Muscular Atrophy News and Research

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Real-world data validates gene therapy for spinal muscular atrophy

Findings from a new study in the Journal of Neuromuscular Diseases, published by IOS Press, demonstrate the effectiveness of disease-modifying treatments (DMTs) in infants with spinal muscular atrophy (SMA).

15 Apr 2024

Discovery of a fundamental biological mechanism opens path for novel therapies

The lab of Yongchao C. Ma, PhD, at Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago discovered a fundamental biological mechanism that could lead to new treatments for neurological diseases, such as spinal muscular atrophy (SMA) and autism, as well as different cancers.

4 Apr 2024

Space travel alters human vascular cell function, study finds

Study investigates the transcriptomic changes in human vascular smooth muscle cells exposed to spaceflight, revealing significant alterations in gene expression affecting cellular function and phenotype.

31 Mar 2024

Innovative super minigene to revolutionize spinal muscular atrophy research

Ravindra Singh has spent years studying a gene that when missing or mutated causes spinal muscular atrophy (SMA), a deadly disease that's among the most common genetic disorders in children.

13 Mar 2024

Study provides insights into the action and specificity of splice-modifying drugs

Spinal muscular atrophy, or SMA, is the leading genetic cause of infant death. Less than a decade ago, Cold Spring Harbor Laboratory (CSHL) Professor Adrian Krainer showed this brutal disease can be treated by tweaking a process called RNA splicing.

6 Mar 2024

GoFundMe has become a health care utility

GoFundMe started as a crowdfunding site for underwriting "ideas and dreams," and, as GoFundMe's co-founders, Andrew Ballester and Brad Damphousse, once put it, "for life's important moments."

12 Feb 2024

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

Asian Americans are less likely than their white peers to participate in health research involving MRIs and addressing this hesitancy could improve research, according to a Rutgers Health-led study.

9 Feb 2024

Patient-specific muscle models pave way for personalized neuromuscular therapies

Scientists have so far identified around 800 different neuromuscular diseases. These conditions are caused by problems in the way muscle cells, motor neurons and peripheral cells interact.

19 Dec 2023

Novel mechanism leads to motor neuron degeneration in spinal muscular atrophy

The lab of Yongchao C. Ma, PhD, at Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago uncovered a novel mechanism that leads to motor neuron degeneration in spinal muscular atrophy (SMA).

7 Dec 2023

Silencing galectin 1 protein shrinks liver cancer tumors in mice

Researchers at UC Davis Comprehensive Cancer Center have shown that inhibiting a specific protein using gene therapy can shrink hepatocellular carcinoma (HCC) in mice.

30 Nov 2023

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

5q-spinal muscular atrophy (5q-SMA) is one of the more common types of spinal muscular atrophy (SMA) affecting around one in ten thousand individuals worldwide.

15 Nov 2023

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

Research explores the advancements, challenges, and economic implications of gene therapy for various diseases, including inherited blood disorders, malignancies treated with CAR-T cells, and diseases targeted by in vivo AAV vectors. The review highlights the transformative potential of gene therapies while acknowledging the complexities in manufacturing, safety, efficacy, and long-term durability.

12 Nov 2023

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

A small molecule previously shown to enhance strength in injured or old laboratory mice does so by restoring lost connections between nerves and muscle fibers, Stanford Medicine researchers have found.

11 Oct 2023

Musashi-2 protein plays key role in the regulation of mass and metabolic processes in skeletal muscle

Researchers from Tokyo Metropolitan University have shown that the protein Musashi-2 (Msi2) plays a key role in the regulation of mass and metabolic processes in skeletal muscle.

11 Sep 2023

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

An antisense therapy developed by Joel D. Richter, PhD, Sneha Shah, PhD, and Jonathan K. Watts, PhD, at UMass Chan Medical School and Elizabeth Berry-Kravis, MD, PhD, at RUSH University Medical Center, restores production of the protein FMRP in cell samples taken from patients with fragile X syndrome.

5 Jul 2023