Navigation Links
Genetic Research Leads to New Discovery in Understanding Rare Neurological Disorder
Date:2/2/2009

NEW YORK, Feb. 2 /PRNewswire-USNewswire/ -- A study led by Laurie Ozelius, Ph.D. at Mount Sinai School of Medicine has identified a gene associated with the development of primary torsion dystonia, also known as DYT6 dystonia. With funding provided by the Dystonia Medical Research Foundation (DMRF), Dr. Ozelius and her colleagues have found that mutations in the THAP1 gene cause DYT6 dystonia in Amish-Mennonite families, as well as in other ethnic groups.

Dystonia is a neurological movement disorder characterized by sustained, uncontrolled muscle contractions and spasms. There are multiple forms affecting men, women, and children of all ages and backgrounds. More than 300,000 people in North America are estimated to have some form of dystonia. There is no cure.

Since the pathogenic mechanisms of primary torsion dystonias are very poorly understood any new information about genetic causes of these diseases is desperately needed to facilitate new studies toward the understanding of those mechanisms. The newly discovered DYT6 gene and protein can now be used as drug discovery targets.

"Primary torsion dystonia are rare and devastating diseases," explains the Foundation's Science Officer, Dr. Jan Teller. "This is the second gene identified for this type of dystonia. Its discovery will greatly contribute to our knowledge about molecular mechanism of all the dystonias."

"We are greatly excited about Dr. Ozelius's findings, as they will help us to better understand the many different factors responsible for this puzzling and disabling disorder," says Dr. Mahlon DeLong, Scientific Director of the Foundation. "Dr. Ozelius has been a pioneer in genetic research on dystonia and we are grateful for her unwavering commitment to this and the broader dystonia community."

"I am grateful to the Foundation for their support of this research," adds Dr. Ozelius. "The DMRF has supported gene identification studies throughout its history and has been a leader in recognizing that these studies represent an important first step leading to molecular insights into the disease."

The Dystonia Medical Research Foundation is dedicated to advancing research for more treatments and ultimately a cure, promoting awareness and education, and supporting the needs and well being of affected individuals and families. The Dystonia Medical Research Foundation can be reached at 1-800-377-3978 or www.dystonia-foundation.org.


'/>"/>
SOURCE Dystonia Medical Research Foundation
Copyright©2009 PR Newswire.
All rights reserved

Related medicine technology :

1. Harvard Medical School-Partners HealthCare Center for Genetics and Genomics Successfully Completes Evaluation of AutoGenomics 2C9-VKORC1 Panel to Assess Warfarin Sensitivity
2. Harvard Medical School-Partners HealthCare Center for Genetics and Genomics Successfully Completes Evaluation of AutoGenomics 2C9-VKORC1 Panel to Assess Warfarin Sensitivity
3. Genetics Determine Optimal Drug Dose of Common Anticoagulant
4. CellCyte Genetics Corp. Enters Collaborative Research Agreement With Cleveland Clinic Foundation to Qualify Stem Cell Delivery in Damaged Heart Tissue
5. Targeted Genetics Reports on Recombinant DNA Advisory Committee (RAC) Review of its Phase 1/2 Trial of tgAAC94 for Rheumatoid Arthritis
6. Genetic Differences Predict Anti-Inflammatory Benefits From Nutritional Products
7. 454 Sequencing(TM) in Science Today: Researchers Uncover a Genetic Basis for Different Social Behaviors in Wasps
8. deCODE Launches deCODE MI(TM) -- A Test for a Major Genetic Risk Factor for Early-onset Heart Attack
9. Preimplantation Genetic Diagnosis International Society Refutes American Society of Reproductive Medicine Opinion - States Preimplantation Genetic Screening is Beneficial When Performed in Experienced Centers
10. American Fertility Association Calls for Expanded Research to Advance New Technology to Screen Embryos for Genetic Abnormalities
11. Groundbreaking Study Proves Personalized Diet Based on Genetics Leads to Significant Advances in Long Term Weight Management and Blood Glucose Levels
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/7/2016)... 7, 2016  Ionis Pharmaceuticals, Inc. (NASDAQ: IONS ), ... a company overview at the BMO Capital Markets Prescriptions for Success ... NY . A live webcast of the presentation ... Ionis website.  The replay will be available within 48 hours and ... ...
(Date:12/7/2016)... December 7, 2016 The ... a value of USD 3.9 billion by 2024, ... Research, Inc. The growth of the market is ... continuous technological advancements by the market players. Demand ... to increasing donation, rising awareness about transfusion-transmitted diseases, ...
(Date:12/6/2016)... , Dec. 6, 2016 Radioisotopes are ... Radioisotopes are produced either by using nuclear research reactor ... the form of alpha, beta or gamma when changed ... are used in Nuclear medicine, specifically in medical diagnostics. ... diagnostic information about a human body,s functioning. Radiotherapy is ...
Breaking Medicine Technology:
(Date:12/7/2016)... ... December 07, 2016 , ... ... announce that its fully redesigned website, which launched October 17, 2016, features comprehensive ... responsive design and easy-to-navigate layout. Visitors and patients can discover the latest clinical ...
(Date:12/7/2016)... Arizona (PRWEB) , ... December 07, 2016 , ... Delete® ... Just in Time For The Holiday Party Season. Save Up To 33% Off Botox® ... Laser Salon is providing the Phoenix Valley with Delightful Deals on Botox® ...
(Date:12/7/2016)... ... December 07, 2016 , ... ... Campaign Winner in the Folio: Marketing Awards competition. Live From won in the ... in pioneering, inventive, and ultimately successful projects undertaken by the media industry’s most ...
(Date:12/7/2016)... ... ... "ProBrand Flip allows FCPX editors to create unique logo reveals which can ... Film Studios. , ProBrand Flip includes 30 flip book reveal animations. Easily reveal any ... variety of flip book animations. In Addition, users can modify each preset to fit ...
(Date:12/7/2016)... ... December 07, 2016 , ... ... WellnessPro Plus for consumers and healthcare professionals to manage chronic and acute ... the treatment modalities available in a single device. The announcement is part ...
Breaking Medicine News(10 mins):