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

US Blocks Chinese Medical Shipment to Cuba

first_img 224 Views   no discussions Tweet Sharing is caring! BusinessCoronavirusInternationalLifestyleNewsPoliticsRegional US Blocks Chinese Medical Shipment to Cuba by: – April 2, 2020 (SKN Observer) Cuba has slammed the US’ “criminal blockade” of the country after the embargo stood in the way of the delivery of Covid-19 test kits and ventilators donated by Chinese e-commerce tycoon Jack Ma.“The criminal blockade of the imperial government violates the human rights of the Cuban people,” President Miguel Diaz-Canel tweeted on Wednesday.Cuba’s envoy to Beijing, Carlos Miguel Pereira, explained that an American firm was hired to deliver medical goods necessary to fight Covid-19, which were donated by a fund run by Jack Ma, Chinese philanthropist and owner of e-commerce giant Alibaba. However, the firm refused to deliver the shipment “at the last minute,” Pereira said.According to the Xinhua News Agency, the company had specifically worried about the possibility of violating the 1995 US Helms-Burton Act, which strengthened sanctions against Cuba.Cuba has 212 confirmed Covid-19 cases, with six deaths, according to data compiled by Johns Hopkins University.Also on Not letting Covid-19 crisis go to waste? US ramps up war on drugs… focusing on Venezuela’s MaduroMa announced last month that his foundation would donate emergency medical supplies to Cuba and 23 other Caribbean and South American nations. The donation was said to include 2 million masks, 400,000 test kits, and 104 ventilators.The US has maintained a trade embargo against Cuba since 1960.center_img Share Share Sharelast_img read more

Airbus boost for SA aerospace sector

first_img27 June 2013South African state-owned defence equipment manufacturer Denel has signed a R157-million agreement with Airbus to manufacture tail plane parts for the A400M strategic airlifter.The contract will last eight years, with production beginning in the next few months; the first finished parts will be shipped to Airbus’ manufacturing plant in Stade, Germany in August 2013.It demonstrates the confidence that international manufacturers have in South Africa’s aerospace industry, according to Denel Group chief executive officer Riaz Saloojee.“We have proven ourselves to be a reliable and innovative top tier supplier to one of the most sophisticated aircraft manufacturing programmes in the world,” he said in a statement last week.“Airbus’s decision to place a third major order with Denel shows satisfaction with the quality of our design and manufacturing processes and our ability to deliver on time and within budgets.”The deal includes the manufacturing of vertical beams known as spars, horizontal composite machinings called ribs and a connecting plate at the bottom known as the sword.All of these parts are constructed from carbon fibre composites and covered with a metallic skin and added to the internal tail structure before the plane is assembled.“The vertical tail plane is a flight critical part of an aircraft of the size of the A400M and contributes to its unique ability to land and take off carrying payloads in excess of 35 000 kilograms,” the company said.“The new contract places the company at the core of the global aerospace manufacturing industry,” said Denel Aerostructures CEO Ismail Dockrat.Denel Aerostructures has also just completed a relocation of its operations to one location, which will cut costs and improve efficiency, as well as position the company to take on more manufacturing work.Dockrat said the contract also confirms that Denel is at the forefront of global trends to use composite materials for high-tech manufacturing and is driving the trend in the country.“Denel Aerostructures has made significant investments in a composite facility in which it is able to manufacture products ranging from simple aircraft parts to complex main rotor blades for helicopters,” the company said.“Government, in its Aerospace Sector Development Plan, recognises the immense potential of the composite sector, noting that it will be dominant in aerospace going forward and should be integral to future business planning,” Dockrat said.SAinfo reporterlast_img read more

South African universities dominate Africa ranking

first_img17 August 2015South African universities dominated a pilot list that ranked 30 of Africa’s top institutions. A total of 11 South African universities made the Times Higher Education (THE) Africa University Ranking.It was unveiled at THE’s African Universities Summit held at the University of Johannesburg (UJ) on 30 and 31 July.In the top 10 alone, six South African establishments are named, with University of Cape Town and Wits University placed first and second respectively.The results did not come as a surprise as South Africa dominates an initial snapshot list of African universities in THE’s World University Rankings published earlier in the year.The list also reflected the healthy state of education in Egypt, with six institutions from the North African country making the cut. However, two of its more popular institutions, Cairo University and Al-Azhar University, were not featured.Some unexpected or lesser-known institutions also made it on to the list, such as the Universite Cadi Ayyad (10), Port Harcourt (6), the Universite de Sfax in Tunisia (28), Universite Hassan II (15) and several other institutions from Egypt, namely; Suez Canal University (14), South Valley University and Minia University (30).“Long way to go”Rankings were determined by the methodology used for the current World University Ranking. It takes into consideration 13 factors including learning environment, research and citations.THE rankings editor Phil Batty told the Mail & Guardian Africa that even though they had spent the last five years modifying and refining a methodology that would be better suited to an African, as opposed to a global, ranking, “there’s still a long way to go”. What THE had created was “a snapshot of research strength”.This was due to a lack of extensive data, he said. This was “the very start of the story. Because world rankings are driven by research, innovation and tech development, we need to work with African universities on indicators such as their teaching and graduate success. The rankings we’re publishing are actually very much the starting point. We want to use this conference to convince universities to start collecting and sharing data more consistently.”UJ played a critical role in the creation of the Africa ranking. Professor Ihron Rensburg, UJ’s vice-chancellor and principal, told Mail & Guardian Africa that the university conceptualised the idea and “asked THE to do it jointly – bringing together our driving ambition and creating a forum for African universities to debate and dialogue”.THE’s ranking follows another list that regarded South African universities highly. The Quacquarelli Symonds University Rankings was released on 8 July. It placed eight of South Africa’s universities in the top 100 universities in Brics, with the highest placed institutions being UCT (14) Wits (28), Stellenbosch (34) and Pretoria (49).The full THE Africa University Ranking:University of Cape Town (South Africa)University of the Witwatersrand (South Africa)Makerere University (Uganda)University of Stellenbosch (South Africa)University of KwaZulu-Natal (South Africa)University of Port Harcourt (Nigeria)University of the Western Cape (South Africa)University of Nairobi (Kenya)University of Johannesburg (South Africa)Universite Cadi Ayyad (Morocco)University of Pretoria (South Africa)University of Ghana (Ghana)University of South Africa (South Africa)Suez Canal University (Egypt)Universite Hassan II (Morocco)Addis Ababa University (Ethiopia)Rhodes University (South Africa)University of The Free State (South Africa)North West University (South Africa)University of Tunis (Tunisia)Ecole Nationale d’Ingenieurs de Sfax (Tunisia)Universite Mohammed V – Agdal (Morocco)American University in Cairo (Egypt)Nelson Mandela Metropolitan University (South Africa)South Valley University (Egypt)Alexandria University (Egypt)Assiut University (Egypt)University of Sfax (Tunisia)University of Yaounde (Cameroon)Minia University(Egypt)SAinfo reporterlast_img read more

Russian-Speaking Hackers are Using Email to Attack US Retailers and Others

first_imgInside the United States, the hacking group, called TA505, has focused its attacks on the retail and hospitality sectors—with an emphasis on large retailers, including a popular U.S.-based department store chain.Cyber attackers have found an inventive new way to rip off retailers and others, a digital security firm says. An investigation by researchers at security vendor CyberInt Technologies Ltd. say they have connected a single group of hackers, known as TA505, to a range of attacks against retailers and financial institutions around the world. The hackers conduct their attacks by using legitimate remote-access software and innocent-looking files attached to “spear-phishing” emails… Digital Commerce 360 Stay UpdatedGet critical information for loss prevention professionals, security and retail management delivered right to your inbox.  Sign up nowlast_img read more

Digital Transformation: Balancing the Risk of Getting it Wrong Versus the Risk of Not Doing Anything

first_imgFOMO – the Fear of Missing Out.  It’s a hot button that marketers love to push.  Digital Transformation is the current hype and has become a marketing mantra for many tech businesses. The marketers aren’t totally wrong.  It is big.  It is useful.  When done right digital transformation can save a business plenty and also can bring many additional benefits, like better customer support and interaction, better reputation, and better product design and implementation.But do you need it tomorrow or next month or even next year? Sure, it would be great, but rushing to implement an ill-conceived plan may do more damage than good.  Good planning and investigation up front will save you headaches and job loss later.A survey by Advance 2000 (research completed by Vanson Bourne) found that 85 percent of business executives said that they will fall behind their competitors within two years unless they adopt digital transformation.  89 percent said that they industry that they compete in is being disrupted and that they need to respond. More than one quarter said their businesses won’t survive if they can’t make the transition.The Advance 2000 survey found that balancing the urge to to take quick action, executives worry if the implementation doesn’t work out  73 percent of executives worry that they could be fired if the project fails.  And it is no wonder that they worry — the survey also found that 90 percent of digital transformation projects fail to meet expectation.  Don’t forget to plan.last_img read more