Muscular Atrophy News and Research

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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

$4 million program launched to find transformative therapies for ADNP syndrome

Researchers at the UC Davis MIND Institute are launching a $4 million program to find transformative therapies for ADNP syndrome. The rare genetic condition causes developmental delays and can affect the brain, heart, gastrointestinal system and more.

29 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

Innovative therapeutic platform for blood-to-brain delivery of antisense oligonucleotide therapy

Antisense oligonucleotide (ASO) therapy has the potential to ameliorate many neurodegenerative diseases at the genetic level to suppress the production of harmful proteins or non-coding RNAs.

12 Aug 2021

Newborn screening and early treatment for spinal muscular atrophy can save both lives and money

Gene therapy for spinal muscular atrophy might have a high up-front price tag. But by screening and treating infants early, the therapy can save both lives and money in the long term.

4 Aug 2021

Dying patients with rare diseases struggle to get experimental therapies

At 15, Autumn Fuernisen is dying. She was diagnosed at age 11 with a rare degenerative brain disorder that has no known cure or way to slow it down: juvenile-onset Huntington's disease.

14 Jul 2021

New components for oligonucleotide drugs show safety, efficacy in treating spinal muscular atrophy

Skoltech researchers and their colleagues from Russia and the UK investigated the safety and efficacy of new chemistry in antisense oligonucleotides used to treat spinal muscular atrophy (SMA), a debilitating genetic disease.

29 Jun 2021

Intranasal COVID-19 therapeutic shows promise in preclinical trials

Researchers from the US and Denmark recently described a novel therapeutic option that targets the SARS-CoV-2 ribonucleic acid (RNA) using locked nucleic acid antisense oligonucleotides (LNA ASOs). They identified an LNA ASO that binds to the 5’ leader sequence of SARS-CoV-2 ORF1a/b. This disrupts a highly conserved stem-loop structure with nanomolar efficacy and inhibits viral replication in host cells.

20 May 2021

Researchers identify genetic cause of a rare neurological disorder

In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children's Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.

7 May 2021

Genethon announces dosing of first patient at pediatric clinical trial platform for neuromuscular diseases

A first participant was dosed at I-Motion, the pediatric clinical trial platform for neuromuscular diseases located at Trousseau hospital in Paris, as part of the gene therapy trial in Duchenne muscular dystrophy (DMD) conducted by Genethon.

20 Apr 2021

Keele researcher awarded prestigious grant to identify treatments for devastating childhood disease

A Keele researcher will embark on a two-year study to identify affordable treatments to help children living with spinal muscular atrophy.

15 Apr 2021

Researchers evaluate new drug for spinal muscular atrophy in a broader spectrum of patients

The rarity of spinal muscular atrophy (SMA) means that promising new treatments may be tested in only a limited spectrum of patients before approval. Investigators evaluated a newly approved drug, onasemnogene abeparvovec, in a broader spectrum of patients in order to obtain expanded data on its side effects profile.

6 Apr 2021

Study: Early benefit assessment of new drugs within the framework of AM-NOG procedure

"The AMNOG procedure has passed its first practical test. It is practicable and can also be implemented in detail", emphasized IQWiG's Director Jürgen Windeler in October 2011, when the Institute had published its first early benefit assessment within the framework of the AM-NOG procedure (AMNOG = Act on the Reform of the Market for Medicinal Products).

22 Mar 2021

UC San Diego researchers launch clinical trial to test gene therapy for Alzheimer’s disease

Researchers at University of California San Diego School of Medicine have launched a first-in-human Phase I clinical trial to assess the safety and efficacy of a gene therapy to deliver a key protein into the brains of persons with Alzheimer's disease (AD) or Mild Cognitive Impairment (MCI), a condition that often precedes full-blown dementia.

18 Feb 2021