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.

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

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

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

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

Alternative splicing, a clever way a cell generates many different variations of messenger RNAs -; single-stranded RNAs involved in protein synthesis -; and proteins from the same stretch of DNA, plays an important role in molecular biology.

21 Jun 2023

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

In this interview, we spoke to Adrian Krainer, a Professor at Cold Spring Harbor Laboratory, about his latest research into the role of RNA splicing in one of the deadliest forms of pancreatic cancer.

22 May 2023

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

To highlight how far the field of genetics has come, we spoke with Dr. Francis Collins, the leader of the Human Genome Project about his incredible career in genetics.

25 Apr 2023

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

Diffuse intrinsic pontine glioma (DIPG) is a lethal pediatric brain cancer that often kills within a year of diagnosis. Surgery is almost impossible because of the tumors' location.

12 Apr 2023

Discovery suggests a new way to treat spinal muscular atrophy

Columbia researchers have discovered how a genetic defect leads to spinal muscular atrophy (SMA), a critical piece of information about the disease that neurologists have been seeking for decades.

23 Mar 2023

Designer DNA drug could be used to delay paralysis in ALS

In virtually all persons with amyotrophic lateral sclerosis (ALS) and in up to half of all cases of Alzheimer's disease (AD) and frontotemporal dementia, a protein called TDP-43 is lost from its normal location in the nucleus of the cell.

17 Mar 2023

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

A promising therapy for a range of brain diseases involves antisense oligonucleotides (ASOs)-;specialized molecules that can modulate RNA and alter protein production-;directly injected into the cerebrospinal fluid, in the space around the brain and spinal cord.

14 Mar 2023