Navigation Links
Genetic Research Leads to New Discovery in Understanding Rare Neurological Disorder

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

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:
(Date:11/26/2015)... 26, 2015 Research and Markets ( ... Wound Care Market by Type (Dressings, Therapy Devices, Active ... Facility, Out-Patient Facility), and Geography - Global Forecast to ... --> --> The purpose of ... forecast of the global advanced wound care market. It ...
(Date:11/26/2015)... 26, 2015 Research and Markets ( ... "2016 Future Horizons and Growth Strategies in ... Shares, Country Segment Forecasts, Competitive Intelligence, Emerging Opportunities" ... --> --> This new ... Italian therapeutic drug monitoring market, including emerging tests, ...
(Date:11/25/2015)... Nov. 26, 2015  The total global healthcare industry is ... 2015-2016. Latin America has the highest ... (excluding Japan ), is second with growth ... to face increased healthcare expenditure. In 2013-2014, total government funded ... 43.5% in 2008-2009 to 41.2% in 2013-2014. In real terms, ...
Breaking Medicine Technology:
(Date:11/27/2015)... , ... November 27, 2015 , ... ... the toilets were," said an inventor from Hillside, N.J. "Many people catch diseases ... cover so that individuals will always be protected from germs." , He developed ...
(Date:11/27/2015)... ... November 27, 2015 , ... Consistent with the ... 2016 Building Better Radiology Marketing Programs meeting will showcase some of the ... 2016, at Caesars Palace in Las Vegas with a pre-conference session on a ...
(Date:11/27/2015)... Los Angeles, CA (PRWEB) , ... November 27, 2015 , ... ... the Commission on Accreditation of Allied Health Education Programs (CAAHEP) awarded accreditation to its ... exclusive list of CAAHEP accredited colleges, as only one of twelve colleges and universities ...
(Date:11/26/2015)... Marne, MI (PRWEB) , ... November 26, 2015 ... ... center for substance abuse located in central Michigan, have come together on Thanksgiving ... a specially produced video, available for viewing on the Serenity Point YouTube channel, ...
(Date:11/26/2015)... ... November 26, 2015 , ... Jobs in hospital medical laboratories and ... offered by healthcare staffing agency Aureus Medical Group . These fields, ... 2015 among those searching for healthcare jobs through the company’s website, ...
Breaking Medicine News(10 mins):