Spinal Muscular Atrophy News and Research RSS Feed - Spinal Muscular Atrophy News and Research

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.
Determining the dynein-dynactin complex structure: an interview with Dr Gabriel C. Lander

Determining the dynein-dynactin complex structure: an interview with Dr Gabriel C. Lander

This is a macromolecular assembly is made up of two components, dynein and dynactin, that works to move molecular cargo (organelles, RNA, vesicles, proteins, viruses) along microtubule highways within our cells. [More]
Researchers report role of two gene-regulating molecules in Parkinson's disease

Researchers report role of two gene-regulating molecules in Parkinson's disease

As Parkinson's disease progresses in patients, a puzzling dichotomy plays out in their brains. One set of neurons degenerates, while a similar population nearby is spared the same degree of damage. Why the difference? An answer to this question could clear the way for preventions and treatments for this disease, which impairs movement. [More]
Isis Pharmaceuticals, AstraZeneca to develop antisense therapies for cardiovascular, metabolic, renal diseases

Isis Pharmaceuticals, AstraZeneca to develop antisense therapies for cardiovascular, metabolic, renal diseases

AstraZeneca and Isis Pharmaceuticals, Inc. today announced a strategic collaboration to discover and develop antisense therapies for cardiovascular, metabolic and renal diseases. [More]
NEJM publishes positive clinical results from Phase 2 clinical study of volanesorsen

NEJM publishes positive clinical results from Phase 2 clinical study of volanesorsen

Isis Pharmaceuticals, Inc., the leader in RNA-targeted therapeutics, and Akcea Therapeutics, its wholly owned subsidiary, announced today that The New England Journal of Medicine (NEJM) has published positive clinical results from a Phase 2 clinical study evaluating volanesorsen (formerly ISIS-APOCIII Rx) in patients with very high to severely high triglycerides. [More]
Researchers use gene-editing technique involving low-dose irradiation to repair human stem cells

Researchers use gene-editing technique involving low-dose irradiation to repair human stem cells

For the first time, researchers have employed a gene-editing technique involving low-dose irradiation to repair patient cells, according to a study published in the journal Stem Cells Translational Medicine. This method, developed by researchers in the Cedars-Sinai Board of Governors Regenerative Medicine Institute, is 10 times more effective than techniques currently in use. [More]
Isis Pharmaceuticals receives $2.15 million milestone payment to advance ISIS-SMN Rx study in children with SMA

Isis Pharmaceuticals receives $2.15 million milestone payment to advance ISIS-SMN Rx study in children with SMA

Isis Pharmaceuticals, Inc. announced today that it has earned a $2.15 million milestone payment from Biogen related to advancing the ongoing pivotal Phase 3 study (CHERISH) evaluating ISIS-SMN Rx in children with spinal muscular atrophy (SMA). [More]
Akcea Therapeutics obtains FDA Orphan Drug Designation for volanesorsen

Akcea Therapeutics obtains FDA Orphan Drug Designation for volanesorsen

Akcea Therapeutics, a wholly-owned subsidiary of Isis Pharmaceuticals, Inc., announced today that the U.S. Food and Drug Administration has granted Orphan Drug Designation to volanesorsen (ISIS-APOCIIIRx) for the treatment of patients with Familial Chylomicronemia Syndrome (FCS). [More]
Researchers use pioneering stem cell techniques to better understand causes of Spinal Muscular Atrophy

Researchers use pioneering stem cell techniques to better understand causes of Spinal Muscular Atrophy

New research from the Advanced Gene and Cell Therapy Lab at Royal Holloway, University of London has used pioneering stem cell techniques to better understand why certain cells are more at risk of degenerating in Spinal Muscular Atrophy than others. [More]
Study on fruit flies, brewer's yeast may provide clues about cause of Spinal Muscular Atrophy

Study on fruit flies, brewer's yeast may provide clues about cause of Spinal Muscular Atrophy

Scientists at the University of Malta and the Institut de Génétique Moléculaire de Montpellier (CNRS/Université de Montpellier) have shown that fruit flies and brewer's yeast can reveal clues about the cause of Spinal Muscular Atrophy (SMA), the most common genetic killer of infants. [More]
Innovative gene transfer-based treatment for kids with giant axonal neuropathy

Innovative gene transfer-based treatment for kids with giant axonal neuropathy

University of North Carolina School of Medicine researchers have developed an innovative, experimental gene transfer-based treatment for children with giant axonal neuropathy (GAN). [More]
Isis Pharmaceuticals provides update on ISIS-SMN Rx Phase 2 study in children with SMA

Isis Pharmaceuticals provides update on ISIS-SMN Rx Phase 2 study in children with SMA

Isis Pharmaceuticals, Inc. today provided an update on children with spinal muscular atrophy (SMA) who have completed the open-label, Phase 2 multiple-dose study of ISIS-SMN Rx and are continuing to receive treatment in an open-label extension (OLE) study. [More]
Isis Pharmaceuticals provides update on ISIS-SMN Rx Phase 2 clinical study in infants with Type I SMA

Isis Pharmaceuticals provides update on ISIS-SMN Rx Phase 2 clinical study in infants with Type I SMA

Isis Pharmaceuticals, Inc. today provided an update on its ongoing open-label Phase 2 clinical study of ISIS-SMN Rx in infants with Type I spinal muscular atrophy (SMA). [More]
Cytokinetics, The ALS Association expand partnership to fight against ALS

Cytokinetics, The ALS Association expand partnership to fight against ALS

Cytokinetics, Incorporated and The ALS Association announced an expanded partnership in which the company will provide Gold Level Sponsorship of the National Walks to Defeat ALS as well as Platinum Level Sponsorship for ALS Association Golden West Chapter initiatives. [More]
Positive data from two studies analyzing Good Start's test for inherited diseases presented at ACOG 2015

Positive data from two studies analyzing Good Start's test for inherited diseases presented at ACOG 2015

Good Start Genetics, Inc., a commercial-stage molecular genetics information company, today presented data from two studies analyzing detection rates among patients at in vitro fertilization (IVF) clinics who underwent carrier screening for inherited diseases. The studies were presented at the 2015 Annual Clinical and Scientific Meeting of The American College of Obstetricians and Gynecologists being held in San Francisco, Calif. [More]
Proteomics helps identify previously unrecognized proteins and pathways in nerve regeneration

Proteomics helps identify previously unrecognized proteins and pathways in nerve regeneration

Using proteomics techniques to study injured optic nerves, researchers at Boston Children's Hospital have identified previously unrecognized proteins and pathways involved in nerve regeneration. Adding back one of these proteins--the oncogene c-myc--they achieved unprecedented optic nerve regeneration in mice when combined with two other known strategies. [More]
Isis Pharmaceuticals announces positive results from ISIS-ANGPTL3Rx Phase 1 study

Isis Pharmaceuticals announces positive results from ISIS-ANGPTL3Rx Phase 1 study

Isis Pharmaceuticals, Inc. announced today positive results from a Phase 1 study with ISIS-ANGPTL3Rx. In this study, healthy volunteers treated with ISIS-ANGPTL3Rx achieved dose-dependent, statistically significant reductions in angiopoietin-like 3 (ANGPTL3) of up to 93 percent with a mean reduction of up to 84 percent from baseline (p<0.001). [More]
Isis Pharmaceuticals announces positive results from Phase 1 study of ISIS-PKK Rx for HAE treatment

Isis Pharmaceuticals announces positive results from Phase 1 study of ISIS-PKK Rx for HAE treatment

Isis Pharmaceuticals, Inc. announced today positive results from a Phase 1 study with ISIS-PKKRx. In this study, healthy volunteers treated with ISIS-PKKRx achieved dose-dependent reductions of up to 95 percent in prekallikrein, or PKK. ISIS-PKKRx is a RNA-targeted antisense drug designed to inhibit the production of PKK for the prophylactic treatment of hereditary angioedema (HAE). [More]
Isis receives $5 million from Biogen Idec to develop drugs for neurological disorders

Isis receives $5 million from Biogen Idec to develop drugs for neurological disorders

Isis Pharmaceuticals, Inc. announced today it has earned a $5 million milestone payment from Biogen Idec associated with the validation of an undisclosed target to treat a neurological disorder under its broad strategic collaboration with Biogen Idec to develop drugs to treat patients with neurological disorders. [More]
Isis receives $10 million from Biogen Idec to begin IND-supporting studies of ISIS-BIIB4 Rx

Isis receives $10 million from Biogen Idec to begin IND-supporting studies of ISIS-BIIB4 Rx

Isis Pharmaceuticals, Inc. announced today that it has earned a $10 million milestone payment from Biogen Idec for initiating the investigational new drug (IND)-supporting studies of ISIS-BIIB4 Rx. [More]
Isis announces top-line results from ISIS-PTP1B Rx Phase 2 study in type 2 diabetes patients

Isis announces top-line results from ISIS-PTP1B Rx Phase 2 study in type 2 diabetes patients

Isis Pharmaceuticals, Inc. announced today top-line results from a Phase 2 study of ISIS-PTP1B Rx in patients with type 2 diabetes. In the Phase 2 study patients treated with ISIS-PTP1B Rx achieved statistically significant reductions in body weight and hemoglobin A1c (HbA1c). [More]
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