Navigation Links
Molecular Therapy Succeeds in Preventing Craniofacial Birth Defect in Mice
Date:2/6/2008

Research by March of Dimes Grantee Offers Hope for Treatment of Children

WHITE PLAINS, N.Y., Feb. 6 /PRNewswire-USNewswire/ -- A new gene-based technique has successfully prevented a rare craniofacial birth defect in mice and holds promise to help children with the same disorder, according to new research funded in part by the March of Dimes.

The finding, which is being published in the journal Nature Medicine, demonstrates the potential for translating basic research into new treatments, said Michael Katz, M.D., senior vice president for Research and Global Programs at the March of Dimes.

Paul A. Trainor, Ph.D., a March of Dimes research grantee, and a team of scientists at the Stowers Institute for Medical Research in Kansas City, Missouri, demonstrated that they could prevent Treacher Collins syndrome (TCS) in mice by either inactivating a gene associated with the disorder or by inhibiting a protein produced by the gene.

In TCS, mutations in the TCOF1 gene on chromosome 5 causes a high degree of cell death in the embryo, resulting in a deficiency in a cell population called the neural crest that is essential for generating most of the bone and cartilage that make up the head and face. Dr. Trainor's team showed in 2006 that the loss of these cells results in abnormal embryonic development of structures such as the ear, nose, palate, and upper and lower jaws.

About one in 50,000 people is affected by TCS, also called mandibulofacial dysostosis. The condition is characterized by underdeveloped, malformed, or missing facial structures. Severely affected children often require multiple reconstructive surgeries, which may not fully correct the disorder.

In about 60 percent of cases, TCS results from new gene mutations and occurs in people with no history of the disorder in their family. Less frequently, TCS is inherited in an autosomal dominant pattern, meaning that one parent has the disorder and has passed a copy of the mutated gene to the child.

"Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function" by Natalie C. Jones, Paul A Trainor, et al. was published February 3, 2008 online by Nature Medicine, doi:10.1038/nm1725.

The March of Dimes is the leading nonprofit organization for pregnancy and baby health. With chapters nationwide and its premier event, March for Babies(sm), the March of Dimes works to improve the health of babies. For the latest resources and information, visit marchofdimes.com or nacersano.org.


'/>"/>
SOURCE March of Dimes
Copyright©2008 PR Newswire.
All rights reserved

Related medicine technology :

1. BD Announces FDA 510(K) Submission of Rapid Molecular Test to Identify Patients Carrying Staph Superbug Prior to Surgery
2. Preclinical Data on Lead MEK Inhibitor, RDEA119, to be Presented at the 2007 AACR-NCI-EORTC International Conference on Molecular Targets and Cancer Therapeutics
3. Access Pharmaceuticals to Present Data on ProLindac(TM) at the AACR-NCI-EORTC Molecular Targets and Cancer Therapeutics Conference
4. Abbotts m2000(TM) Molecular Diagnostic Instrument and RealTime HIV-1 Test Win Chicago Innovation Award
5. Tapestry Pharmaceuticals Presents Data on TPI 287 at the AACR-NCI-EORTC International Conference on Molecular Targets and Cancer Therapeutics
6. Access Pharmaceuticals Announces Two Poster Presentations Reporting Significant Preclinical Data on ProLindac(TM) at the AACR-NCI-EORTC Molecular Targets and Cancer Therapeutics Conference
7. Study Shows That Low-Molecular Weight Heparin (LMWH) was Associated with Reduced Hospital Costs of Venous Thromboembolism (VTE) Treatment Compared with Unfractionated Heparin (UFH)
8. Study of Pathwork Diagnostics Tissue of Origin Test Published in the Journal of Molecular Diagnostics: Investigates Test Reproducibility in Multiple Labs to Determine Primary Tumor in Cancer Cases
9. Beckman Coulter Announces Licensing Agreements for Molecular Tests with National University of Ireland, Galway
10. Molecular Biometrics Hires Denny Sakkas, PhD Renowned Yale Embryologist and International Thought-Leader, as Chief Scientific Officer; Opening U.S. Research Facility
11. EDAP Announces Launch of Clinical Study Combining HIFU and Chemotherapy for Localized Aggressive High Risk Prostate Cancer
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/24/2016)... -- Research and Markets has announced ... Applications, Technologies, Forecasts" report to their offering. ... Smart Skin, Structural Health Monitoring, Composite Smart Structures, ... involves electronic and/or electrical components and circuits that ... such as vehicle bodies or conformally placed upon ...
(Date:6/24/2016)... Research and Markets has announced the ... Tests" report to their offering. ... The World Market for Companion Diagnostics covers the ... analysis in the report includes the following: ... Kits) by Region (N. America, EU, ROW), 2015-2020 , ...
(Date:6/24/2016)... Tenn. , June 24, 2016  Arkis ... providing less invasive and more durable cerebrospinal fluid ... in funding.  The Series-A funding is led by ... Lighthouse Fund, and other private investors.  Arkis, new ... neurosurgical instrumentation and the market release of its ...
Breaking Medicine Technology:
(Date:6/26/2016)... (PRWEB) , ... June 26, 2016 , ... Pixel Film ... Pro X. , "Film editors can give their videos a whole new perspective by ... Austin - CEO of Pixel Film Studios. , ProSlice Levels contains over 30 ...
(Date:6/25/2016)... ... June 25, 2016 , ... Austin residents seeking Mohs surgery ... of Mohs Surgery and to Dr. Russell Peckham for medical and surgical dermatology. , ... for skin cancer. The selective fellowship in Mohs Micrographic Surgery completed by Dr. Dorsey ...
(Date:6/25/2016)... ... June 25, 2016 , ... Dr. Calvin ... injury. Recently, he has implemented orthobiologic procedures as a method for treating his ... of the first doctors to perform the treatment. Orthobiologics are substances that orthopaedic ...
(Date:6/24/2016)... ... 2016 , ... June 19, 2016 is World Sickle Cell Observance Day. In ... benefits of holistic treatments, Serenity Recovery Center of Marne, Michigan, has issued ... Sickle Cell Disease (SCD) is a disorder of the red blood cells, which can ...
(Date:6/24/2016)... ... 2016 , ... Comfort Keepers® of San Diego, CA is excited to announce ... program to drive cancer patients to and from their cancer treatments. Comfort Keepers ... of life and ongoing independence. Getting to and from medical treatments is one ...
Breaking Medicine News(10 mins):