Navigation Links
Targeting Specific Mutations Reveals Promising New Approach to,Treating Genetic Disorders; Preclinical Data Published in Nature

p>Genetic disorders, such as DMD and cystic fibrosis (CF) are caused by genetic alterations, known as mutations. By targeting a specific type of genetic alteration -- nonsense mutations -- PTC124 bypasses the defect and leads to the restoration of a functional protein. The Nature paper highlights the data obtained from PTC's work in a mouse model of DMD in which a nonsense mutation precludes the production of dystrophin. Loss of functional dystrophin, an important muscle protein involved in maintaining the strength of muscle fibers, results in DMD. The data demonstrate that PTC124 allows dystrophin to be made in cells in which it was previously absent, to be delivered to the proper cellular location, and to induce restoration of muscle function. In addition to the studies described in the Nature paper, PTC has demonstrated in preclinical studies that PTC124 restores the presence of the missing protein in CF caused by nonsense mutations. Similar to the effect in DMD, PTC124 induces production of CFTR (the missing protein in CF).

The paper entitled, "PTC124 targets genetic disorders caused by nonsense mutations" is available in an advanced online publication of Nature on Sunday, April 22nd (http://www.nature.com). This publication is the result of collaborative efforts between PTC Therapeutics, the University of Pennsylvania School of Medicine, and the University of Massachusetts Medical School.

About PTC124

PTC124 is an orally delivered investigational new drug in Phase 2 clinical development for the treatment of genetic disorders due to nonsense mutations. Nonsense mutations are single-point alterations in the genetic code that introduce premature stop codons in RNA, which halt the translation process, producing a shortened, non-functional protein. PTC124 has demonstrated activity in preclinical genetic disease models harboring nonsense mutations, allowing the readthrough of premature stop co
'"/>




Page: 1 2 3 4

Related medicine technology :

1. Gene Therapy Eradicates Pancreatic Cancer in Preclinical Trial Targeting Systems Success in Mouse Model Reported in Cancer Cell
2. Pieris Progresses Development of its Proprietary Biotherapeutics Platform: Successful Demonstration of Dual Targeting With Duocalin(R) Technology
3. Abraxis BioScience Presents Pre-Clinical Findings That Support Role of SPARC Expression in Cancer and the Role of the Nanoparticle Albumin Bound (nab) Technology Platform in Targeting the Pathway
4. Micromet and MedImmune Present Data From Preclinical Study of New BiTE Molecule Targeting CEA
5. DNA Therapeutics Reports a Novel Mechanism of Action and a Biomarker of its Lead Molecule Dbait That Open an Innovative Pathway-Targeting in Molecular Cancer Therapy
6. Cell Genesys Reports GVAX Immunotherapy for Prostate Cancer Induces a Broad, Patient-Specific Antibody Response
7. Pieris Demonstrates Potent Anti-Tumor Activity of a VEGF-Specific Anticalin in Preclinical Studies
8. Largest National U.S. Healthcare Facility MRSA Study Reveals Infection Rates Eight Times Greater Than Previous Estimates
9. Waismann Method Survey Reveals Dependency Risk for People Using Suboxone
10. New Study Reveals Limitations of a Complex and Challenging Global Tuberculosis Drug Marketplace
11. Waismann Method Survey Reveals 65 Percent of Women Seeking Opiate Dependency Treatment Are Mothers
Post Your Comments:
(Date:1/23/2015)... , Jan. 23, 2015 A lot of discussion in ... for treating  certain illnesses, injuries, or conditions. As medical science ... treatment methods with ones that they consider to be more ... is not one textbook method of treatment that stands out ...
(Date:1/23/2015)... Jan. 23, 2015  Northwest Biotherapeutics, Inc. (NASDAQ: NWBO ... therapies for operable and inoperable solid tumor cancers, announced today ... 7 th Annual Phacilitate Immunotherapy Forum in ... Phacilitate will take place on January 26 at 10:30 a.m. ...
(Date:1/23/2015)... , Jan. 23, 2015 /PRNewswire/-- Harwood Feffer LLP ( ... of directors of Advaxis, Inc. ("Advaxis" or the "Company") ... has breached its fiduciary duties to shareholders. ... an investing website reporting that Advaxis had misrepresented the ...
Breaking Medicine Technology:No One-Size-Fits-All Remedy for Hernia Correction 2NW Bio To Present At The 7th Annual Phacilitate Immunotherapy Forum 2NW Bio To Present At The 7th Annual Phacilitate Immunotherapy Forum 3Harwood Feffer LLP Announces Investigation of Advaxis, Inc. 2
... and LOS ANGELES, May 29, 2012   Rapid Fire Marketing ... Official Launch Party for the Vapor Inhaler,s CANNAcig ... San Francisco on June 23-24, 2012 at the Craneway Pavilion. ... model. Otherside Health Management has submitted the product for ...
... May 29, 2012 The Board of Directors ... NSE: SUNPHARMA, BSE: 524715) met today and announced appointment of ... Makov is the former President and CEO of Teva Pharmaceutical ... leaders, and is widely credited with Teva,s emergence as a ...
Cached Medicine Technology:Rapid Fire Marketing: CANNAcig to Sponsor Medical Cannabis Cup 2012 in San Francisco 2Israel Makov Appointed Chairman of Sun Pharma Board 2Israel Makov Appointed Chairman of Sun Pharma Board 3
(Date:1/22/2015)... For over 20 years, Dr. David Cruz of ... area has treated just about every type of injury that can ... for those same twenty-plus years, the team at Doctors on ... the best possible doctor. With the combined breadth of ...
(Date:1/22/2015)... 2015 Joan Lunden, award-winning American journalist, ... the upcoming 32nd Annual Miami Breast Cancer Conference ... Resource®, LLC (PER®) , shares that “a fast-growing, virulent” ... if she had not followed up her clean mammogram ...
(Date:1/22/2015)... 22, 2015 Yesterday, Senator Holly ... and Kristin Olsen (R-Modesto) were honored by the ... advancing biotechnology, biomedical science, medical device and pharmaceutical ... received the “2014 Life Sciences Champion” award from ...
(Date:1/22/2015)... Florida (PRWEB) January 22, 2015 IsoComforter, Inc. ... therapy machine with patented IsoTube design to treat specific body ... introduced the most progressive and easy to use patented cold ... post-operative and sports related orthopedic and muscle injuries. IsoComforter ...
(Date:1/22/2015)... January 22, 2015 Payday lending practices ... communities and cause financial distress to the states that ... at Howard University’s Center on Race and Wealth. , ... economic activity, payday loans at the same time substantially ...
Breaking Medicine News(10 mins):Health News:Industry Leading Chiropractor in Oceanside Joins the Doctors on Liens Network 2Health News:Joan Lunden Reveals Diagnostic Approach That Led To Early Detection;To Keynote 32nd Annual Miami Breast Cancer Conference® 2Health News:Joan Lunden Reveals Diagnostic Approach That Led To Early Detection;To Keynote 32nd Annual Miami Breast Cancer Conference® 3Health News:Joan Lunden Reveals Diagnostic Approach That Led To Early Detection;To Keynote 32nd Annual Miami Breast Cancer Conference® 4Health News:Joan Lunden Reveals Diagnostic Approach That Led To Early Detection;To Keynote 32nd Annual Miami Breast Cancer Conference® 5Health News:Joan Lunden Reveals Diagnostic Approach That Led To Early Detection;To Keynote 32nd Annual Miami Breast Cancer Conference® 6Health News:California Biomedical Community Honors Senator Holly Mitchell, Assemblymembers Susan Bonilla & Kristin Olsen 2Health News:California Biomedical Community Honors Senator Holly Mitchell, Assemblymembers Susan Bonilla & Kristin Olsen 3Health News:IsoComforter Introduces Best of Class Cold Therapy Product to the Worldwide Market 2Health News:Howard University Spotlights the Economic Impact of Payday Lending in Southern States 2
... doctors say sunitinib,s benefits outweigh its risks , , WEDNESDAY, ... sunitinib (Sutent) can cause high blood pressure in patients ... echoes the results of a study published last month ... risk of heart failure among patients with stomach cancer. ...
... Mich. One in four Americans in the hospital right ... get a urinary tract infection from that catheter. All of ... , And with every new case, UTIs will retain ... percent of infections related to hospitalization. , But despite ...
... University of California, San Francisco are reporting significant results ... the safe removal of tumors near language pathways in ... reduces the amount of time a patient must be ... study provides new data that refines scientists understanding of ...
... a non-invasive way to determine the existence and extent ... of pharmacologic strategies to combat the condition. These findings ... published by John Wiley & Sons on behalf of ... (AASLD). The article is also available online at Wiley ...
... most common cause of disability in the United States. ... continues to age, the toll of this disease will escalate. ... burden and its impact on our nations health care and ... by any form of arthritisis critical. , The National Arthritis ...
... of chemicals in red wine grapes may significantly reduce ... a study published recently in the Journal of Agricultural ... present in large amounts in fermented seeds and skins ... ability of bacteria to contribute to tooth decay. Beyond ...
Cached Medicine News:Health News:New Cancer Drug Boosts Blood Pressure 2Health News:New Cancer Drug Boosts Blood Pressure 3Health News:Catheter chaos: Hospitals lag in preventing common infection 2Health News:Catheter chaos: Hospitals lag in preventing common infection 3Health News:Catheter chaos: Hospitals lag in preventing common infection 4Health News:Language centers revealed, brain surgery refined with new mapping 2Health News:Language centers revealed, brain surgery refined with new mapping 3Health News:MRI techniques evolving towards better assessment of liver fibrosis 2Health News:The prevalence and impact of arthritis and other rheumatic conditions in the United States 2Health News:The prevalence and impact of arthritis and other rheumatic conditions in the United States 3Health News:Winemaking waste proves effective against disease-causing bacteria in early studies 2Health News:Winemaking waste proves effective against disease-causing bacteria in early studies 3Health News:Winemaking waste proves effective against disease-causing bacteria in early studies 4
... enzyme immunoassays, designed to meet the working ... allows the user to run set assays ... floating manifold on this strip washer adjusts ... a time. Reliable, compact, and self-contained, offers ...
... miniGene LW is a new plate washing system ... and 384 channel microplates with flat, V-shaped or ... 8 or 16 channel nozzle heads. Simple LCD ... An optional plate stacker is available for the ...
... to 8000 L/day of Type III Laboratory-grade ... to produce up to 8000 L/day of ... feedwater., One Complete Purification and Control Unit, ... centralized system, providing total control of all ...
... Up to 8000 L/day of Type III ... designed to produce up to 8000 L/day ... tap feedwater., One Complete Purification and Control ... a centralized system, providing total control of ...
Medicine Products: