Muscular Dystrophy News and Research

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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.

Structure of amyloid fibers formed by the protein hnRNPDL-2 determined

Using high-resolution cryo-electron microscopy (cryo-EM), UAB researchers determined the structure of amyloid fibers formed by the protein hnRNPDL-2, which has been linked to limb-girdle muscular dystrophy type 3 and concluded that the protein’s inability to form amyloid ﬁbers, rather than aggregation, would be the cause of the disease.

6 Feb 2023

New genetic condition that raises vulnerability to opportunistic infections

An international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including life-threatening fungal pneumonia.

24 Jan 2023

RNA-targeting strategy to repair the genetic cause of ALS and dementia

Researchers at UF Scripps Biomedical Research have created a potential treatment for a major factor in the development of ALS and dementia that functions by removing disease-causing RNA segments.

24 Nov 2022

Parents transmit genetic and epigenetic information to their offspring

The knowledge of what can be inherited from parents and how their life experiences impact children could be completely rewritten if a fundamental finding concerning a factor driving healthy development in embryos were made.

From Walter and Eliza Hall Institute of Medical Research (WEHI) 15 Aug 2022

National DNA Day 2022: PacBio HiFi Sequencing Contributes to First Complete Human Genome

To celebrate National DNA Day 2022, News-Medical speaks to Jonas Korlach, Chief Scientific Officer of PacBio.

25 Apr 2022

Cell-derived therapy may help treat ventricular arrhythmia

Vesicles secreted from human heart cells may repair damaged tissue and prevent lethal heart rhythm disorders, according to a new study from investigators in the Smidt Heart Institute at Cedars-Sinai.

13 Apr 2022

Scientists use mRNA delivery to enhance muscle power

Mutations that cause muscle atrophy can be corrected using the CRISPR-Cas9 gene-editing tool.

16 Mar 2022

Cellular therapy leads to meaningful functional improvements in DMD patients

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.

From The University of California, Davis 14 Mar 2022

Experts introduce new gene therapy approach for muscle weakness

Experts at Children’s National Hospital have created a new pre-clinical gene therapy for the rare condition limb-girdle muscular dystrophy (LGMD) 2B.

7 Jan 2022

Gene writing helps develop advanced therapies safely and effectively

An international, multidisciplinary team of researchers from the Translational Synthetic Biology Laboratory at Pompeu Fabra University (Barcelona, Spain), led by Dr. Marc Güell, has published an article in the scientific journal Nature Communications.

14 Dec 2021

Study uncovers mechanism behind skin cell transformation

Researchers have created a recipe for turning skin cells into primitive muscle-like cells that can be sustained indefinitely in the laboratory.

23 Aug 2021

Study shows promising results for treating muscular dystrophies with umbilical cord-derived MSCs

Results of a compassionate-use study released in STEM CELLS Translational Medicine show promising results for treating muscular dystrophies with mesenchymal stem cells (MSCs) derived from Wharton's jelly (WJ), a substance found in the umbilical cord.

28 Jul 2021

New gene therapy could help treat Duchenne muscular dystrophy

Researchers from UT Southwestern used a new kind of gene therapy to successfully treat mice with Duchenne muscular dystrophy (DMD), distinctively employing CRISPR-Cas9-based tools to restore a large section of the dystrophin protein missing in several DMD patients.

3 May 2021

Stem cell therapy could help restore debilitating muscle loss that happens with age

As the name implies, induced pluripotent stem cells can become any type of cell in our body, and scientists have evidence that when they prompt them to become muscle progenitor cells they can help restore the sometimes debilitating muscle loss that happens with age.

24 Mar 2021

Revolutionary CRISPR-based genome editing system treatment destroys cancer cells

Researchers at Tel Aviv University have demonstrated that the CRISPR/Cas9 system is very effective in treating metastatic cancers.

11 Dec 2020

Study shows CRISPR/Cas9 system can effectively treat metastatic cancers

Researchers have shown that the advanced CRISPR/Cas9 system is extremely effective in curing metastatic cancers.

19 Nov 2020

Researchers identify new potential therapeutic targets for SARS-CoV-2 infection

To identify new potential therapeutic targets for SARS-CoV-2, a team of scientists at the New York Genome Center, New York University, and the Icahn School of Medicine at Mount Sinai, performed a genome-scale, loss-of-function CRISPR screen to systematically knockout all genes in the human genome.

27 Oct 2020

Study clarifies role of ERβ in growth and regeneration of skeletal muscle in female mice

Researchers at Kumamoto University, Japan generated mice lacking the estrogen receptor beta (ERβ) gene, both fiber-specific and muscle stem cell-specific, which resulted in abnormalities in the growth and regeneration of skeletal muscle in female mice.

13 Oct 2020

Components leaking from broken muscle fibers activate 'satellite' muscle stem cells

While building a muscle damage model in a cultured system, a research collaboration between Kumamoto University and Nagasaki University in Japan has found that components leaking from broken muscle fibers activate "satellite" muscle stem cells.