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.

Advances in chemistry and delivery are taking oligonucleotide medicines beyond rare diseases

A review in Cell Reports Medicine examines how advances in oligonucleotide chemistry and delivery have established ASOs and RNA interference therapies as a class of genetic medicines, with 21 oligonucleotides approved at the time of writing. It also identifies extrahepatic delivery, safety, target validation, individualized treatment, and data quality as priorities as the field expands into common diseases and explores AI-assisted development.

24 Sep 2026

New discovery overturns a prevailing model of brain development

For centuries, scientists have thought of the brain as a single, unified organ. But new research led by Stanford Medicine reveals that what we call the brain is two distinct organs that evolved independently over hundreds of millions of years.

18 Sep 2026

Evaluating new approaches for rare disease research

Marcel Nelen discusses his team’s early evaluation of a new workflow for rare disease genomics.

From Illumina, Inc. 10 Sep 2026

Zebrafish can play a decisive role in clinical interpretation of spinal muscular atrophy

The tiny zebrafish is helping researchers rapidly determine whether a newborn's genetic mutation is likely to cause spinal muscular atrophy (SMA), one of the leading causes of infant mortality worldwide.

28 Jan 2026

Novel antisense oligonucleotide shows promise against aggressive pancreatic cancer

Pancreatic ductal adenocarcinoma (PDAC) is the most lethal form of pancreas cancer. It's also the most common form of the disease.

8 Jan 2026

Study uncovers cerebellar involvement and social impairment

Spinal muscular atrophy is a rare genetic disease of the nerve cells in the spinal cord that can appear as early as infancy. The disease leads to a progressive loss of muscle strength. Those affected often suffer from muscle weakness early on, as well as difficulties with movement, breathing, and swallowing.

3 Oct 2025

Clinical trial reveals encouraging results for apitegromab in spinal muscular atrophy

A new clinical trial has revealed encouraging results for a muscle-targeting therapy aimed at improving motor function in children and adolescents with spinal muscular atrophy, according to a study published in The Lancet Neurology.

18 Sep 2025

Early use of risdiplam in newborns with SMA shows improvements in motor development

Spinal muscular atrophy (SMA) is a rare genetic condition that causes progressive muscle weakness, which, when untreated, prevents infants with the most severe form from gaining motor development - never gaining the ability to sit - and typically leads to death before 2 years of age.

13 Aug 2025

New gene delivery systems can reach cells in the brain and spinal cord with exceptional accuracy

Research teams funded by the National Institutes of Health (NIH) have created a versatile set of gene delivery systems that can reach different neural cell types in the human brain and spinal cord with exceptional accuracy.

21 May 2025

New CRISPR technology delivers RNA precisely to repair damaged brain cells

When a neuron in our body gets damaged, segments of RNA produce proteins that can help repair the injury.

21 May 2025

Injecting medicine into amniotic fluid shows promise for treating genetic disorders

Injecting medicine into the amniotic fluid staves off progression of spinal muscular atrophy in utero.

14 May 2025

LUC7 proteins play crucial role in efficient RNA splicing

RNA splicing is a cellular process that is critical for gene expression. After genes are copied from DNA into messenger RNA, portions of the RNA that don't code for proteins, called introns, are cut out and the coding portions are spliced back together.

21 Feb 2025

First prenatal treatment for spinal muscular atrophy shows promising results

Spinal muscular atrophy (SMA) is a progressive neurodegenerative disorder set in motion before birth. Scientists at St. Jude Children's Research Hospital led the first in uterotreatment of SMA with the orally administered drug risdiplam.

20 Feb 2025

Neurostimulation improves movement in adults with spinal muscle atrophy

A new drug-free, minimally invasive intervention targets the root cause of progressive loss of neural function in spinal muscle atrophy (SMA), an inherited neuromuscular disease.

5 Feb 2025

Uncovering the pathway behind ALS neurodegeneration

Approximately 5,000 people in the U.S. develop amyotrophic lateral sclerosis (ALS) each year. On average, they survive for only two to five years after being diagnosed, according to the Centers for Disease Control and Prevention.

8 Nov 2024

Scientists develop selective therapy for tau tangles

Scientists have developed new potential therapies that selectively remove aggregated tau proteins, which are associated with Alzheimer's disease, and improve symptoms of neurodegeneration in mice.

14 Sep 2024

New dye technique allows for transparent skin imaging in live mice

Seeing what's going on inside a body is never easy. While technologies like CT scans, X-rays, MRIs, and microscopy can provide insights, the images are rarely completely clear and can come with side effects like radiation exposure.

5 Sep 2024

Alternative splicing may influence gene expression more than protein diversity

Alternative splicing is a genetic process where different segments of genes are removed, and the remaining pieces are joined together during transcription to messenger RNA (mRNA).

2 Sep 2024

Scientists explore early life factors contributing to SMA

Spinal muscular atrophy (SMA) is a severe neurological disease for which there is presently no cure, although current therapies can alleviate symptoms. In the search for better treatment options, scientists at DZNE and the Dresden University of Technology are now drawing attention to previously unnoticed abnormalities in embryonic development. They base their argument on studies of so-called organoids: Laboratory-grown tissue cultures that can reconstruct disease processes. Their findings are published in the journal Cell Reports Medicine.

27 Jul 2024

Understanding Global Harmonization of Regulatory CMC within Veterinary Medicine with Tammy Newbold

In this interview, News Med talks to Tammy Newbold about Global Harmonization of Regulatory CMC within Veterinary Medicine.

From DSI, a PLG Company 26 Jul 2024