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:6/23/2016)... Capricor Therapeutics, Inc. ... company focused on the discovery, development and commercialization ... in its ongoing randomized HOPE-Duchenne clinical trial (Halt ... its 24-patient target. Capricor expects the trial to ... 2016, and to report top line data from ...
(Date:6/23/2016)... Ill. and INDIANAPOLIS , ... students receiving a Lilly Diabetes Tomorrow,s Leaders Scholarship is ... 2016 scholarship winners, announced today online at www.diabetesscholars.org ... let type 1 diabetes stand in the way of ... has supported the Foundation,s scholarship program since 2012, and ...
(Date:6/23/2016)... , June 23, 2016 The vast majority ... outpatient dialysis facility.  Treatments are usually 3 times a ... per visit, including travel time, equipment preparation and wait ... but especially grueling for patients who are elderly and ... skilled nursing and rehabilitation centers for some duration of ...
Breaking Medicine Technology:
(Date:6/25/2016)... ... ... Austin residents seeking Mohs surgery services, can now turn to Dr. Jessica ... Peckham for medical and surgical dermatology. , Dr. Dorsey brings specialization to include Mohs ... Mohs Micrographic Surgery completed by Dr. Dorsey was under the direction of Glenn Goldstein, ...
(Date:6/25/2016)... ... June 25, 2016 , ... As a lifelong Southern Californian, Dr. Omkar Marathe ... from the David Geffen School of Medicine at UCLA. He trained in Internal Medicine ... his fellowship in hematology/oncology at the UCLA-Olive View-Cedars Sinai program where he had the ...
(Date:6/24/2016)... ... ... A recent article published June 14 on E Online details ... to state that individuals are now more comfortable seeking to undergo not only the ... and cheek reduction. The Los Angeles area medical group, Beverly Hills Physicians (BHP) notes ...
(Date:6/24/2016)... ... 2016 , ... The Pulmonary Hypertension Association (PHA) learned during ... two significant new grants to support its work to advance research and patient ... recognizing patients, medical professionals and scientists for their work in fighting pulmonary hypertension ...
(Date:6/24/2016)... ... ... makers of Topricin and MyPainAway Pain Relief Products, join The ‘Business for a Fair Minimum ... by 2020 and then adjusting it yearly to increase at the same rate as the ... wage floor does not erode again, and make future increases more predictable. , The company ...
Breaking Medicine News(10 mins):