Welcome!

News Feed Item

Researchers at Beth Israel Medical Center and the Icahn School of Medicine at Mount Sinai Discover New Genetic Basis for Dystonia, A Debilitating Movement Disorder

Discovery of Gene Provides Opportunity for Development of Diagnostic Tests and Novel Treatments

NEW YORK, Dec. 26, 2012 /PRNewswire/ -- Scientists from Beth Israel Medical Center and the Icahn School of Medicine at Mount Sinai have announced the discovery of a novel gene for primary torsion dystonia, a debilitating neurological disorder estimated to affect no fewer than 300,000 people in the US and Canada.

Published online December 9 in Nature Genetics, the findings describe the GNAL gene, the first primary torsion dystonia gene that directly points to pathways in the brain's dopamine system as the origin of pathophysiology. Genetic study in two extensively studied dystonia families revealed mutations in GNAL. Further screening of 39 additional affected families identified another six mutations in this gene. The research unveils a new potential therapeutic target and thus an opportunity for developing new treatments. This discovery will also help development of genetic tests to confirm diagnosis, identify unaffected adult carriers, and provide greater reproductive health options for affected families.

The discovery was made through the collaboration of a clinical research team of movement disorder specialists in the United States and Canada led by Susan Bressman, MD, Chair of the Mirken Department of Neurology at Beth Israel Medical Center and the work of the molecular genetic laboratory at the Icahn School of Medicine at Mount Sinai, led by Laurie Ozelius, PhD, Associate Professor in the Department of Genetics and Genomic Sciences there.  "Ultimately, this work derived from the generosity of patients and families who participated in these studies for a 25 year period," says Dr. Bressman.  "The study emphasizes the great utility of a truly long-term, collaborative study of patients and families and the importance of investing in the clinical and laboratory infrastructure to keep the study of these patients and families an ongoing venture."

Primary torsion dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures that can affect the face, neck, arms, legs, or torso. Common symptoms include tremors, voice problems, or a dragging foot. Adults and children of all backgrounds may be affected. The disorder is dominantly inherited with reduced penetrance, making it difficult to predict which family members may be at risk without genetic screening. Three additional genes associated with primary torsion dystonia have been identified.

"The technique used for the identification of the GNAL gene—called exome sequencing—is a powerful and efficient tool that will accelerate the pace of dystonia gene discovery and, consequently, our understanding of the pathways involved in primary torsion dystonia," says Dr. Ozelius, who led the laboratory effort.   

"Any new gene offers the potential to develop new therapeutics, but because GNAL belongs to a well studied pathway, other components in this pathway may also be targets for drug development" adds Tania Fuchs, PhD, Instructor in the Department of Genetics and Genomic Sciences of the Icahn School of Medicine at Mount Sinai, who is first author of the paper.

This research was funded in part by the Dystonia Medical Research Foundation, the Bachmann-Strauss Dystonia & Parkinson's Foundation, and the National Institute of Health (NIH).

Study authors also include scientists from Scripps Research Institute; Toronto Western Hospital, University of California, San Francisco; Emory University School of Medicine;, Jefferson Hospital for Neuroscience, Massachusetts General Hospital and Institute National de la Sante et la Recherche Medicale (INSERM).

The abstract may be found at: http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2496.html

About the Dystonia Medical Research Foundation:
Founded in 1976, the Dystonia Medical Research Foundation (DMRF) is a 501(c)3 non-profit organization dedicated to serving people with dystonia and their families. The DMRF has grown from a small family-based foundation into a dynamic membership-driven organization led by a Board of Directors and network of volunteers with personal connections to dystonia.  For over 36 years, the DMRF has supported and stimulated the field of dystonia research. Work supported by the DMRF has led to an overall better understanding of dystonia as well as breakthroughs in genetics and therapeutics. In addition to funding investigators, the scientific program of the DMRF includes contracts with pharma/biotech companies on targeted projects, scientific meetings and workshops, a clinical fellowship program, brain bank collective, international medical symposiums, and serving as an administrative center for the Dystonia Coalition. The Medical and Scientific Advisory Council (MSAC) is comprised of pre-eminent researchers and clinicians from various scientific disciplines. The members are responsible not only for grant review but also for setting the direction of the research to find more effective treatments and ultimately a cure.

About the Bachmann-Strauss Foundation:
The Bachmann-Strauss Foundation is an independent, nonprofit, 501© 3 organization that was established in 1995 by Louis Bachmann (1916-2000) and Bonnie Strauss in order to find better treatments and cures for the movement disorders dystonia and Parkinson's disease, and to provide medical and patient information.  Key among its efforts, the Foundation funds scientific and clinical research and helps raise awareness of Parkinson's disease and dystonia among the general public and the medical community.

If you would like to interview Dr. Bressman, please contact Elizabeth Dowling in the Beth Israel public affairs department at: 212-523-4047.

SOURCE Beth Israel 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
Blockchain. A day doesn’t seem to go by without seeing articles and discussions about the technology. According to PwC executive Seamus Cushley, approximately $1.4B has been invested in blockchain just last year. In Gartner’s recent hype cycle for emerging technologies, blockchain is approaching the peak. It is considered by Gartner as one of the ‘Key platform-enabling technologies to track.’ While there is a lot of ‘hype vs reality’ discussions going on, there is no arguing that blockchain is b...
Blockchain is a shared, secure record of exchange that establishes trust, accountability and transparency across business networks. Supported by the Linux Foundation's open source, open-standards based Hyperledger Project, Blockchain has the potential to improve regulatory compliance, reduce cost as well as advance trade. Are you curious about how Blockchain is built for business? In her session at 21st Cloud Expo, René Bostic, Technical VP of the IBM Cloud Unit in North America, discussed the b...
ChatOps is an emerging topic that has led to the wide availability of integrations between group chat and various other tools/platforms. Currently, HipChat is an extremely powerful collaboration platform due to the various ChatOps integrations that are available. However, DevOps automation can involve orchestration and complex workflows. In his session at @DevOpsSummit at 20th Cloud Expo, Himanshu Chhetri, CTO at Addteq, will cover practical examples and use cases such as self-provisioning infra...
"Storpool does only block-level storage so we do one thing extremely well. The growth in data is what drives the move to software-defined technologies in general and software-defined storage," explained Boyan Ivanov, CEO and co-founder at StorPool, in this SYS-CON.tv interview at 16th Cloud Expo, held June 9-11, 2015, at the Javits Center in New York City.
You know you need the cloud, but you’re hesitant to simply dump everything at Amazon since you know that not all workloads are suitable for cloud. You know that you want the kind of ease of use and scalability that you get with public cloud, but your applications are architected in a way that makes the public cloud a non-starter. You’re looking at private cloud solutions based on hyperconverged infrastructure, but you’re concerned with the limits inherent in those technologies.
Is advanced scheduling in Kubernetes achievable?Yes, however, how do you properly accommodate every real-life scenario that a Kubernetes user might encounter? How do you leverage advanced scheduling techniques to shape and describe each scenario in easy-to-use rules and configurations? In his session at @DevOpsSummit at 21st Cloud Expo, Oleg Chunikhin, CTO at Kublr, answered these questions and demonstrated techniques for implementing advanced scheduling. For example, using spot instances and co...
As Marc Andreessen says software is eating the world. Everything is rapidly moving toward being software-defined – from our phones and cars through our washing machines to the datacenter. However, there are larger challenges when implementing software defined on a larger scale - when building software defined infrastructure. In his session at 16th Cloud Expo, Boyan Ivanov, CEO of StorPool, provided some practical insights on what, how and why when implementing "software-defined" in the datacent...
A strange thing is happening along the way to the Internet of Things, namely far too many devices to work with and manage. It has become clear that we'll need much higher efficiency user experiences that can allow us to more easily and scalably work with the thousands of devices that will soon be in each of our lives. Enter the conversational interface revolution, combining bots we can literally talk with, gesture to, and even direct with our thoughts, with embedded artificial intelligence, whic...
The cloud era has reached the stage where it is no longer a question of whether a company should migrate, but when. Enterprises have embraced the outsourcing of where their various applications are stored and who manages them, saving significant investment along the way. Plus, the cloud has become a defining competitive edge. Companies that fail to successfully adapt risk failure. The media, of course, continues to extol the virtues of the cloud, including how easy it is to get there. Migrating...
The use of containers by developers -- and now increasingly IT operators -- has grown from infatuation to deep and abiding love. But as with any long-term affair, the honeymoon soon leads to needing to live well together ... and maybe even getting some relationship help along the way. And so it goes with container orchestration and automation solutions, which are rapidly emerging as the means to maintain the bliss between rapid container adoption and broad container use among multiple cloud host...
Imagine if you will, a retail floor so densely packed with sensors that they can pick up the movements of insects scurrying across a store aisle. Or a component of a piece of factory equipment so well-instrumented that its digital twin provides resolution down to the micrometer.
The need for greater agility and scalability necessitated the digital transformation in the form of following equation: monolithic to microservices to serverless architecture (FaaS). To keep up with the cut-throat competition, the organisations need to update their technology stack to make software development their differentiating factor. Thus microservices architecture emerged as a potential method to provide development teams with greater flexibility and other advantages, such as the abili...
In his keynote at 18th Cloud Expo, Andrew Keys, Co-Founder of ConsenSys Enterprise, provided an overview of the evolution of the Internet and the Database and the future of their combination – the Blockchain. Andrew Keys is Co-Founder of ConsenSys Enterprise. He comes to ConsenSys Enterprise with capital markets, technology and entrepreneurial experience. Previously, he worked for UBS investment bank in equities analysis. Later, he was responsible for the creation and distribution of life settle...
Product connectivity goes hand and hand these days with increased use of personal data. New IoT devices are becoming more personalized than ever before. In his session at 22nd Cloud Expo | DXWorld Expo, Nicolas Fierro, CEO of MIMIR Blockchain Solutions, will discuss how in order to protect your data and privacy, IoT applications need to embrace Blockchain technology for a new level of product security never before seen - or needed.
As DevOps methodologies expand their reach across the enterprise, organizations face the daunting challenge of adapting related cloud strategies to ensure optimal alignment, from managing complexity to ensuring proper governance. How can culture, automation, legacy apps and even budget be reexamined to enable this ongoing shift within the modern software factory? In her Day 2 Keynote at @DevOpsSummit at 21st Cloud Expo, Aruna Ravichandran, VP, DevOps Solutions Marketing, CA Technologies, was jo...