Welcome!

News Feed Item

Mount Sinai Research Underscores The Genetic Complexity In Schizophrenia

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:

Facebook: http://www.facebook.com/icahnmountsinai

This news release was issued on behalf of Newswise(TM). For more information, visit http://www.newswise.com.

SOURCE Mount Sinai Medical Center

More Stories By PR Newswire

Copyright © 2007 PR Newswire. All rights reserved. Republication or redistribution of PRNewswire content is expressly prohibited without the prior written consent of PRNewswire. PRNewswire shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon.

Latest Stories
Cloud promises the agility required by today’s digital businesses. As organizations adopt cloud based infrastructures and services, their IT resources become increasingly dynamic and hybrid in nature. Managing these require modern IT operations and tools. In his session at 20th Cloud Expo, Raj Sundaram, Senior Principal Product Manager at CA Technologies, will discuss how to modernize your IT operations in order to proactively manage your hybrid cloud and IT environments. He will be sharing bes...
After more than five years of DevOps, definitions are evolving, boundaries are expanding, ‘unicorns’ are no longer rare, enterprises are on board, and pundits are moving on. Can we now look at an evolution of DevOps? Should we? Is the foundation of DevOps ‘done’, or is there still too much left to do? What is mature, and what is still missing? What does the next 5 years of DevOps look like? In this Power Panel at DevOps Summit, moderated by DevOps Summit Conference Chair Andi Mann, panelists loo...
Automation is enabling enterprises to design, deploy, and manage more complex, hybrid cloud environments. Yet the people who manage these environments must be trained in and understanding these environments better than ever before. A new era of analytics and cognitive computing is adding intelligence, but also more complexity, to these cloud environments. How smart is your cloud? How smart should it be? In this power panel at 20th Cloud Expo, moderated by Conference Chair Roger Strukhoff, paneli...
Cloud applications are seeing a deluge of requests to support the exploding advanced analytics market. “Open analytics” is the emerging strategy to deliver that data through an open data access layer, in the cloud, to be directly consumed by external analytics tools and popular programming languages. An increasing number of data engineers and data scientists use a variety of platforms and advanced analytics languages such as SAS, R, Python and Java, as well as frameworks such as Hadoop and Spark...
"Loom is applying artificial intelligence and machine learning into the entire log analysis process, from start to finish and at the end you will get a human touch,” explained Sabo Taylor Diab, Vice President, Marketing at Loom Systems, in this SYS-CON.tv interview at 20th Cloud Expo, held June 6-8, 2017, at the Javits Center in New York City, NY.
The current age of digital transformation means that IT organizations must adapt their toolset to cover all digital experiences, beyond just the end users’. Today’s businesses can no longer focus solely on the digital interactions they manage with employees or customers; they must now contend with non-traditional factors. Whether it's the power of brand to make or break a company, the need to monitor across all locations 24/7, or the ability to proactively resolve issues, companies must adapt to...
A look across the tech landscape at the disruptive technologies that are increasing in prominence and speculate as to which will be most impactful for communications – namely, AI and Cloud Computing. In his session at 20th Cloud Expo, Curtis Peterson, VP of Operations at RingCentral, highlighted the current challenges of these transformative technologies and shared strategies for preparing your organization for these changes. This “view from the top” outlined the latest trends and developments i...
With major technology companies and startups seriously embracing Cloud strategies, now is the perfect time to attend 21st Cloud Expo October 31 - November 2, 2017, at the Santa Clara Convention Center, CA, and June 12-14, 2018, at the Javits Center in New York City, NY, and learn what is going on, contribute to the discussions, and ensure that your enterprise is on the right path to Digital Transformation.
@DevOpsSummit at Cloud Expo taking place Oct 31 - Nov 2, 2017, at the Santa Clara Convention Center, Santa Clara, CA, is co-located with the 21st International Cloud Expo and will feature technical sessions from a rock star conference faculty and the leading industry players in the world. The widespread success of cloud computing is driving the DevOps revolution in enterprise IT. Now as never before, development teams must communicate and collaborate in a dynamic, 24/7/365 environment. There is ...
"We are a monitoring company. We work with Salesforce, BBC, and quite a few other big logos. We basically provide monitoring for them, structure for their cloud services and we fit into the DevOps world" explained David Gildeh, Co-founder and CEO of Outlyer, in this SYS-CON.tv interview at DevOps Summit at 20th Cloud Expo, held June 6-8, 2017, at the Javits Center in New York City, NY.
Join us at Cloud Expo June 6-8 to find out how to securely connect your cloud app to any cloud or on-premises data source – without complex firewall changes. More users are demanding access to on-premises data from their cloud applications. It’s no longer a “nice-to-have” but an important differentiator that drives competitive advantages. It’s the new “must have” in the hybrid era. Users want capabilities that give them a unified view of the data to get closer to customers and grow business. The...
Artificial intelligence, machine learning, neural networks. We’re in the midst of a wave of excitement around AI such as hasn’t been seen for a few decades. But those previous periods of inflated expectations led to troughs of disappointment. Will this time be different? Most likely. Applications of AI such as predictive analytics are already decreasing costs and improving reliability of industrial machinery. Furthermore, the funding and research going into AI now comes from a wide range of com...
For organizations that have amassed large sums of software complexity, taking a microservices approach is the first step toward DevOps and continuous improvement / development. Integrating system-level analysis with microservices makes it easier to change and add functionality to applications at any time without the increase of risk. Before you start big transformation projects or a cloud migration, make sure these changes won’t take down your entire organization.
"When we talk about cloud without compromise what we're talking about is that when people think about 'I need the flexibility of the cloud' - it's the ability to create applications and run them in a cloud environment that's far more flexible,” explained Matthew Finnie, CTO of Interoute, in this SYS-CON.tv interview at 20th Cloud Expo, held June 6-8, 2017, at the Javits Center in New York City, NY.
Internet of @ThingsExpo, taking place October 31 - November 2, 2017, at the Santa Clara Convention Center in Santa Clara, CA, is co-located with 21st Cloud Expo and will feature technical sessions from a rock star conference faculty and the leading industry players in the world. The Internet of Things (IoT) is the most profound change in personal and enterprise IT since the creation of the Worldwide Web more than 20 years ago. All major researchers estimate there will be tens of billions devic...