Spinal Muscular Atrophy News and Research

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Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of death among infants and toddlers. Characterized by selective loss of nerve cells in the spinal cord, the disease leads to increasing muscular weakness and atrophy. Over time, patients afflicted by SMA continue to lose muscle control and strength, leading to progressive inability to walk, stand, sit up and breathe. It is estimated that approximately 1 in 6,000 to 1 in 10,000 infants are born annually worldwide with SMA.

iPierian receives $1.5M Basic Biology Award from CIRM to study cellular reprogramming

iPierian, Inc., the leading company focused on creating new therapeutics discovered using cellular reprogramming and directed differentiation of patient cells, today announced that it has been awarded a three-year $1.5 million "Basic Biology Award" from the California Institute of Regenerative Medicine.

30 Apr 2010

MDA awards over $21M in grants for advancing critical neuromuscular research

Forty-two medical researchers and their labs have been awarded more than $21 million in grants by the Muscular Dystrophy Association to advance critical neuromuscular research in 2010. Many of the grants are multi-year awards to be dispersed over the next three years.

15 Apr 2010

UNC Charlotte researcher improves lives of families and children affected by birth defects

Birth defects remain a leading cause of death in the first year of life. According to the March of Dimes, every 3 to 4 minutes a baby is born with a birth defect in the United States. About 1 in every 33 infants is affected by birth defects.

8 Apr 2010

MDA, FFSHR award $200,000 grant for developing FSH dystrophy therapy

The Muscular Dystrophy Association (MDA), headquartered in Tucson, Ariz., and Friends of FSH Research (FFSHR), based in Kirkland, Wash., has jointly awarded a two-year, $200,000 grant to Dr. Joel Chamberlain, a research assistant professor of medical genetics at the University of Washington. The grant, equally funded by the two organizations, will enable the laboratory led by Dr. Chamberlain to study RNA interference as an investigative and therapeutic tool for facioscapulohumeral muscular dystrophy.

7 Apr 2010

MDA awards 42 medical researchers and labs over $21M for critical neuromuscular research

Forty-two medical researchers and their labs have been awarded over $21 million by the Muscular Dystrophy Association to continue critical neuromuscular research. Many of the grants are multi-year awards to be dispersed over the next three years.

1 Apr 2010

Muscular dystrophy: $1M grant for study of erectile dysfunction drugs in improving muscle blood flow

A Cedars-Sinai Heart Institute cardiologist has been awarded a three-year, nearly $1 million grant from the Muscular Dystrophy Association (MDA) to study whether drugs used to treat erectile dysfunction could also be used to improve muscle blood flow and reduce fatigue in muscular dystrophy patients.

26 Mar 2010

SMA Foundation completes biomarker study for Spinal Muscular Atrophy

The Spinal Muscular Atrophy (SMA) Foundation, a nonprofit organization dedicated to accelerating the development of a treatment for SMA, is pleased to announce the completion of a pilot study to identify Biomarkers for Spinal Muscular Atrophy (BforSMA) and the discovery of over 400 candidate biomarkers.

26 Mar 2010

Committee recommends inclusion of genetic diseases in newborn screening program

The experts who make recommendations for genetic disease screening in newborns face a challenging task: To make conclusions based on the most authoritative available evidence, while considering gaps in the research on such rare conditions, as well as their human impact. An overview of the steps followed by the expert panels tasked with making these recommendations is presented in a special section of the current issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

25 Mar 2010

Cardiologist receives grant to study impact of erectile dysfunction drugs on muscular dystrophy patients

25 Mar 2010

Life Technologies' real-time PCR instrument available for IVD use in Europe

Life Technologies Corporation (NASDAQ: LIFE) today announced that its Applied Biosystems 7500 Fast Dx Real-Time PCR Instrument is available as a platform suitable for in vitro diagnostics (IVD) use in Europe. Clinical laboratories from 22 countries and European institutions that develop in vitro molecular diagnostic assays in oncology, genetic disease and infectious disease will now be able to leverage the instrument’s regulatory clearance to develop tests for clinical applications.

24 Mar 2010

Blocking RhoA enzyme increases survival in SMA mouse model

Scientists from the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa have identified a promising new approach for developing drugs to treat Spinal muscular atrophy (SMA), the leading inherited cause of death in infants and toddlers. Dr. Rashmi Kothary and his doctoral student Melissa Bowerman have found that an enzyme called RhoA is overly active in a mouse model of the disease and blocking this enzyme can greatly increase survival. The study is published in Human Molecular Genetics.

16 Mar 2010

New article sheds light on the costs and benefits of screening for SMA

Spinal Muscular Atrophy is one of many serious disorders for which prenatal testing is available. SMA affects approximately 1 in 10,000 live births and is the leading genetic cause of infant mortality and the second most common autosomal recessive disorder, after cystic fibrosis. Although the American College of Medical Genetics recommends carrier testing for all couples, the American College of Obstetricians and Gynecologists has issued a recommendation to the contrary, citing lack of information about the costs and benefits of screening for SMA.

9 Mar 2010

Isis Pharmaceuticals reports revenues of $32.3M for fourth-quarter 2009

Isis Pharmaceuticals, Inc. today announced its 2009 financial results and reviewed the highlights of the year. Isis achieved its 2009 financial guidance with pro forma net income of $166.9 million and a pro forma net operating loss (NOL) of $14.2 million compared with its guidance for the year of pro forma net income of more than $145 million and a pro forma NOL in the low to mid $20 million range. Isis also achieved its cash guidance by ending 2009 with $574.3 million of cash, cash equivalents and short-term investments significantly in excess of the $550 million projected.

1 Mar 2010

Reversing protein deficiency through gene therapy can improve SMA

Reversing a protein deficiency through gene therapy can correct motor function, restore nerve signals and improve survival in mice that serve as a model for the lethal childhood disorder spinal muscular atrophy, new research shows.

1 Mar 2010

PsychoGenics announces alliance with experimental neuropharmacology expert for specialized microdialysis services

PsychoGenics Inc. today announced the establishment of an exclusive alliance with Dr. Jan Kehr, an internationally recognized expert in experimental neuropharmacology, to provide specialized microdialysis services to complement PsychoGenics’ in vivo testing capabilities.

19 Feb 2010

Spinal muscular atrophy screening, not cost effective

In a study to be presented today at the Society for Maternal-Fetal Medicine's (SMFM) annual meeting, The Pregnancy Meeting -, in Chicago, researchers will unveil findings that show that it is not cost effective to screen for spinal muscular atrophy.

5 Feb 2010

CSC, ALS TDI extend collaboration in advancing potential stem cell therapy for ALS

California Stem Cell, Inc. (CSC) and ALS Therapy Development Institute (ALS TDI) are pleased to announce an extension and expansion of their collaboration aimed at advancing a potential stem cell therapy for ALS (amyotrophic lateral sclerosis). This effort will build on work that has already been completed as part of this on-going partnership to understand how stem cells, and their derivatives, may be applied to treatment of this fatal neurodegenerative disease.

3 Feb 2010

iPierian receives UK patent for induced pluripotent stem cell technology

iPierian, Inc., a biopharmaceutical company focused on changing the paradigm of drug discovery and development through the application of cellular reprogramming, today announced that the Intellectual Property Office in the United Kingdom has issued a Notification of Grant to iPierian for UK patent No. GB2450603, its first patent related to induced pluripotent stem cell (iPSC) technology.

29 Jan 2010

Simple, five minute saliva test to determine baby's risk for more than 100 life-threatening genetic diseases

Genetic diseases like those seen in the new Harrison Ford movie "Extraordinary Measures" can now be prevented with a simple saliva test which is free with insurance for more than 100 million Americans.

22 Jan 2010

PTC Therapeutics initiates additional clinical trial of ataluren in boys and young men with nmDBMD

PTC Therapeutics, Inc. (PTC) today announced the initiation of an additional clinical trial of ataluren (PTC124®) in boys and young men with nonsense mutation Duchenne/Becker muscular dystrophy (nmDBMD) who have permanently lost the ability to walk independently.

20 Jan 2010