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.
GoFundMe has become a health care utility

GoFundMe has become a health care utility

Older Asian Americans hesitant to participate in MRI research, study finds

Older Asian Americans hesitant to participate in MRI research, study finds

Patient-specific muscle models pave way for personalized neuromuscular therapies

Patient-specific muscle models pave way for personalized neuromuscular therapies

Novel mechanism leads to motor neuron degeneration in spinal muscular atrophy

Novel mechanism leads to motor neuron degeneration in spinal muscular atrophy

Silencing galectin 1 protein shrinks liver cancer tumors in mice

Silencing galectin 1 protein shrinks liver cancer tumors in mice

New diagnostic workflow improves detection of 5q-spinal muscular atrophy

New diagnostic workflow improves detection of 5q-spinal muscular atrophy

Gene therapy's double-edged sword: Breakthrough treatments face manufacturing and efficacy

Gene therapy's double-edged sword: Breakthrough treatments face manufacturing and efficacy

New drug molecule restores lost nerve-muscle connections, enhances strength

New drug molecule restores lost nerve-muscle connections, enhances strength

New therapy to mitigate fragile X syndrome may be on the horizon

New therapy to mitigate fragile X syndrome may be on the horizon

Alternative splicing in neurodegenerative disease and the promise of RNA-based therapeutic strategies

Alternative splicing in neurodegenerative disease and the promise of RNA-based therapeutic strategies

The role of RNA splicing in one of the deadliest forms of pancreatic cancer

The role of RNA splicing in one of the deadliest forms of pancreatic cancer

The Wonder of DNA: Reflections from Dr. Francis Collins on the 20th Anniversary of the Human Genome Project

The Wonder of DNA: Reflections from Dr. Francis Collins on the 20th Anniversary of the Human Genome Project

New potential therapeutic developed for diffuse intrinsic pontine glioma using ASO technology

New potential therapeutic developed for diffuse intrinsic pontine glioma using ASO technology

Discovery suggests a new way to treat spinal muscular atrophy

Discovery suggests a new way to treat spinal muscular atrophy

Designer DNA drug could be used to delay paralysis in ALS

Designer DNA drug could be used to delay paralysis in ALS

Study paves way for developing effective ASO therapies for brain diseases with fewer side effects

Study paves way for developing effective ASO therapies for brain diseases with fewer side effects

Rare Diseases Action Plan for England focuses on providing better care and reducing health inequalities

Rare Diseases Action Plan for England focuses on providing better care and reducing health inequalities

A bitter battle over the ‘orphan drug’ program leaves patients’ pocketbooks at risk

A bitter battle over the ‘orphan drug’ program leaves patients’ pocketbooks at risk

Alternative splicing plays a role in compensating for loss of gene function

Alternative splicing plays a role in compensating for loss of gene function

Nusinersen treatment improves spinal muscular atrophy patients’ walking distance

Nusinersen treatment improves spinal muscular atrophy patients’ walking distance