Researchers flag hundreds of new genes that could contribute to autism

first_imgLinkedIn Email Share on Twitter “Geneticists can now focus on the top-ranked autism-risk gene predictions from our machine-learning program, both to direct future genome sequencing studies and to prioritize individual genes for experimental studies,” said co-lead author Arjun Krishnan, an associate research scholar at Princeton’s Lewis-Sigler Institute for Integrative Genomics.“The method we developed can, for the first time, identify ASD-associated genes even if they have not been previously linked to autism in genetic studies,” said Olga Troyanskaya, senior author of the paper and a Princeton professor of computer science and genomics, as well as deputy director for genomics at the Simons Center for Data Analysis. “It is vitally important that we begin to explore underappreciated aspects of how autism arises and might someday be treated.”Autism has emerged in recent decades as one of the most common developmental disorders. The disorder, which has no cure, is characterized by difficulties in communicating, learning and socializing. Children often are not diagnosed until they are 3 or 4 years old. However, intervention services, such as physical and behavioral therapy, in a child’s first few years have been shown to improve development. Therefore, clinicians are keen on detecting autism as early as possible.“It is very important that we improve ways to diagnose kids with autism earlier so we can do earlier interventions,” Krishnan said. “Furthermore, getting a handle on where, when and how autism spectrum disorders arise during brain development will be absolutely critical for drug and treatment development in the decades ahead.”“This study is elegant, sophisticated and comprehensive,” said Daniel Geschwind, director of the Center for Autism Research and Treatment at the University of California-Los Angeles, who is familiar with the study but had no role in it. “It pulls together essentially all of the data out there on using network-based approaches to better understand autism.”Other Princeton researchers involved in the study are graduate student and co-lead author Ran Zhang, as well as graduate student Victoria Yao, lab manager Chandra Theesfeld and scientific software engineer Alicja Tadych. The other Simons Foundation authors are Aaron Wong, Natalia Volfovsky, Alan Packer and Alex Lash. Funding came primarily from the National Institutes of Health.The researchers began with a “functional interaction network” of the human brain they had originally constructed little more than a year ago. The network describes how genes in the human genome work together in the brain’s molecular circuits. While every cell in the human body contains a complete set of genetic instructions for the whole body, only a portion of these genes are “turned on” in any given cell at any given point in development or everyday life. Mutations to genes — when their orderly coding becomes scrambled — can prevent them from working in concert with other genes, leading to dysfunction and illness.“We have so many types of cells in our body, and though each cell has the same set of genes, or the same box of tools, each cell type can perform very different activities by wiring these tools in different ways,” Krishnan said. “We want to discover and understand the disruptions to the genetic toolkit in the brain of people with autism to learn about its origins.”The brain-specific network the researchers relied on pooled results from thousands of previous experiments, each of them revealing piece-by-piece how genes function together throughout the human body. Next, the team applied their machine-learning program to this network. The program quickly sifted through the entire network of more than 100 million gene interactions to draw out information, learning characteristics that indicate a connection to autism, and honing the quality of returns as they proceeded.Just as teachers offer students positive and negative feedback, the Princeton and Simons Foundation team trained the machine-learning program on the connectivity patterns of known ASD-associated genes, as well as human disease genes with no association to neurodevelopment. Based on those initial cues, the program then analyzed all 25,825 genes in the human genome, seeking any interaction patterns that resemble those of ASD-related genes.Encouragingly, within its top 10 percent of ranked predictions — around 2,500 genes — the program correctly identified numerous ASD-associated genes that were different from the known ones initially used to “train” the computer program. More importantly, the program highlighted several brand-new, compelling candidate genes with no prior genetic evidence tying them to autism. “These novel genes for autism risk are great candidates for further study,” Krishnan said.To gain context for their findings, the researchers considered their gene-prediction results alongside a map of gene expression in the developing brain compiled by neuroscientists at the Yale University School of Medicine. A distinct pattern of gene activity and inactivity popped up in babies’ brains while in utero. Through the prenatal into the late-fetal stages, altered development occurred broadly across neural regions related to autism by previous studies. These regions include the cerebellum, which coordinates and integrates muscle movement and sensory information, as well as the striatum, which is involved in motivation, planning and decision-making.“It is quite clear in our findings that the signal for autism is really there in early development,” Troyanskaya said. “The signal is regionally diffuse, implying autism is likely a disorder of general brain development, and not just one specific brain region.”A significant portion of the genes with a predicted link to autism have no known function in the brain, Troyanskaya said.“Although the human genome was mapped early last decade, we still don’t know what a majority of human genes do,” she said. “Our study underlines the fact that we have a great deal yet to learn about the operation of genes in the brains of neurotypical and autistic people.” Share on Facebookcenter_img Investigators eager to uncover the genetic basis of autism could now have hundreds of promising new leads thanks to a study by Princeton University and Simons Foundation researchers.In the first effort of its kind, the research team developed a machine-learning program that scoured the whole human genome to predict which genes may contribute to autism spectrum disorder (ASD). The results of the program’s analyses — a rogue’s gallery of 2,500 candidate genes — vastly expand on the 65 autism-risk genes currently known. Researchers have recently estimated that 400 to 1,000 genes underpin the complex neurodevelopmental disorder.This newest research provides a manageable, “highly enriched” pool from which to pin down the full suite of ASD-related genes, the researchers said. Many of the newly implicated genes have never been studied for their possible roles in ASD. Following up on these leads will help scientists delve deeper into autism’s strong yet byzantine genetic basis, as well as possibly lead to new diagnostic and treatment techniques. The paper was published Aug. 1 in the journal Nature Neuroscience and the researchers have made their results available online. Pinterest Sharelast_img read more

Norway: Aviation authority grounds all EC225 helicopters after crash near Bergen

first_imgNorwegian Civil Aviation Authority has grounded all EC255 type helicopters in Norway following an incident that happened on Friday when a helicopter carrying workers from Statoil’s Gullfaks B platform crashed off Bergen.Eleven people have been confirmed dead, with search and rescue ongoing for the remaining two.The aviation authority issued a safety directive limiting operations of Airbus Helicopters EC225LP in Norway.“This Safety Directive contains mandatory action that is required to establish an acceptable level of safety,” said the authority in the document addressed to BlueWay Offshore Norge AS, Bristow Norway AS, CHC Helikopter Service AS.The order does not apply to any Search and Rescue flights for the purpose of saving life. The Safety Directive entered into force on April 29, 2916 at 14:00 hrs UTC and will remain in force until revoked by a new Safety Directive.Statoil had grounded all the helicopters of the type even before the safety directive was launched.In the meantime, Accidents Investigation Board Norway has located Flight Data Recorder and Cockpit Voice Recorder. AIBN said it would bring the recorders to England for reading as soon as possible. AIBN will get assistance from the French and the English investigation board in further investigation at the accident site. In addition, representatives of the CAA and EASA will participate.Offshore Energy Today Stafflast_img read more

A spot of bovver

first_imgSubscribe now for unlimited access Subscribe to Building today and you will benefit from:Unlimited access to all stories including expert analysis and comment from industry leadersOur league tables, cost models and economics dataOur online archive of over 10,000 articlesBuilding magazine digital editionsBuilding magazine print editionsPrinted/digital supplementsSubscribe now for unlimited access.View our subscription options and join our community Stay at the forefront of thought leadership with news and analysis from award-winning journalists. Enjoy company features, CEO interviews, architectural reviews, technical project know-how and the latest innovations.Limited access to building.co.ukBreaking industry news as it happensBreaking, daily and weekly e-newsletters To continue enjoying Building.co.uk, sign up for free guest accessExisting subscriber? LOGIN Get your free guest access  SIGN UP TODAYlast_img read more

Loco modernisation demonstrated

first_imgPOLAND: Electric locomotive repair works ZNLE has recently completed a thorough modernisation of an EU07 electric locomotive. There are more than 450 locos of this class in service in Poland, and the contractors hope to win significant volumes of work if they can offer PKP an affordable refurbishment programme.The locomotives were built by Pafawag in Wroclaw and H Cegielski in Poznan between 1963 and 1994. The design was licensed from English Electric, which supplied an initial 20 EU06 locomotives in 1962. ZNLE has changed the gear ratio to overcome a long-standing problem with overheating traction motors, and has used a patented system for adjusting brush shunts, to improve reliability and extend maintenance intervals. The cab has been fitted with modern cooling and heating systems and better soundproofing, while the driving desk has been redesigned. The previous pantograph has been replaced with a Stemmann-Technik design. Halogen headlights and LED marker lights have been installed at each end of the locomotive, along with LED passenger information displays.The first locomotive to be modernised is allocated to regional passenger business PKP PR, but it is expected to be transferred to PKP Intercity shortly. Following the rebuild the EU07 locomotive has been reclassified as EP07, reflecting the change from universal to passenger use.last_img read more

1950 tonne truss bridge span moved into place

first_imgUSA: A 120 m long bridge installed on August 25 is claimed by the Chicago Department of Transportation to be the largest truss bridge span ever to be moved into place following off-site assembly.General contractor Walsh Construction used four self-propelled mobile transporters to move the fully-assembled 1 950 tonne span from its nearby assembly site. The bridge is one of six road, rail and foot bridges being built as part of a $101m grade-separation project to improve road and rail traffic flows at the complicated intersection of 130th Street and Torrence Avenue under the ‘Building a New Chicago’ infrastructure programme. It also forms a part of the CREATE programme to improve the efficiency of rail operations in the Chicago region. CREATE is being undertaken through a partnership between the city of Chicago, state of Illinois, US Department of Transportation, freight railways and passenger operators Metra and Amtrak. The new bridge will carry South Shore Line commuter services and freight over Norfolk Southern tracks. In addition, 130th Street and Torrence Avenue are being lowered to pass under new rail bridges which will eliminate level crossings on the NS freight lines.last_img read more

Radiall and Molex Introduce the Expansion of the SMP-MAX Series

first_imgFeaturing new symmetrical adapters and over 80 connector variations Molex Incorporated and Radiall announced the continued collaboration and expansion of their cost-effective SMP-MAX series with new symmetrical adapters and RF coaxial interconnect solutions for board-to-board, module-to-module and panel-to-panel telecom applications. As a second source, Molex is designing, manufacturing and marketing these connectors for global customers. “We’ve grown the SMP-MAX connector family substantially with over 80 specific designs, which were developed over the past 18 month period, the new products offer the largest misalignment tolerance in the industry for simple and reliable connections even in blind-mate applications”,  said Roger Kauffman, Marketing/Sales Manager for RF Products, Molex. The new SMP-MAX symmetrical adapters eliminate the risk of assembly errors during manufacturing. Molex has over 80 specific SMP-MAX connector designs that have been developed for global telecom customers, making SMP-MAX one of the fastest growing series in the RF industry. SMP-MAX is currently being deployed in numerous wireless telecom projects in North America, Europe and Asia as a cost-effective solution adaptable to virtually any configuration. The SMP-MAX can handle a maximum board-to-board distance tolerance of up to at least 2.00 mm (0.078”) gap without a spring – much greater than the standard SMP. It also features a 3 degree tilt (radial travel), it has an operating frequency range of DC-6 GHz, a 1.2 max VSWR up to 3 GHz, and it can handle up to 300 Watts of power at 2.7 GHz.last_img read more

Naza Premira to Stop Vespa Operations

first_imgNaza Premira Sdn. Bhd. announced that they will cease operations for the Vespa brand with effect from 1st January 2020.The news was confirmed by Group Executive Chairman & Group CEO of Naza Corporation Holdings Sdn. Bhd., SM Nasarudin SM Nasimuddin.“Since July, the Naza Group and Piaggio Group have been in mutual discussion with regards to the separation. We thank the Piaggio Group for our nine-year partnership and wish them all the best with their new partner.”He added that letting the brand go was due to the corporation reassessing and strengthening their operations.The company will continue to provide vehicle service, parts, warranty and aftersales service until 31st December 2019.Although the news may come as no surprise to some, executives from the Piaggio Group had brushed aside the question on many occasions prior to this. The last such instance was during the Moto Guzzi V85TT Asia Pacific Media Launch in May 2019 which took place in Thailand.As for the future distributor, it is expected that Didi Resources Sdn. Bhd. will take over the operations. This in view of them already being the custodians of two other Piaggio Group brands namely Moto Guzzi and Aprilia.Stay tuned for further news.–Ads– Naza Premira Sdn. Bhd. will cease Vespa operations. The move takes effect from 1st January 2020.center_img They will continue to provide services for the brand until 31st December 2019.last_img read more

Report: Bristol Ladies 48-0 DMP Sharks

first_imgChantelle Miell (sponsored by Dambusters Rugby) hit home early, as the team got the ball out wide and the winger darted over in the corner to give the home side the lead three minutes in.Claire Molloy got the second try of the afternoon with a stunning run through the DMP defence and beating the last defender to the line.The third try came via a brilliant interaction between Poppy Cleall and Clara Nielson, linking up to send Meg Jones through under the posts, with Jones then converting her own efforts, taking the score to 17–0.Darlington never really threatened the Bristol line, with the home team’s defence holding strong for 80 minutes. Abbie Parsons (sponsored by Empica PR) finished off a great team try by spotting the gap to get the ball over the line for her first ever try in Bristol colours. Jones converted taking the score to 24–0.The second-half saw Bristol double their points tally with tries from Miell, Sarah Bern (Fifth Consultancy) and two from Amy Wilson Hardy (sponsored by Massey Cladding Solutions) – a great performance from Amy on her first run out in a Bristol shirt this season.Bristol Ladies are back in action on the Sunday, January 8th away to Lichfield.Follow @Bristol_L_Rugby to keep up-to-date on all the action.  Bristol Ladies Media – sponsored by Wring Group.last_img read more

High school boys basketball: Bossier suffers tough loss; Plain Dealing wins

first_imgThe Bossier Bearkats suffered a tough 74-72 loss to the Woodlawn Knights in a District 1-4A opener before a packed house Friday night at Bossier.Woodlawn came into the game at No. 4 in the latest Class 4A power rankings. Bossier was No. 6.Jacoby Decker led the Bearkats with 21 points. Sophomore D’Ante Bell added 13.Janyron Rogers and Tyron McCoy scored 10 each. Kaalas Roots added nine and Tim King seven.Bossier fell to 9-6. Woodlawn improved to 15-3.In a non-district game, the Plain Dealing Lions routed North Webster 80-35 at Plain Dealing.Derrian Perry and Dakeldric Oliver led the Lions with 19 and 15 points, respectively. Jakaleb McGee and Ladarius O’Neal scored 10 each.Plain Dealing improved to 6-8.Airline lost to Jehovah-Jireh 83-78 in overtime in the Walker tournament Friday. The Vikings fell to McKinley 76-61 Thursday.Airline dropped to 8-9.— Russell Hedges, rhedges@bossierpress.comPerfect-Dating.comAre You Ready to Meet Cool Guys in Tung Chung?Perfect-Dating.com|SponsoredSponsoredUndoTheTopFiveVPNThe Secret Netflix Doesn’t Want You To Know To Unblock RestrictionsTheTopFiveVPN|SponsoredSponsoredUndoAspireAbove.comRemember Abby from NCIS? Take A Deep Breath Before You See How She Looks NowAspireAbove.com|SponsoredSponsoredUndoNews gadgetThis watch takes the whole country by storm! it’s price? Ridiculous!News gadget|SponsoredSponsoredUndoTheTopFiveVPNThe Trick Netflix Doesn’t Want You To Know To Unlock RestrictionsTheTopFiveVPN|SponsoredSponsoredUndoCelebsland.com9 Celebrity Before-And-After Plastic Surgery DisastersCelebsland.com|SponsoredSponsoredUndolast_img read more

SEC Championship tickets cheapest since 2010

first_imgATLANTA — The No. 1 ranked Alabama Crimson Tide will face the No. 14 ranked Missouri Tigers in the SEC championship at the Georgia Dome Dec. 6 and tickets for the game are much cheaper than recent years.The current average price for the SEC championship game is $251.46 with a get in price of $113, according to TiqIQ.The New York-based event ticket seller reported this years championship has the lowest average price since 2010 and 50.5 percent lower than the 2013 SEC Championship game.The average prices of every SEC Championship games since 2010:2010- Auburn vs. South Carolina: $668.742011- LSU vs. Georgia: $440.232012- Alabama vs. Georgia: $602.242013- Missouri vs. Auburn: $508.272014- Missouri vs. Alabama: $251.46The average prices for each of the other major conference championship games:Big Ten- Wisconsin vs. Ohio State: $158.78 ACC- Florida State vs. Georgia Tech:$129.48PAC 12- Oregon vs. Arizona: $123.91Alabama is a 14-point favorite, according to OddsShark.com.<!–iframe–>last_img read more