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 gen
'/>"/>

SOURCE Dystonia Medical Research Foundation
Copyright©2009 PR Newswire.
All rights reserved

Page: 1 2

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:12/24/2014)... , Dec. 23, 2014  Medical Science Liaisons ... the key link between the medical device industry and ... more in the coming years as the device industry ... According to research by benchmarking firm, Best Practices, ... gain an important edge is by harnessing new technology ...
(Date:12/22/2014)... , Dec. 22, 2014   TRU-D SmartUVC ... no-touch UV disinfection robot, announced today that the General ... contract through November 2019.   This newly ... engage all levels of government purchasers, including Department of ... well as Homeland Security contacts purchasing solutions for the ...
(Date:12/22/2014)... MARLBOROUGH, Mass , Dec. 22, 2014 /PRNewswire/ -- ... a biotechnology company focused on discovering, developing and ... using RNA-targeted technologies, today issued the following open ... Geert Cauwenbergh , Dr. Med. Sc. ... few days a number of inaccurate statements posted ...
Breaking Medicine Technology:Role of Medical Science Liaisons Evolving in Medical Device Sector 2TRU-D SmartUVC LLC Awarded General Services Administration Contract to Expand Government Customer Base 2RXi Pharmaceuticals Issues Open Letter to Shareholders 2RXi Pharmaceuticals Issues Open Letter to Shareholders 3RXi Pharmaceuticals Issues Open Letter to Shareholders 4RXi Pharmaceuticals Issues Open Letter to Shareholders 5RXi Pharmaceuticals Issues Open Letter to Shareholders 6
... Inc.(Nasdaq: MSHL ), an oncology company focused on ... today that it will host its Annual Meeting of Stockholders ... offices of Morgan, Lewis & Bockius LLP, located at 101 ... vote on certain matters, including the approval of the transactions ...
... 10, 2011 Eli Lilly and Company (NYSE: ... Ph.D., will lead Lilly,s oncology research efforts as the vice ... research. In this innovative new role created by ... of both Lilly and its subsidiary, ImClone. Plowman will be ...
Cached Medicine Technology:Marshall Edwards to Host Annual Meeting of Stockholders 2Marshall Edwards to Host Annual Meeting of Stockholders 3Lilly Announces New Vice President of Oncology Research 2Lilly Announces New Vice President of Oncology Research 3
(Date:12/25/2014)... (PRWEB) December 26, 2014 The ... Analysis to 2023” focuses on the current treatment ... in the colorectal cancer market. Stivarga is a ... colon or rectal cancer. Boehringer Ingelheim is developing ... the treatment of refractory CRC in the US, ...
(Date:12/25/2014)... Recently, Dylan Queen, a famous online company supplying ... of discounted prom dresses, most of which are priced ... the company, the promotion is valid until Jan. 22, ... the UK market. , The prom dresses in this ... styles: A-line strapless, empire strapless chiffon, one shoulder, floor-length, ...
(Date:12/25/2014)... When head lice hits a home or school, parents ... rid of it while keeping it from taking over the ... the solution right in their neighborhood: Lice Troopers . ... full spectrum head lice screening and treatment services to families ... Biscayne, Brickell, Coconut Grove, Kendall, Pinecrest and South Miami. , ...
(Date:12/25/2014)... 2014 (HealthDay News) -- Among early stage breast cancer ... half of one percent will eventually develop leukemia as ... The finding comes from a review of more ... 2007, and it suggests that the risk for developing ... had previously thought. "The frequency of bone marrow ...
(Date:12/25/2014)... December 25, 2014 Plugin creators from ... 5k. A fully customizable business presentation tool made specifically ... the ProFire 5k business tool, users can now display ... CEO of Pixel Film Studios. “ProFire 5k gives users ... to add professionalism to a presentation” , Pixel Film ...
Breaking Medicine News(10 mins):Health News:Nintedanib Colorectal Cancer Market Analysis and Forecast to 2023 Report at RnRMarketReserach.com 2Health News:Nintedanib Colorectal Cancer Market Analysis and Forecast to 2023 Report at RnRMarketReserach.com 3Health News:Nintedanib Colorectal Cancer Market Analysis and Forecast to 2023 Report at RnRMarketReserach.com 4Health News:Dylan Queen: Cheap Prom Dresses for the UK Market 2Health News:Coral Gables Florida Gets Ready to Be Lice-Free with Lice Troopers 2Health News:Breast Cancer Chemo Tied to Small But Significant Leukemia Risk 2Health News:Breast Cancer Chemo Tied to Small But Significant Leukemia Risk 3Health News:Announcing a new ProFire 5k plugin from Pixel Film Studios for Final Cut Pro X Professionals 2
... . , Montreal, January 14, 2009 Canadian researchers ... cancer. According to a recent study from the Universit de ... Journal of Biological Chemistry , the protein ARF1 plays a ... tumours. Targeting this protein with drug therapy may provide hope ...
... Only Non-Drowsy Allergy Medicine in a Liquid-Filled Capsule ... 14 Schering-Plough Corporation (NYSE: SGP ... Liqui-Gels(R), the first and only non-drowsy allergy medicine ... CLARITIN(R) Liqui-Gels(R) provide powerful liquid relief for the ...
... affected by chronic inflammation without knowing much about it. FlameEz.com is ... inflammation, the root cause of many of the most feared illnesses ... ... PA (PRWEB) January 14, 2009 -- Millions of Americans are affected ...
... N.C., Jan. 14 Germs are everywhere,and especially dangerous ... can age hands, ignite near flame and make kids ... www.remi-d.com ) dispenses with these maladies with subtle,scents, convenience ... sanitizers have been sick with laziness. Remi-D is ...
... Va., Jan. 14 ... solutions for healthcare, announced that the Unbound(TM) Platform ... iPod(R) touch devices. Adding delivery of iPhone applications ... Palm OS devices strengthens Unbound Medicine,s position as ...
... Specialty Line for Tweens and TeensCARLSBAD, Calif., Jan. 14 ... ages clarifying products that are 100% natural and ultra-effective ... The products include the Everyday Clarifying Lotion, Everyday Clarifying ... be debuting at the New York International Gift Fair, ...
Cached Medicine News:Health News:New Non-Drowsy CLARITIN(R) Liqui-Gels(R) Now Available 2Health News:New Non-Drowsy CLARITIN(R) Liqui-Gels(R) Now Available 3Health News:Control of Inflammation May Benefit Many of the Most Feared Illnesses in Middle and Old Age 2Health News:Control of Inflammation May Benefit Many of the Most Feared Illnesses in Middle and Old Age 3Health News:No Germs, No Fires, No Mess: New Product Makes Good Health Easy and Natural 2Health News:Unbound Medicine Announces Download Support for iPhone(TM) and iPod(R) Touch Devices 2Health News:Glory for Girls Announces All-Natural Clarifying Products for Clear and Radiant Skin 2
... of flexible lighting products. The first is ... different sizes 5", 10", and 15" (refers ... light). These lights are for use in ... ,The second group of flexible lights is ...
... two groups of flexible lighting products. The ... in three different sizes 5", 10", and ... of the light). These lights are for ... needed., ,The second group of flexible ...
... Aaron manufactures two groups of flexible lighting ... and non-sterile in three different sizes 5", ... shaft portion of the light). These lights ... light is needed., ,The second group ...
Designed to be used for neuromuscular blockage monitoring. Provides for easy placement over the ulnar nerve on a patient's wrist. Dual element permits non-invasive monitoring using a single electrode...
Medicine Products: