Spinal Muscular Atrophy News and Research

RSS

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.

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

A new Rare Diseases Action Plan for England will be published today (Tuesday 28 February) that will ensure those living with these conditions receive better care and treatment, fairer access to testing and have continued support.

28 Feb 2023

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

A prescription drug that helps Lore Wilkinson walk and talk despite a rare muscle disease cost her so little for more than a decade that she didn't even use her insurance to pay for it.

22 Feb 2023

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

Living organisms have a knack for persisting in the face of challenges. For instance, when genes malfunction, organisms may be able to compensate by activating redundant genes with similar functions, called paralogs.

21 Feb 2023

Nusinersen treatment improves spinal muscular atrophy patients’ walking distance

A positive effect of nusinersen treatment on motor function in ambulant pediatric and adult spinal muscular atrophy (SMA) patients during a 38-month period has been demonstrated by an analysis of data from the SMArtCARE registry.

15 Feb 2023

Government introduces a Vaccine Taskforce style approach to tackle public health challenges in the UK

NHS patients are set to benefit from cutting-edge new treatments and technologies as the government introduces a Vaccine Taskforce style approach to tackling some of the biggest public health challenges facing the UK.

27 Nov 2022

Researchers discover a new function of CRISPR/Cas9 gene scissors

For several years now, the CRISPR/Cas9 gene scissors have been causing a sensation in science and medicine.

25 Nov 2022

Scientists explore links between survival motor neuron protein and sarcopenia

Adopting some of the strategies behind successfully treating the childhood disease spinal muscular atrophy may enable development of therapies to curb the muscle decline that accompanies aging, new research suggests.

15 Nov 2022

Researchers receive $1.2 million Keck Foundation grant to find molecules for targeting the 'undruggable proteome'

The W.M. Keck Foundation has awarded a $1.2 million grant to medicinal chemistry and computational biology researchers at the University of Kansas and the University of Chicago focused on addressing a long-unresolved problem in biomedical research -; finding molecules able to target the "undruggable proteome."

29 Aug 2022

Investigating the prerequisites for developing RNA-based antibiotics

In the fight against the Covid-19 pandemic, mRNA-based vaccines have impressively demonstrated their potential. Using this technology, scientists were able to rapidly develop and bring to market vaccines against SARS-CoV-2 that have been extremely effective at protecting millions of people against severe disease progression of COVID-19 or even death.

29 Jun 2022

Early identification and treatment can reduce financial costs associated with spinal muscular atrophy

New research published in Developmental Medicine & Child Neurology indicates that early identification and treatment of patients with spinal muscular atrophy (SMA)-; a genetic disorder characterized by weakness and wasting in muscles-; can reduce the total financial costs associated with the condition.

8 Jun 2022

New fund could enable early access to life-saving treatments for NHS patients in England

NNHS patients in England will have early access to potentially life-saving and cutting-edge treatments thanks to a new fund which has been launched today.

6 Jun 2022

Plastins may promote disease when they act like workaholics and disrupt cellular environment

A family of proteins that have a role in ensuring many types of cells move and maintain their shape may promote disease when they act like workaholics and disrupt the cellular environment, new research suggests.

19 May 2022

UW Medicine scientists contribute to the publication of first complete, gapless genome sequence

UW Medicine genome scientists were among the leading contributors to the publication of the first complete, gapless sequence of a human genome announced this week by the National Human Genome Research Institute.

31 Mar 2022

Researchers find a way to interfere with the energy pathway that promotes liver cancer spread

The World Health Organization projects that starting in 2030, over a million people will die each year from liver cancer.

4 Feb 2022

New approach using RNA therapeutic can fix protein problems in cystic fibrosis

The process of generating proteins from genes is akin to a factory, where workers follow a set of instructions that, ideally, are effective and clear.

27 Jan 2022

JPND announces call for multinational research on understanding the mechanisms of non-pharmacological interventions

The EU Joint Programme - Neurodegenerative Disease Research (JPND) initiative has announced a joint transnational call for multinational research on understanding the mechanisms of non-pharmacological interventions.

10 Jan 2022

Single-patient pilot study shows the ability of antisense oligonucleotide to suppress mutant ALS gene

Using a short, synthetic chain of chemically modified nucleotides engineered in the RNA Therapeutics Institute at UMass Chan Medical School, Robert H. Brown Jr., DPhil, MD, Jonathan Watts, PhD, and colleagues have shown the ability to suppress mutant forms of an ALS gene known as C9ORF72 in a single-patient pilot study.

24 Dec 2021

Complex RNA structures could have untapped therapeutic potential in the fight against COVID-19

To the untrained eye, the loops, kinks and folds in the single strand of RNA that makes up the coronavirus genome look like a jumble of spaghetti or tangled yarn. But to researchers like Amanda Hargrove, a chemistry professor at Duke University, the complex shapes that RNA takes on as it folds upon itself could have untapped therapeutic potential in the fight against COVID-19.

26 Nov 2021

New data reveals safety, efficacy of nusinersen drug delivery method for SMA patients with advanced disease

A recently published paper details the safety and efficacy of nusinersen administration via a subcutaneous intrathecal catheter system (SIC) for SMA patients with advanced disease.

25 Oct 2021

CHOP researchers develop tool to monitor disease severity in patients with mitochondrial myopathy

Researchers at Children's Hospital of Philadelphia successfully developed and validated a new outcome measure to monitor disease severity and progression in patients with impaired skeletal muscle function caused by mitochondrial disease.

1 Sep 2021