part because of the anxiety the knowledge can trigger.And when it comes to their children, many parents simply aren’t interested in the research.BabySeq, a National Institutes of Health-funded project launched in 2015 and led by researchers at Brigham and Women’s Hospital and Boston Children’s Hospital, asked parents to take part in a study that would sequence more than 900 genes in healthy newborns. The goal was to arm parents with useful information that could help them consider future early medical interventions for their children if needed. But of the 3,860 eligible families identified, only 268 opted in. The report concluded that “low interest in research and study logistics were major initial barriers to postpartum enrollment and are likely generic to many postpartum research efforts.”Diller suspects some parents were skeptical of “testing for everything because there might be something,” she said. She hopes her planned study will allay some of those concerns by focusing on a small number of cancer-risk genes. It will also try to address the complicated relationship many people have with risk.center_img Related Symposium examines promise, hype of artificial intelligence in health care Harnessing nature to beat cancerlast_img read more

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Tickets Now On Sale for Branden Jacob-Jenkins’ Appropriate

first_img View Comments The estranged members of the Lafayette clan have returned to Arkansas and their crumbling old plantation home to settle the accounts of their recently deceased patriarch. As they sort through a lifetime of hoarded mementos and junk, the discovery of a gruesome relic and a surprise visitor send the family into a spiral of crackling confrontations, repressed histories, and regret. Appropriate Scenic and costume design is by Clint Ramos, lighting design is by Lap Chi Chu, original music and sound design is by Broken Chord and projection design is by Aaron Rhyne & Rick Sordelet. The cast includes Maddie Corman (Love, Loss, and What I Wore) as Rachael, Patch Darragh (Kin) as Franz, Tony nominee Johanna Day (Proof) as Toni, Alex Dreier (The Assembled Parties) as Ainsley, Mike Faist (Newsies: The Musical) as Rhys, Izzy Hanson-Johnston (Billy Elliot: The Musical) as Cassidy, Sonya Harum (Blue Bloods) as River, and Michael Laurence (The Morini Strad) as Bo.center_img Tickets are now available for the New York premiere production of Branden Jacobs-Jenkins’ Appropriate. Directed by Liesel Tommy, the off-Broadway play will run February 25 through April 6. Opening night is set for March 16 at The Alice Griffin Jewel Box Theatre at The Pershing Square Signature Center.  Show Closed This production ended its run on April 13, 2014 Related Showslast_img read more

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Odds & Ends: Leighton Meester’s ‘Not a Tart’ & More

first_imgHere’s a quick roundup of stories you may have missed today. Star Files Broadway Vet to Sing Whitney Houston’s Vocals in Biopic Broadway alum Deborah Cox (Aida, Jekyll & Hyde) will provide Whitney Houston’s singing voice in an upcoming biopic of the late superstar. According to E! Online, the Lifetime movie will be directed by Angela Bassett and center on Houston’s relationship with Bobby Brown. Darren Criss & Chloe Grace Moretz Get Animated Speaking of vocal talent, Glee’s Darren Criss, along with Great White Way vets Beau Bridges, Oliver Platt, Lucy Liu and Mary Steenburgen, will voice characters in the upcoming animated film The Tale Of The Princess Kaguya. Deadline reports that recent off-Broadway alum Chloe Grace Moretz has signed on to play the title role. Kristin Chenoweth & John Lithgow Join Forces for Star-Spangled Spectacular Concert Tony winners Kristin Chenoweth and John Lithgow have joined the lineup for Baltimore’s Star-Spangled Spectacular concert on September 13. The celebration of the bicentennial of the U.S.’s national anthem will be televised live on PBS as part of the network’s Great Performances series. Kristin Chenowethcenter_img John Lithgow ‘I’m Not a Tart:’ Of Mice and Men’s Leighton Meester Pens Feminist Essay Leighton Meester has penned a feminist essay about her character in John Steinbeck’s Of Mice and Men. “The insults are thrown at Curley’s wife: bitch, tramp, tart,” she writes in The Huffington Post, before examining the reasons why. Catch the show at Broadway’s Longacre Theatre before it closes on July 27. View Comments Leighton Meesterlast_img read more

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Upcoming TV Special Will Explore Disney’s Broadway Magic

first_img View Comments The special will feature musical performances from The Lion King and Aida composer Elton John, Nashville’s Sam Palladio and Clare Bowen, original Broadway Mary Poppins headliner Ashley Brown and Aladdin’s Adam Jacobs. The program will also give viewers a deeper perspective on three Disney tuners lighting up Broadway and cities across the country, including a backstage view of “Friend Like Me” during an actual performance of Aladdin, a peek into an ensemble rehearsal for The Lion King and a visit with the national tour of Newsies prior to their opening night.center_img Disney’s stage magic is heading to the small screen! On December 14, ABC will air Backstage with Disney on Broadway: Celebrating 20 Years, a one-hour special exploring the making of their eight Great White Way ventures. You’ll be able to revisit Disney’s classics, from current Broadway hits The Lion King and Aladdin and the national tour of Newsies to shows of Mickey’s past: Beauty and the Beast, Aida, Tarzan, The Little Mermaid and Mary Poppins. Broadway alum and Modern Family star Jesse Tyler Ferguson will host.last_img read more

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3 tax moves you should make before the end of the year

first_img 52SHARESShareShareSharePrintMailGooglePinterestDiggRedditStumbleuponDeliciousBufferTumblr,John Pettit John Pettit is the Managing Editor for CUInsight.com. John manages the content on the site, including current news, editorial, press releases, jobs and events. He keeps the credit union … Web: www.cuinsight.com Details Whether it’s keeping tabs on holiday spending or thinking about our 2018 tax return, we all tend to be hyper-focused on our finances at this time of year. Here are three tax moves you should make now to prepare for 2019…Be charitable: When purchasing Christmas gifts this year, don’t forget your favorite non-profits and charities. A sizable donation will be a nice deduction to your tax bill. Plus, you’ll be able to help out your favorite charity at Christmas time, and that’ll make you feel good.Max out your retirement: Maxing out your IRA or 401k is a great idea for two reasons. First, you’re boosting your nest egg, which will make you very happy when it comes time to retire. The second reason is that you’re lowering your amount of taxable income, and that will save money on taxes this year.Know your FSA rules: Under the current rules for flexible spending accounts, you won’t necessarily lose your FSA balance at the end of the year. But, it’s important you know the rules for your company’s FSA plan. You may have one of two options with your FSA: A “roll over” of up to $500 into the next year’s account or a 2.5 month grace period. Find out if your company provides one of these two deadline extensions before it’s too late.last_img read more

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National service

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Angkasa Pura II cuts capex to Rp 1.4 trillion, 20 percent of initial plan

first_imgState-owned airport operator PT Angkasa Pura II, which manages most airports in the western part of Indonesia, has reduced its capital expenditure this year to Rp 1.4 trillion (US$92.8 million), which is less than 20 percent of the initially earmarked Rp 7.8 trillion.President director Muhammad Awaluddin said capex, which would be mostly financed with internal funds, would focus on several airport development projects and airport facility and security system improvement.“Several multilayer development projects are still ongoing this year, for example, the construction of the commercial area, offices and hotels that are integrated with the Soekarno-Hatta Airport building. “The work on a design plan for Soekarno-Hatta’s Terminal 4 will also be continued this year and it is set to be completed in 2021, with the groundbreaking [ceremony to be held] in January 2022,” said Awaluddin on a statement released on Tuesday. The company’s director of engineering, Agus Wialdi, said Angkasa Pura II had made a significant cut to its budget following the sharp drop in aircraft and passenger traffic at its airports due to the pandemic, which has taken a toll on the operator’s revenue.“Cutting costs is one of our main measures to cope with the impact of COVID-19. Operations at Angkasa Pura II’s airports have been significantly reduced as we are adjusting to the passengers and aircraft traffic,” said Agus.Cost-cutting measures include suspending the Soekarno-Hatta Skytrain service, cutting electricity use by 46 percent and slashing water use by 60 percent at Angkasa Pura II airports across Indonesia.Agkasa Pura II manages 19 airports in western parts of Indonesia, including Kualanamu International Airport in Medan, Halim Perdanakusuma Airport in Jakarta, Depati Amir in Bangka Belitung Islands, Supadio in Pontianak, Radin Inten II International Airport in Bandar Lampung and Sultan Mahmud Badaruddin II in Palembang, among others.Topics :last_img read more

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KLP backs Rwanda with solar investment

first_imgNorway’s largest pension fund manager KLP has funded the construction of a solar farm in Rwanda, its first investment in the east African state.The project, located to the east of the nation’s capital Kigali, is the first utility-scale, grid-connected commercial solar park in east Africa, costing $23.7m (€20.3m)KLP part-funded the project through KLP Norfund Investments (KNI), a vehicle jointly owned by Norfund, the Norwegian government’s investment fund for developing countries. KNI was set up in 2013, in KLP’s case to increase its impact investments.KNI is a majority owner of the park through its partnership with Scatec Solar, an integrated independent solar power producer which will oversee its operation. KNI owns 24% of the equity, Norfund 12.8% and Scatec Solar 43.2%, while the developers Gigawatt Global own 20%. Further funding has come via debt and grants from international development agencies.Eli Bleie Munkelien, vice president, corporate responsibility and corporate governance, KLP, said: “We see energy as key to development, and renewable energy equally essential for a sustainable development.“Our co-investment with Norfund is commercially based, but with the aim on giving returns on a social and environmental level, as well as the financial dimension.”By end-2014 KLP had invested NOK200m (€21.9m) in four renewable energy projects, the largest being the Lake Turkana wind project in Kenya, as well as solar parks in South Africa and Honduras.Another NOK300m had also been allocated – NOK150m through NorFinance in bank and finance projects, so far in Kenya, Uganda and Mozambique, while the remaining NOK150m is awaiting allocation in new investment opportunities through KNI.Last December, a further NOK500m was committed to investments in renewable energy, though it has not yet been allocated. KLP is currently looking into the different possibilities with regard to the preferred type of impact, partnerships and models.KLP has also invested NOK97m in the Norwegian Microfinance Initiative which funds microfinance institutions in developing countries through equity, loans and guarantees intended to provide an attractive financial return as well as development results.All these investments are defined by KLP as impact investments.Munkelien said: “We use three tools to ensure KLP’s responsible investments: exclusion; active ownership, or dialogue; and investment for sustainable development.“The last of these is what most people consider to be impact investing, though we have a broader definition.”She added: “Given KLP’s investment model, which emphasises index tracking management, KLP seeks partners to put this mandate into operation.”There is no target allocation for impact investment. But sustainable developments in developing economies form an important part of the renewable energy asset class.However, Munkelien said: “There is a target return for impact investments, which vary from project to project. However, they are measured in environmental and social impact as well as financial returns. It is however too early to report on financial returns as they are long-term investments.”KLP’s investment portfolio is worth NOK368bn, with KLP Group’s total assets standing at NOK470bn.For more on impact investing, see IPE’s recent coveragelast_img read more

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Study: ‘Shortlists’ influence pension funds’ asset manager expectations

first_imgHowever, they added: “Asset managers frequently short-listed [sic] by investment consultants are perceived as more likely to outperform other asset managers.”The paper builds on 2013 research by Jones and Martinez that found no evidence of recommendations by consultants adding value to pension funds, with the current paper examining the motivation of asset owners for nevertheless accepting the recommendation.The paper found that pension funds were “ignoring the wealth of evidence” that showed there was no direct link between an asset managers’ past performance and its ability to generate future returns.Despite this, it also found that past performance was a “much more important driver of flows” than any future return expectations.The authors argued that the most likely explanation for such behaviour was that the fiduciaries involved in any decision-making were opting to use the “most observable and verifiable” data available to them, even if the fiduciaries believe they know better.“Trustees may attach unwarranted weight to this tangible piece of information (or non-information) simply because it is observable by the people they are appointed by or answerable to,” they said.Furthermore, decisions to appoint future managers were also based on service factors – such as a company’s use of informal meetings or hiring a relationship manager perceived as capable.“This is perhaps because service factors are read by institutional investors as being informative about general business practices of the asset manager, which might also be reflected in expected future performance,” the paper said.,WebsitesWe are not responsible for the content of external sitesLink to paper ‘Institutional Investor Expectations, Manager Performance, and Fund Flows’ Pension funds have higher return expectations of asset managers frequently shortlisted by consultancies, research by Saïd Business School has found.The research, conducted jointly by the University of Connecticut and the University of Oxford-based business school, found that past performance and soft investment factors also influenced asset owners’ decisions to award new mandates, despite scant evidence of their ability to predict future performance.The study, examining 13 years of US equity performance data, found that past performance was only indicative of future returns over “very short” periods.“Consultants’ recommendations, once aggregated at the manager level, also seem largely unrelated to performance,” authors Howard Jones and Jose Vincente Martinez found.last_img read more

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Home with bowling alley hits the market in Stafford

first_imgThe den of the year belongs to 94 Minimine St, Stafford.A NIGHT out with 10 mates, playing tenpin bowling followed by a Gold Class movie is a two suburb, 5km trek for most residents of Stafford but not if you live at 94 Minimine St. More from newsParks and wildlife the new lust-haves post coronavirus13 hours agoNoosa’s best beachfront penthouse is about to hit the market13 hours agoThe fun zone is hidden underneath this level.The property has a separate guest wing with kitchenette and lounge room, private decks, and an undercover patio area. An internal water feature flows through the house to the back patio. Tiered seating and a starry setting for movie night. The entertainment precinct hugs the footprint of the pool, with the competition length bowling alley running the width of the back of the property with external access through the garage. All the fun stuff is hidden underneath.It is all here on one of the largest residential blocks in Stafford, and realestate.com.au has reported over 2000 property views in its first week on the market. There’s even room to park 10 cars in the garage. >>>FOLLOW THE COURIER-MAIL REAL ESTATE TEAM ON FACEBOOK<<< Because two lanes are better than one. MORE REAL ESTATE STORIES Step across the water feature to enter the master bedroom or living area.At the back of 94 Minimine St, Stafford, the roof peels off to expose the pool and an artificial turfed backyard with golf putting green that extends almost to the rear of the property.center_img Underneath this golf putting green is the tenpin bowling alley.The impression is of a single level home with only the ground level garage visible from street level. Andrea Richardson’s husband built this incredible piece of real estate and the family of four moved in 14 years ago. There’s room to park 10 cars here.The idea that this property also houses a two-lane bowling alley, Gold Class style cinema, games hall, wet bar and wine cellar, along with a garage for 10 cars, seems fanciful until you find an inconspicuous hallway door that leads down to the ground level. “I suppose we were inspired by the Brady Bunch,” Ms Richardson said.“It’s a little bit retro.”The house has been built into a sloping block with a 23m above ground pool wrapping around two sides of the upper level where all the bedrooms and living areas are located. The games hall features air hockey and pool tables, arcade games and a bar.“As the years have gone by we went through stages. We used it all the time when the kids were young and we had Christmas and birthdays down there. Then as the kids got older and more involved in school sport, it never got used. Now the kids are grown up and using it with their friends.“I was last down there for my 40th and I’m 49 now.“It has served our purpose.”Chris Rice of Place Bulimba is taking the property to market with tenders closing on May 28 at 5pm. The property at 94 Minimine St, Stafford is on 1783sq m. last_img read more

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