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

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

Researchers identify new mechanism in onset of motor neuron diseases

Researchers identify new mechanism in onset of motor neuron diseases

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

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

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

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

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

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

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

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

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

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

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

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

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

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

University of Tübingen heads Neuromics consortium

University of Tübingen heads Neuromics consortium

Diffusion tensor imaging detects complex muscle structures in 3D

Diffusion tensor imaging detects complex muscle structures in 3D

Two CUMC studies provide new insights into spinal muscular atrophy

Two CUMC studies provide new insights into spinal muscular atrophy

Molecular link between spinal muscular atrophy and amyotrophic lateral sclerosis

Molecular link between spinal muscular atrophy and amyotrophic lateral sclerosis

Quest Diagnostics announces availability of TERC test for cervical cancer

Quest Diagnostics announces availability of TERC test for cervical cancer

Investigators discover biological explanation for why low levels of oxygen advance SMA symptoms

Investigators discover biological explanation for why low levels of oxygen advance SMA symptoms

MitoTarget Project and neurodegenerative diseases: an interview with Rebecca Pruss, Ph.D., CSO of Trophos

MitoTarget Project and neurodegenerative diseases: an interview with Rebecca Pruss, Ph.D., CSO of Trophos

Advanced understanding of neurodegenerative diseases achieved by Trophos

Advanced understanding of neurodegenerative diseases achieved by Trophos

Introducing missing gene could help extend lives of patients with SMA

Introducing missing gene could help extend lives of patients with SMA

Conference highlights utility of zebrafish for human disorder studies

Conference highlights utility of zebrafish for human disorder studies