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
DevOps is being widely accepted (if not fully adopted) as essential in enterprise IT. But as Enterprise DevOps gains maturity, expands scope, and increases velocity, the need for data-driven decisions across teams becomes more acute. DevOps teams in any modern business must wrangle the ‘digital exhaust’ from the delivery toolchain, "pervasive" and "cognitive" computing, APIs and services, mobile devices and applications, the Internet of Things, and now even blockchain.
WebRTC is the future of browser-to-browser communications, and continues to make inroads into the traditional, difficult, plug-in web communications world. The 6th WebRTC Summit continues our tradition of delivering the latest and greatest presentations within the world of WebRTC. Topics include voice calling, video chat, P2P file sharing, and use cases that have already leveraged the power and convenience of WebRTC.
Security, data privacy, reliability and regulatory compliance are critical factors when evaluating whether to move business applications from in-house client hosted environments to a cloud platform. In her session at 18th Cloud Expo, Vandana Viswanathan, Associate Director at Cognizant, In this session, will provide an orientation to the five stages required to implement a cloud hosted solution validation strategy.
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...
Cloud Expo, Inc. has announced today that Aruna Ravichandran, vice president of DevOps Product and Solutions Marketing at CA Technologies, has been named co-conference chair of DevOps at Cloud Expo 2017. The @DevOpsSummit at Cloud Expo New York will take place on June 6-8, 2017, at the Javits Center in New York City, New York, and @DevOpsSummit at Cloud Expo Silicon Valley will take place Oct. 31-Nov. 2, 2017, at the Santa Clara Convention Center in Santa Clara, CA.
With 10 simultaneous tracks, keynotes, general sessions and targeted breakout classes, Cloud Expo and @ThingsExpo are two of the most important technology events of the year. Since its launch over eight years ago, Cloud Expo and @ThingsExpo have presented a rock star faculty as well as showcased hundreds of sponsors and exhibitors! In this blog post, I provide 7 tips on how, as part of our world-class faculty, you can deliver one of the most popular sessions at our events. But before reading the...
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.
With major technology companies and startups seriously embracing Cloud strategies, now is the perfect time to attend @CloudExpo | @ThingsExpo, June 6-8, 2017, at the Javits Center in New York City, NY and October 31 - November 2, 2017, Santa Clara Convention Center, CA. Learn what is going on, contribute to the discussions, and ensure that your enterprise is on the right path to Digital Transformation.
Bert Loomis was a visionary. This general session will highlight how Bert Loomis and people like him inspire us to build great things with small inventions. In their general session at 19th Cloud Expo, Harold Hannon, Architect at IBM Bluemix, and Michael O'Neill, Strategic Business Development at Nvidia, discussed the accelerating pace of AI development and how IBM Cloud and NVIDIA are partnering to bring AI capabilities to "every day," on-demand. They also reviewed two "free infrastructure" pr...
Have you ever noticed how some IT people seem to lead successful, rewarding, and satisfying lives and careers, while others struggle? IT author and speaker Don Crawley uncovered the five principles that successful IT people use to build satisfying lives and careers and he shares them in this fast-paced, thought-provoking webinar. You'll learn the importance of striking a balance with technical skills and people skills, challenge your pre-existing ideas about IT customer service, and gain new in...
TechTarget storage websites are the best online information resource for news, tips and expert advice for the storage, backup and disaster recovery markets. By creating abundant, high-quality editorial content across more than 140 highly targeted technology-specific websites, TechTarget attracts and nurtures communities of technology buyers researching their companies' information technology needs. By understanding these buyers' content consumption behaviors, TechTarget creates the purchase inte...
With major technology companies and startups seriously embracing Cloud strategies, now is the perfect time to attend @CloudExpo | @ThingsExpo, June 6-8, 2017, at the Javits Center in New York City, NY and October 31 - November 2, 2017, Santa Clara Convention Center, CA. Learn what is going on, contribute to the discussions, and ensure that your enterprise is on the right path to Digital Transformation.
In the first article of this three-part series on hybrid cloud security, we discussed the Shared Responsibility Model and examined how the most common attack strategies persist, are amplified, or are mitigated as assets move from data centers to the cloud. Today, we’ll look at some of the unique security challenges that are introduced by public cloud environments. While cloud computing delivers many operational, cost-saving and security benefits, it takes place in a public, shared and on-demand ...
@DevOpsSummit at Cloud taking place June 6-8, 2017, at Javits Center, New York City, is co-located with the 20th 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 no time to wait for long developm...
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, will highlight the current challenges of these transformative technologies and share strategies for preparing your organization for these changes. This “view from the top” will outline the latest trends and developm...