|By PR Newswire||
|January 22, 2014 01:00 PM EST||
Largest exome studies to date establish critical new resources for biomedical community
NEW YORK, Jan. 22, 2014 /PRNewswire-USNewswire/ -- The Icahn School of Medicine at Mount Sinai today announced the publication of two papers in the journal Nature that reveal new information about the genetic complexity underpinning schizophrenia. These collaborative studies represent the largest exome sequencing efforts to date to elucidate this mental illness, and together found that the disorder is likely caused by far more rare genetic mutations than previously suspected.
In the publications, Mount Sinai scientists and their collaborators at the Broad Institute, Sanger Centre, Cardiff University, University of North Carolina, and the Karolinska Institute report large-scale projects that sequenced the genes of 6,948 people in Bulgaria and Sweden, including patients diagnosed with schizophrenia, their parents and healthy controls. Both studies determined that a very large number of rare genetic mutations contribute to risk for the disease, rather than only a few 'faulty' genes. The clinical and genetic information gathered on more than 3,000 affected individuals has produced the world's largest database on schizophrenia, a resource that will be invaluable to the biomedical community in continued efforts to elucidate factors that contribute to the disease.
"These new exome studies indicate that the genetic basis of schizophrenia is tremendously complex and will require further research to add RNA, protein, and other layers of data to the picture we are building," said Eric Schadt, PhD, the Jean C. and James W. Crystal Professor of Genomics at the Icahn School of Medicine at Mount Sinai, and Director of the Icahn Institute for Genomics and Multiscale Biology, part of the Mount Sinai Health System. "Now that we have this critical information, we can embark on the kind of massive-scale network analysis that our scientists have successfully used to characterize other complex diseases and start to think about new ways to treat these patients."
Schizophrenia is a chronic, often debilitating mental illness that affects 1 percent of the global population, including 2.4 million American adults. Symptoms include persistent auditory and visual hallucinations, delusions, and paranoia, among others. Patients today are treated with antipsychotic therapies that have seen little innovation in the last 20 years. Familial studies have consistently demonstrated a large role for inherited factors, arguing for continued genetic studies.
"The sheer volume of data generated in these projects is remarkable and suggests new ways of thinking about the role of rare mutations in schizophrenia," said Shaun Purcell, PhD, lead author of the Swedish population study and head of the Center for Statistical Genomics at Mount Sinai. "Although the complexity of the genetics is sobering, these types of studies should provide a firm base from which we can chart a course toward the ultimate goal of subtyping patients and offering a more personalized treatment path than the one-size-fits-all approach currently used."
Details of the two publications:
- "A polygenic burden of rare disruptive mutations in schizophrenia" by Shaun Purcell et al. This paper performed exome sequencing on 2,536 cases and 2,543 controls collected by the Karolinska Institute in Sweden. The authors report that many ultra-rare mutations across dozens of genes, particularly those related to proteins that influence brain circuitry, contribute to a person's risk of schizophrenia. Authors of this paper include researchers at the Stanley Center for Psychiatric Research at the Broad Institute, the Icahn School of Medicine at Mount Sinai, Massachusetts General Hospital, Karolinska Institute, Wellcome Trust Sanger Institute, University of Edinburgh, Harvard Medical School, and University of North Carolina.
- "De novo mutations in schizophrenia implicate synaptic networks" by Menachem Fromer et al. This paper reports the exome sequencing of 623 trios (parents and affected child) from Bulgaria and analysis of de novo mutations, finding some overlap between genes implicated in schizophrenia with ones already associated with autism and intellectual disability. De novo mutations fell in synaptic protein networks. Authors came from the Icahn School of Medicine at Mount Sinai, the Broad Institute, Cardiff University, Wellcome Trust Sanger Institute, University of Tartu, Medical University of Sofia, University of Helsinki, University of Edinburgh, Harvard Medical School, and Massachusetts General Hospital.
Funding for the studies was provided by the Friedman Brain Institute and the Icahn Institute for Genomics and Multiscale Biology at Mount Sinai, the National Institute of Mental Health, the National Human Genome Research Institute, the Sylvan Herman Foundation, a philanthropic gift from K. and E. Dauten, the Stanley Medical Research Institute, the Swedish Research Council, Medical Research Council, the European Community's Seventh Framework Programme, Fidelity Foundations, The Wellcome Trust, and the European Commission.
About the Mount Sinai Health System
The Mount Sinai Health System is an integrated health system committed to providing distinguished care, conducting transformative research, and advancing biomedical education. Structured around seven member hospital campuses and a single medical school, the Health System has an extensive ambulatory network and a range of inpatient and outpatient services--from community-based facilities to tertiary and quaternary care.
The System includes approximately 6,600 primary and specialty care physicians, 12 minority-owned free-standing ambulatory surgery centers, over 45 ambulatory practices throughout the five boroughs of New York City, Westchester, and Long Island, as well as 31 affiliated community health centers. Physicians are affiliated with the Icahn School of Medicine at Mount Sinai, which is ranked among the top 20 medical schools both in National Institutes of Health funding and by U.S. News & World Report. For more information, visit www.mountsinai.org.
Find Icahn School of Medicine at Mount Sinai on:
This news release was issued on behalf of Newswise(TM). For more information, visit http://www.newswise.com.
SOURCE Mount Sinai Medical Center
20th Cloud Expo, taking place June 6-8, 2017, at the Javits Center in New York City, NY, will feature technical sessions from a rock star conference faculty and the leading industry players in the world. Cloud computing is now being embraced by a majority of enterprises of all sizes. Yesterday's debate about public vs. private has transformed into the reality of hybrid cloud: a recent survey shows that 74% of enterprises have a hybrid cloud strategy.
Dec. 10, 2016 11:30 AM EST Reads: 2,019
Extracting business value from Internet of Things (IoT) data doesn’t happen overnight. There are several requirements that must be satisfied, including IoT device enablement, data analysis, real-time detection of complex events and automated orchestration of actions. Unfortunately, too many companies fall short in achieving their business goals by implementing incomplete solutions or not focusing on tangible use cases. In his general session at @ThingsExpo, Dave McCarthy, Director of Products...
Dec. 10, 2016 11:00 AM EST Reads: 1,006
In his session at Cloud Expo, Robert Cohen, an economist and senior fellow at the Economic Strategy Institute, provideed economic scenarios that describe how the rapid adoption of software-defined everything including cloud services, SDDC and open networking will change GDP, industry growth, productivity and jobs. This session also included a drill down for several industries such as finance, social media, cloud service providers and pharmaceuticals.
Dec. 10, 2016 11:00 AM EST Reads: 662
The many IoT deployments around the world are busy integrating smart devices and sensors into their enterprise IT infrastructures. Yet all of this technology – and there are an amazing number of choices – is of no use without the software to gather, communicate, and analyze the new data flows. Without software, there is no IT. In this power panel at @ThingsExpo, moderated by Conference Chair Roger Strukhoff, Dave McCarthy, Director of Products at Bsquare Corporation; Alan Williamson, Principal...
Dec. 10, 2016 11:00 AM EST Reads: 691
Infrastructure is widely available, but who’s managing inbound/outbound traffic? Data is created, stored, and managed online – who is protecting it and how? In his session at 19th Cloud Expo, Jaeson Yoo, SVP of Business Development at Penta Security Systems Inc., discussed how to keep any and all infrastructure clean, safe, and efficient by monitoring and filtering all malicious HTTP/HTTPS traffic at the OSI Layer 7. Stop attacks and web intruders before they can enter your network.
Dec. 10, 2016 11:00 AM EST Reads: 488
Without a clear strategy for cost control and an architecture designed with cloud services in mind, costs and operational performance can quickly get out of control. To avoid multiple architectural redesigns requires extensive thought and planning. Boundary (now part of BMC) launched a new public-facing multi-tenant high resolution monitoring service on Amazon AWS two years ago, facing challenges and learning best practices in the early days of the new service. In his session at 19th Cloud Exp...
Dec. 10, 2016 10:45 AM EST Reads: 1,049
Internet of @ThingsExpo has announced today that Chris Matthieu has been named tech chair of Internet of @ThingsExpo 2017 New York The 7th Internet of @ThingsExpo will take place on June 6-8, 2017, at the Javits Center in New York City, New York. Chris Matthieu is the co-founder and CTO of Octoblu, a revolutionary real-time IoT platform recently acquired by Citrix. Octoblu connects things, systems, people and clouds to a global mesh network allowing users to automate and control design flo...
Dec. 10, 2016 10:30 AM EST Reads: 906
Unsecured IoT devices were used to launch crippling DDOS attacks in October 2016, targeting services such as Twitter, Spotify, and GitHub. Subsequent testimony to Congress about potential attacks on office buildings, schools, and hospitals raised the possibility for the IoT to harm and even kill people. What should be done? Does the government need to intervene? This panel at @ThingExpo New York brings together leading IoT and security experts to discuss this very serious topic.
Dec. 10, 2016 10:15 AM EST Reads: 633
Businesses and business units of all sizes can benefit from cloud computing, but many don't want the cost, performance and security concerns of public cloud nor the complexity of building their own private clouds. Today, some cloud vendors are using artificial intelligence (AI) to simplify cloud deployment and management. In his session at 20th Cloud Expo, Ajay Gulati, Co-founder and CEO of ZeroStack, will discuss how AI can simplify cloud operations. He will cover the following topics: why clou...
Dec. 10, 2016 10:00 AM EST Reads: 1,083
In this strange new world where more and more power is drawn from business technology, companies are effectively straddling two paths on the road to innovation and transformation into digital enterprises. The first path is the heritage trail – with “legacy” technology forming the background. Here, extant technologies are transformed by core IT teams to provide more API-driven approaches. Legacy systems can restrict companies that are transitioning into digital enterprises. To truly become a lead...
Dec. 10, 2016 09:45 AM EST Reads: 640
"Qosmos has launched L7Viewer, a network traffic analysis tool, so it analyzes all the traffic between the virtual machine and the data center and the virtual machine and the external world," stated Sebastien Synold, Product Line Manager at Qosmos, in this SYS-CON.tv interview at 19th Cloud Expo, held November 1-3, 2016, at the Santa Clara Convention Center in Santa Clara, CA.
Dec. 10, 2016 09:30 AM EST Reads: 1,090
Internet-of-Things discussions can end up either going down the consumer gadget rabbit hole or focused on the sort of data logging that industrial manufacturers have been doing forever. However, in fact, companies today are already using IoT data both to optimize their operational technology and to improve the experience of customer interactions in novel ways. In his session at @ThingsExpo, Gordon Haff, Red Hat Technology Evangelist, will share examples from a wide range of industries – includin...
Dec. 10, 2016 09:00 AM EST Reads: 1,784
Kubernetes is a new and revolutionary open-sourced system for managing containers across multiple hosts in a cluster. Ansible is a simple IT automation tool for just about any requirement for reproducible environments. In his session at @DevOpsSummit at 18th Cloud Expo, Patrick Galbraith, a principal engineer at HPE, discussed how to build a fully functional Kubernetes cluster on a number of virtual machines or bare-metal hosts. Also included will be a brief demonstration of running a Galera MyS...
Dec. 10, 2016 08:45 AM EST Reads: 5,481
The WebRTC Summit New York, to be held June 6-8, 2017, at the Javits Center in New York City, NY, announces that its Call for Papers is now open. Topics include all aspects of improving IT delivery by eliminating waste through automated business models leveraging cloud technologies. WebRTC Summit is co-located with 20th International Cloud Expo and @ThingsExpo. WebRTC is the future of browser-to-browser communications, and continues to make inroads into the traditional, difficult, plug-in web co...
Dec. 10, 2016 08:30 AM EST Reads: 1,512
"We build IoT infrastructure products - when you have to integrate different devices, different systems and cloud you have to build an application to do that but we eliminate the need to build an application. Our products can integrate any device, any system, any cloud regardless of protocol," explained Peter Jung, Chief Product Officer at Pulzze Systems, in this SYS-CON.tv interview at @ThingsExpo, held November 1-3, 2016, at the Santa Clara Convention Center in Santa Clara, CA.
Dec. 10, 2016 08:15 AM EST Reads: 1,264