Comments
yourfanat wrote: I am using another tool for Oracle developers - dbForge Studio for Oracle. This IDE has lots of usefull features, among them: oracle designer, code competion and formatter, query builder, debugger, profiler, erxport/import, reports and many others. The latest version supports Oracle 12C. More information here.
Cloud Expo on Google News

2008 West
DIAMOND SPONSOR:
Data Direct
SOA, WOA and Cloud Computing: The New Frontier for Data Services
PLATINUM SPONSORS:
Red Hat
The Opening of Virtualization
GOLD SPONSORS:
Appsense
User Environment Management – The Third Layer of the Desktop
Cordys
Cloud Computing for Business Agility
EMC
CMIS: A Multi-Vendor Proposal for a Service-Based Content Management Interoperability Standard
Freedom OSS
Practical SOA” Max Yankelevich
Intel
Architecting an Enterprise Service Router (ESR) – A Cost-Effective Way to Scale SOA Across the Enterprise
Sensedia
Return on Assests: Bringing Visibility to your SOA Strategy
Symantec
Managing Hybrid Endpoint Environments
VMWare
Game-Changing Technology for Enterprise Clouds and Applications
Click For 2008 West
Event Webcasts

2008 West
PLATINUM SPONSORS:
Appcelerator
Get ‘Rich’ Quick: Rapid Prototyping for RIA with ZERO Server Code
Keynote Systems
Designing for and Managing Performance in the New Frontier of Rich Internet Applications
GOLD SPONSORS:
ICEsoft
How Can AJAX Improve Homeland Security?
Isomorphic
Beyond Widgets: What a RIA Platform Should Offer
Oracle
REAs: Rich Enterprise Applications
Click For 2008 Event Webcasts
SYS-CON.TV
Top Links You Must Click On


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

About 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.

Enterprise Open Source Magazine Latest Stories . . .
Chef and Canonical announced a partnership to integrate and distribute Chef with Ubuntu. Canonical is integrating the Chef automation platform with Canonical's Machine-As-A-Service (MAAS), enabling users to automate the provisioning, configuration and deployment of bare metal compute r...
Containers and microservices have become topics of intense interest throughout the cloud developer and enterprise IT communities. Accordingly, attendees at the upcoming 16th Cloud Expo at the Javits Center in New York June 9-11 will find fresh new content in a new track called PaaS...
Plutora provides enterprise release management and test environment SaaS solutions to clients in North America, Europe and Asia Pacific. Leading companies across a variety of industries, including financial services, telecommunications, retail, pharmaceutical and media, rely on Plut...
Docker is an excellent platform for organizations interested in running microservices. It offers portability and consistency between development and production environments, quick provisioning times, and a simple way to isolate services. In his session at DevOps Summit at 16th Cloud ...
The Open Compute Project is a collective effort by Facebook and a number of players in the datacenter industry to bring lessons learned from the social media giant's giant IT deployment to the rest of the world. Datacenters account for 3% of global electricity consumption – about t...
Chef announced that James Casey has been appointed Vice President of Engineering. Casey has more than a decade of experience managing engineering and operations for CERN and is a three-year Chef veteran. Casey brings deep expertise in DevOps practices, as well as an innate understandin...
Subscribe to the World's Most Powerful Newsletters
Subscribe to Our Rss Feeds & Get Your SYS-CON News Live!
Click to Add our RSS Feeds to the Service of Your Choice:
Google Reader or Homepage Add to My Yahoo! Subscribe with Bloglines Subscribe in NewsGator Online
myFeedster Add to My AOL Subscribe in Rojo Add 'Hugg' to Newsburst from CNET News.com Kinja Digest View Additional SYS-CON Feeds
Publish Your Article! Please send it to editorial(at)sys-con.com!

Advertise on this site! Contact advertising(at)sys-con.com! 201 802-3021




SYS-CON Featured Whitepapers
ADS BY GOOGLE