Duchenne muscular dystrophy - DMD - Biotech, Pharma and Life Science Channel
Duchenne muscular dystrophy (DMD) is a severely debilitating childhood neuromuscular disease that affects 1 in 3,500 live male births. This rare disease is caused by mutations in the dystrophin gene, resulting in the absence or defect of the dystrophin protein. As a result, patients suffer from progressive loss of muscle strength, often rendering them wheelchair-bound before the age of 12. Respiratory and cardiac muscle can also be affected by the disease and most patients die in early adulthood due to respiratory and cardiac failure.
News Articles
CAMBRIDGE, MA -- (Marketwired) -- 06/19/13 -- Sarepta Therapeutics, Inc. (NASDAQ: SRPT), a developer of innovative RNA-based therapeutics, today announced updated data from Study 202, a Phase IIb ope...
PsychoGenics and Sunovion Pharmaceuticals Inc. Expand Their Drug Discovery Partnership
PsychoGenics Inc. and Sunovion Pharmaceuticals Inc. announced that they have expanded the scope of their CNS drug discovery partnership and extended the agreement for another two...
HOUSTON, June 13, 2013 /PRNewswire/ -- Thanks to today's U.S. Supreme Court decision opening the door to greater access to genetic medicine by American patients and their health care providers, t...
PPMD to Release Results of First-Ever Duchenne Community Benefit/Risk Survey
HACKENSACK, N.J., June 11, 2013 /PRNewswire-USNewswire/ -- Parent Project Muscular Dystrophy (PPMD) – the nation's leading voice for patients and families impacted by Duchenne muscular dyst...
CAMBRIDGE, MA -- (Marketwired) -- 06/05/13 -- Sarepta Therapeutics (NASDAQ: SRPT), a developer of innovative RNA-based therapeutics, announced today that it is scheduled to present at the Wells Fargo...
Claim that statins damage muscles 'overblown'
"Statins could lead to muscular injuries, scientists warn,” reports The Daily Telegraph. The headline is based on a new study looking at whether statins – drugs used to reduce blood choles...
RTI Biologics Inc. (RTI) (Nasdaq: RTIX), a leading provider of orthopedic and other biologic implants, recently donated 35 bone allograft implants to Lemoyne, Pa.-based CUR...
Prosensa Holding B.V. Files Registration Statement for Proposed Initial Public Offering
Leiden, the Netherlands—May 28, 2013 — Prosensa Holding B.V., today announced that it has filed a registration statement on Friday May 24, 2013 on Form F-1 with the U.S. Securities an...
Superior Controls of Seabrook, NH named Business of the Year for 2013 by Business NH Magazine
SEABROOK, N.H., May 22, 2013 /PRNewswire/ -- Superior Controls, Inc. has been named "Manufacturing/Technology Business of the Year 2013" by Business NH Magazine. For the past 22 years, the...
Maryland Stem Cell Research Commission Funds 31 New Research Proposals in FY 2013
COLUMBIA, Md., May 21, 2013 /PRNewswire/ -- The Maryland Stem Cell Research Commission (Commission) has completed its review of the 171 applications received in response to its FY 2013 Requests f...
Events
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Companies
Retrophin is a biotechnology company focused on discovering and developing treatments for rare and life-threatening diseases. Retrophin is currently developing treatments for foca...
Tivorsan Pharmaceuticals http://www.tivorsan.com is a protein therapeutics company pioneering a unique approach to treating serious neuromuscular disorders, including DMD and Beck...
Founded in Southern Oregon in 1992 by brothers Dane and Travis Boersma, Dutch Bros. Coffee is the countryâs largest privately-held, drive-thru coffee company. There are nearl...
Tobii Assistive Technology Inc.
Tobii Assistive Technology Inc., a wholly owned subsidiary of Tobii Technology, is a leading provider of eye-tracking-based augmented and alternative communication (AAC) devices t...
PsychoGenics is a leader in preclinical behavioral neurobiology. The Company applies its behavioral expertise together with advances in robotics, computer vision, and informatics...
California Stem Cell, Inc. is a privately held company focused on the manufacture of high-purity human cells for therapeutic development and screening applications. Since its foun...
Based in Kingston, MA the Jett Foundation is a non-profit organization dedicated to increasing worldwide awareness of Duchenne Muscular Dystrophy with the purpose of raising and a...
Cure Duchenne, a national nonprofit organization located in Newport Beach, Calif., is gaining international attention for its efforts to raise funds and awareness for Duchenne â...
Tivorsan Pharmaceuticals, Inc.
Tivorsan Pharmaceuticals, Inc. is a protein therapeutics company pioneering a unique approach to treating serious neuromuscular disorders, including DMD and Becker Muscular...
Innovative RNA-Based Technology; First-in-Class Therapeutics Sarepta Therapeutics – formerly AVI BioPharma – remains focused on developing first-in-class, RNA-based therapeutics to imp...
Clinical Trials
myoARRAY and TcLandscape Analysis for the Diagnosis of Inflammatory Myopathies
The diagnosis of the different forms of inflammatory myopathies (polymyositis, dermatomyositis, inclusion-body myositis...) remains difficult which may lead to unappropriate patient care....
Botox as a Treatment for Chronic Male Pelvic Pain Syndrome
Chronic pelvic pain syndrome (CPPS) is thought to affect approximately 8% of men aged 18 and older. Patients with this condition experience pain in the perineum, the genitalia, and the rec...
Function-Related Tests for Subjects With Stiff Shoulders: Reliability and Validity
Background: Shoulder-related dysfunction (SD) is a common health problem in various patient populations. SD can affect an individual's ability to function independently, consequently decr...
Mobilization Techniques in Patients With Frozen Shoulder: a Randomized Multiple-Treatment Trial
Background: Frozen shoulder syndrome (FSS) or adhesive capsulitits, a condition of uncertain etiology characterized by a progressive loss of both active and passive shoulder motion, is one...
Safety and Efficacy Study of Antisense Oligonucleotides in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD), a fatal muscle degenerative disorder, arises from mutations in the dystrophin gene. Antisense therapy with the use of antisense oligonucleotides (AON) ha...
This study will examine the role of the spinal cord in improving leg movements after physical training in healthy people. The results of this study may be helpful in developing new rehabil...
Measuring Levels of SMN in Blood Samples of SMA Patients
Spinal muscular atrophy (SMA) is a disorder that affects the motor neurons. SMA is caused by a mutation in a part of the DNA called the survival motor neuron (SMN1) gene, which normally p...
This study will evaluate whether docosahexaenoic acid (DHA) dietary supplementation can improve macular function in patients with Stargardt macular dystrophy and Stargardt-like macular dys...
Dextromethorphan to Treat Patients With Voice Spasms
This study will examine how dextromethorphan, a drug that alters reflexes of the larynx (voice box), might change voice symptoms in people with voice disorders due to uncontrolled laryngea...
Study of Proteins Associated With Complex Regional Pain Syndrome
This study will try to learn more about complex regional pain syndrome, or CRPS (previously known as reflex sympathetic dystrophy, spreading neuralgia, and sympathalgia), by examining the...
PubMed Articles
Myotonic dystrophy type 1 (DM1): A triplet repeat expansion disorder.
Myotonic dystrophy is a progressive multisystem genetic disorder affecting about 1 in 8000 people worldwide. The unstable repeat expansions of (CTG)n or (CCTG)n in the DMPK and ZNF9 genes cause the tw...
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most commonly inherited neuromuscular disease. However, accurate and convenient molecular diagnosis cannot be achieved easily because of the...
BACKGROUND: Posterior lamellar keratoplasty, in the form of Descemet membrane endothelial keratoplasty (DMEK) and Descemet stripping automated endothelial keratoplasty (DSAEK), has become a standard p...
Spinal muscular atrophy (SMA), a primarily childhood form of motor neuron disease, is caused by reduced levels of a single, ubiquitously expressed protein: the survival motor neuron (SMN) protein. Low...
Effects of viewing affective pictures on sEMG activity of masticatory and postural muscles.
Recently there has been an upsurge of interest in the question to what extent the human motor control system is influenced by the emotional state of the actor. The aim of this study was to evaluate wh...
From lamins to lamina: a structural perspective.
Lamin proteins are the major constituents of the nuclear lamina, a proteinaceous network that lines the inner nuclear membrane. Primarily, the nuclear lamina provides structural support for the nucleu...
Larval development of the feline lungworm Aelurostrongylus abstrusus in Helix aspersa.
The cat lungworm Aelurostrongylus abstrusus affects the domestic cat and other felids all over the world. Feline aelurostrongylosis is of importance in clinical feline medicine and is gaining more and...
Clinical and skeletal muscle biopsy characteristics of 25 patients with floppy infant syndrome.
Aims: Floppy infant syndrome (FIS) comprises of a group of disorders with a common symptom of generalized hypotonia at birth or in early life, which causes diagnostic challenge. In the current work, w...
Purpose: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, with nanophthalmos and macular folds. Methods: Ophthalmological examination, general paediatric examin...
Assessing dystrophies and other muscle diseases at the nanometer scale by atomic force microscopy.
Aim: Atomic force microscopy nanoindentation of myofibers was used to assess and quantitatively diagnose muscular dystrophies from human patients. Materials & methods: Myofibers were probed from fresh...
Videos
BrainPOP animation about Duchenne Muscular Dystrophy
BrainPOP's beloved animated duo, Tim and Moby, present the topic of Duchenne in this short, animated movie. Produced in partnership with Parent Project Muscu...
Medical and Biotech [MESH] Definitions
Abdominal Wall
The outer margins of the ABDOMEN, extending from the osteocartilaginous thoracic cage to the PELVIS. Though its major part is muscular, the abdominal wall consists of at least seven layers: the SKIN, subcutaneous fat, deep FASCIA; ABDOMINAL MUSCLES, transversalis fascia, extraperitoneal fat, and the parietal PERITONEUM.
Poly(a)-binding Protein Ii
A poly(A) binding protein that is involved in promoting the extension of the poly A tails of MRNA. The protein requires a minimum of ten ADENOSINE nucleotides in order for binding to mRNA. Once bound it works in conjunction with CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR to stimulate the rate of poly A synthesis by POLY A POLYMERASE. Once poly-A tails reach around 250 nucleotides in length poly(A) binding protein II no longer stimulates POLYADENYLATION. Mutations within a GCG repeat region in the gene for poly(A) binding protein II have been shown to cause the disease MUSCULAR DYSTROPHY, OCULOPHARYNGEAL.
Muscular Dystrophy, Oculopharyngeal
An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.
Retinoschisis
A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis.
Felidae
The cat family in the order CARNIVORA comprised of muscular, deep-chested terrestrial carnivores with a highly predatory lifestyle.
