Muscular Dystrophy News and Research

RSS

The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.

Using CRISPR/Cas to develop biosafety materials

Researchers discuss the use of the highly efficient CRISPR/Cas technologies to identify viral genome sequences for biosafety purposes.

21 Mar 2022

Reactivating Piezo1 protein could help repair broken down, dystrophic muscles

One protein, Piezo1, is key to marshalling muscle stem cells' unique shapes and response to injuries, but it is in low supply in those with Duchenne muscular dystrophy, according to a team at the Perelman School of Medicine at the University of Pennsylvania.

18 Mar 2022

Using mRNA to introduce gene editor into human muscle stem cells

Mutations that lead to muscle atrophy can be repaired with the gene editor CRISPR-Cas9. A team led by ECRC researcher Helena Escobar has now introduced the tool into human muscle stem cells for the first time using mRNA, thus discovering a method suitable for therapeutic applications.

14 Mar 2022

Cellular therapy offers promise for patients with Duchenne muscular dystrophy, trial shows

A clinical trial at UC Davis Health and six other sites showed that a cellular therapy offers promise for patients with late-stage Duchenne muscular dystrophy (DMD), a rare genetic disorder causing muscle loss and physical impairments in young people.

10 Mar 2022

Glucocorticoid steroids improve muscle performance through distinct, sex-specific molecular pathways

Glucocorticoid steroids improved muscle performance through distinct, sex-specific molecular mechanisms in mice, according to a Northwestern Medicine study published in the Journal of Clinical Investigation.

7 Mar 2022

First platform trial for ALS hopes to accelerate the development of effective treatments

A new paper in Annals of Neurology describes the approach, structure, and launch of the HEALEY ALS Platform Trial– the first platform trial for amyotrophic lateral sclerosis (ALS) designed to accelerate the development of effective and breakthrough treatments for people with the illness.

28 Feb 2022

Inside the tactical tug of war over the controversial Alzheimer’s drug

The drug industry, patient advocates, and congressional Republicans have all attacked federal officials' decision to decline routine Medicare coverage for a controversial Alzheimer's drug.

16 Feb 2022

Novel promising biomarker correlates with the severity of facioscapulohumeral muscular dystrophy

There is currently no effective treatment for facioscapulohumeral muscular dystrophy (FSHD), one of the most common neuromuscular diseases, which is caused by an abnormal expression of the transcription factor DUX4.

15 Feb 2022

Study reveals link between muscular dystrophy and sphingolipids

In a new study, the group of Johan Auwerx at EPFL's School of Life Sciences has made the first connection between muscular dystrophy and sphingolipids, a group of bioactive lipids. The study is published in Science Advances.

29 Jan 2022

Novel gene therapy for diseased muscle fiber repair

In this interview, News-Medical speaks to Dr. Jyoti K. Jaiswal about his latest research into gene therapies for limb-girdle muscular dystrophy 2B.

24 Jan 2022

New findings could contribute to future therapeutics for muscle degeneration

An international team led by uOttawa Faculty of Medicine researchers have published findings that could contribute to future therapeutics for muscle degeneration due to old age, and diseases such as cancer and muscular dystrophy.

19 Jan 2022

New gene therapy addresses primary cellular deficit associated with limb-girdle muscular dystrophy 2B

Children's National Hospital experts developed a new pre-clinical gene therapy for a rare disorder, known as limb-girdle muscular dystrophy (LGMD) 2B, that addresses the primary cellular deficit associated with this disease.

4 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

New consensus-based recommendations designed to improve quality of life for DMD patients

Many more adults with Duchenne muscular dystrophy (DMD) are living longer thanks to improvements in treatment, however international standards of care have not yet fully addressed the complex needs of these patients.

9 Dec 2021

First pediatric-only guidelines for the use of pacemakers and implantable defibrillators

Children's Hospital Los Angeles cardiologist Michael Silka, MD, helped to pioneer the development of indications for the use of pacemakers and implantable defibrillators in young patients.

6 Dec 2021

Study shows long-term safety and biologic activity of golodirsen in DMD patients

This first-in-human study of golodirsen showed its long-term safety and biologic activity in patients with Duchenne Muscular Dystrophy (DMD). The approved exon-skipping therapy is designed to enable the production of functional dystrophin proteins, as described in the peer-reviewed journal Nucleic Acid Therapeutics.

1 Dec 2021

Study offers new insight into the role of tau proteins in ALS pathogenesis

A team led by investigators at Massachusetts General Hospital has shown that people living with amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, who carry a mutation in the C9orf72 gene exhibit elevated levels of tau and phosphorylated tau protein in the motor cortex region of the brain.

15 Nov 2021

Lamin C important for keeping cell’s genetic material organized, research shows

In a study with lab-grown mouse cells, Johns Hopkins Medicine researchers say they have found that a protein that helps form a structural network under the surface of the cell's "command center" — its nucleus — is key to ensuring that DNA inside it remains orderly.

15 Nov 2021

New therapy harnesses "dancing molecules" to reverse paralysis, repair tissue after spinal cord injuries

Northwestern University investigators have developed a new injectable therapy that harnesses "dancing molecules" to reverse paralysis and repair tissue after severe spinal cord injuries.

11 Nov 2021

Health care costs for people with rare diseases have been underestimated, study shows

A new, retrospective study of medical and insurance records indicates health care costs for people with a rare disease have been underestimated and are three to five times greater than the costs for people without a rare disease.

22 Oct 2021