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.

Repligen Earns $1M Pfizer Milestone Payment

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4 Sep 2013

Medical investigators discover new aspect of gene-splicing process that produces mRNA

A rare, small RNA turns a gene-splicing machine into a switch that controls the expression of hundreds of human genes. Howard Hughes Medical Institute Investigator and professor of Biochemistry Gideon Dreyfuss, PhD, and his team from the Perelman School of Medicine at the University of Pennsylvania, discovered an entirely new aspect of the gene-splicing process that produces messenger RNA (mRNA).

22 Aug 2013

Research: RG3039 drug can extend survival, improve function in spinal muscular atrophy mouse models

In a new publication that appears in Human Molecular Genetics, the laboratory of Christine DiDonato, PhD reports on their pharmacological characterization of the drug RG3039, demonstrating that it can extend survival and improve function in two spinal muscular atrophy (SMA) mouse models.

5 Jun 2013

CGCF backs Canadian scientist's research on Spinal Muscular Atrophy

The Canadian Gene Cure Foundation, in partnership with the Canadian Institutes of Health Research through its Institute of Genetics, is pleased to announce the awarding of a $90,000 Champions of Genetics: Building the Next Generation Grant to Dr. Faraz Farooq, a Scientist at the Children Hospital of Eastern Ontario Research Institute.

9 May 2013

Isis Pharmaceuticals starts ISIS-SMNRx Phase 2 study in infants with SMA

Isis Pharmaceuticals, Inc. announced the initiation of a Phase 2 study of ISIS-SMNRx in infants with spinal muscular atrophy. SMA is a severe and rare genetic neuromuscular disease characterized by muscle atrophy and weakness and is the most common genetic cause of infant mortality.

24 Apr 2013

Clinical trial signals new era in treatment of neurodegererative disorders

The initial clinical trial of a novel approach to treating amyotrophic lateral sclerosis - blocking production of a mutant protein that causes an inherited form of the progressive neurodegererative disease - may be a first step towards a new era in the treatment of such disorders.

4 Apr 2013

DART Therapeutics develops new class of therapy for Duchenne muscular dystrophy

DART Therapeutics Inc., an innovative, new-model biotechnology firm focused on developing therapies for Duchenne muscular dystrophy, announced today that it is developing a SARM drug candidate obtained from Belgium-based Galapagos NV.

21 Mar 2013

Columbia University Medical Center, NewYork-Presbyterian Hospital present research works at AAN meeting

The following research from Columbia University Medical Center and NewYork-Presbyterian Hospital is being presented at the 65th annual meeting of the American Academy of Neurology, March 16-23, 2013, in San Diego.

18 Mar 2013

Phase 1b study of olesoxime initiated in multiple sclerosis (MS) patients

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14 Mar 2013

Researchers identify new mechanism in onset of motor neuron diseases

The British astrophysicist Stephen Hawking is likely to be the world's most famous person living with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. ALS is a progressive disease affecting motor neurons, nerve cells that control muscle function, and nearly always leads to death.

11 Mar 2013

Pivotal study of olesoxime in Spinal Muscular Atrophy receives positive interim review

Trophos SA, a clinical stage pharmaceutical company developing innovative therapeutics from discovery to clinical validation for under-served medical needs in neurology and cardiology, announced the completion of the interim analysis of the pivotal efficacy study of olesoxime in the rare neurodegenerative condition Spinal Muscular Atrophy (SMA).

1 Mar 2013

Quest Diagnostics offers access to a new non-invasive prenatal test developed by Natera

Quest Diagnostics (NYSE:DGX), the world’s leading diagnostic information services company, and Natera, a leading innovator in prenatal genetic testing, today announced that Quest Diagnostics will offer physicians access to Panorama™, a new non-invasive prenatal test developed by Natera.

From Quest Diagnostics 21 Feb 2013

Counsyl, ARUP partner to expand pregnancy genetic test offering for prospective parents

Counsyl has partnered with ARUP Laboratories, a nonprofit enterprise of the University of Utah, to expand its pre-pregnancy and early pregnancy genetic test offering for prospective parents. ARUP's molecular genetic testing laboratory already provides a comprehensive set of testing options for a broad range of inherited disorders.

28 Jan 2013

Researchers to develop new diagnostic tools and treatments for people with rare diseases

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

25 Jan 2013

Pfizer, Repligen sign licensing deal to advance spinal muscular atrophy program

Repligen Corporation announced today that it has entered into an exclusive worldwide licensing agreement with Pfizer Inc. to advance Repligen's spinal muscular atrophy (SMA) program, originally in-licensed from Families of SMA (FSMA).

3 Jan 2013

Isis, Biogen Idec partner to discover and develop antisense drugs against neuromuscular disorders

Biogen Idec and Isis Pharmaceuticals, Inc. today announced that they have entered into a global collaboration agreement under which the companies will discover and develop antisense drugs against three undisclosed targets to treat neurological or neuromuscular disorders.

11 Dec 2012

JPND invites proposals from researchers to understand the underlying causes of neurodegenerative diseases

The EU Joint Programme - Neurodegenerative Disease Research (JPND) is inviting calls for proposals from research teams across Europe to increase understanding of the factors that put people at risk of developing neurodegenerative diseases (ND) such as Alzheimer's and also to evaluate health and social care strategies for people living with these debilitating illnesses.

10 Dec 2012

University of Tübingen heads Neuromics consortium

Work has begun on Neuromics, a major project headed by Tübingen's Professor Olaf Riess; the project beat out ten other first-class applications to attain €12m euros in EU funding over five years.

8 Nov 2012

Diffusion tensor imaging detects complex muscle structures in 3D

Eindhoven University of Technology (TU/e) and the Academic Medical Center (AMC) in Amsterdam have together developed a technique that allows detailed 3D imaging of complex muscle structures of patients.

31 Oct 2012

Two CUMC studies provide new insights into spinal muscular atrophy

A study by scientists from the Motor Neuron Center at Columbia University Medical Center (CUMC) suggests that spinal muscular atrophy (SMA), a genetic neuromuscular disease in infants and children, results primarily from motor circuit dysfunction, not motor neuron or muscle cell dysfunction, as is commonly thought.

12 Oct 2012