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Preclinical proof of concept is published for a small molecule strategy targeting toxic DM1 repeat-expanded RNA.

A recent study implicates RNAi driven by CUGexp as an independent mechanism in altered gene expression and pathogenesis of DM1.

Dr. Vincent Dion awarded $250,000 grant to pursue gene editing technology development to find a cure for DM.

Recent studies have shown that MBNL exhibits differential dose-response relationships across the various gene translation events that it regulates in health and disease. It is as yet unclear precisely how the structure of the pre-mRNA itself contributes to patterning of MBNL-dependent alternative splicing.

Fuchs’ endothelial corneal dystrophy is mechanistically related to and commonly observed in DM1 families even in the absence of the Fuchs’ mutation.

Some of you may have watched the news show, 60 Minutes, on April 29th. The 60 Minutes piece of interest to everyone with an inherited disease, like DM, was titled: “CRISPR: The Gene-Editing Tool Revolutionizing Biomedical Research”.

Learn more about Dr. Ami Mankodi, principal investigator at the National Institutes of Health’s (NIH) National Institute of Neurological Disorders and Stroke (NINDS) in Bethesda, Maryland. Dr. Mankodi has been involved in research that has helped shape a fundamental biologic and molecular understanding of myotonic dystrophy (DM).

Investigators at the University of California San Diego, the University of Florida, and the National University of Singapore have recently reported early research that potentially ‘repurposes’ gene editing technology for a set of RNA disorders—myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), a subset of Lou Gehrig’s disease (ALS) patients and Huntington’s disease. They have modified the Cas9 enzyme so it is targeted to toxic RNA, instead of the expanded DNA repeats in these diseases.

A novel redirection of CRISPR/Cas9 technology addresses toxic RNA, rather than the genome, as a potential therapy for DM1 and DM2.

A new study points to the timing of MBNL-dependent RNA processing defects as a major factor in the pathogenesis of CDM.

Preclinical animal efficacy data used to support the scientific rational for Ionis’ phase 1/2 clinical trial in DM1 was just published.

New fly models show a DM2 phenotype at least as severe as DM1 and may provide a platform for studies of genetic modifiers and candidate therapy screening in DM.

A large retrospective study helps clarify genotype-cardiac phenotype relationships in adult DM1.

MDF staff recently attended the 2017 annual meeting of the American Academy of Neurology, in Boston, MA. Here are highlights from that meeting.

There have been new discoveries in the way that congenital myotonic dystrophy (CDM) is inherited.

Important review articles on disease mechanisms of and therapy development for DM have recently been published.

Epigenetic modifications upstream of an expanded DMPK allele may underlie the maternal bias in the inheritance of CDM.

A potentially revolutionary technology may allow development of a drug for DM that can correct a patient’s DNA by selectively removing the expanded CTG and CCTG repeats in DM1 and DM2, respectively.

Gene editing is a potential avenue for therapy development in DM. With the safety, efficacy and delivery challenges, how do we get there?

Biomarkers of various Contexts of Use are essential for drug development in DM—recent guidance documents and publications point to exciting new opportunities.

The myotonic dystrophy (DM) community has a strong champion in singer-songwriter Eric Hutchinson. As part of his long-time efforts to support Care and a Cure for myotonic dystrophy, Eric is offering one-of-a-kind fan activities and memorabilia in a new pledge campaign, and a portion of the proceeds will be donated to the Myotonic Dystrophy Foundation (MDF).

Scientists from a consulting firm with considerable experience in evaluation of patient-reported outcome measures evaluated available PROMs for their potential in DM1 clinical trials.

Lukasz Sznajder, Ph.D., is developing a mouse model for type 2 myotonic dystrophy, a crucial step that is expected to advance understanding of and therapy for this disease.

New studies in mouse models show that constitutive or acquired loss of Dmpk has no effects on skeletal or cardiac muscle function.

Acclaimed musician Eric Hutchinson is using his new album to support Care and a Cure. Read his inspiring family story.

MDF and Wyck jointly announce the funding of two new research projects. The projects address critical gaps in research infrastructure and clinical trial readiness and will increase understanding of the progression of DM, and provide measures to evaluate disease progression and the efficacy of candidate therapeutics.

 

A former MDF Fellow, Dr. Yao Yao, has made a breakthrough in understanding how muscle stem cells are directed to aid muscle regeneration. Read about his important research here.

A new quality of life study found that some DM2 patients are impacted as severely as those with DM1. Read more on the findings here.

For the first time, researchers have a means of targeting RNA in living cells. There is potential for this approach to edit the CTG and CTTG expansions in DM1 and DM2. Read the article from MDF to learn more.

Dr. Matt Disney brings an unusual and increasingly valuable skill to therapy development for DM—he’s a chemist. The NIH has recently awarded two research grants in support of Dr. Disney’s research. Read this article to find out how his work leverages the latest advances in RNA biology to target the unique disease mechanisms of DM.

Dr. Guillaume Bassez and a large team in France and Canada recently published an analysis of gender and its impact on the DM1 phenotype. Read about their findings in this article.

A new study by a multi-disciplinary, international team has shed light on the molecular changes at the root of DM-related heart dysfunction, the second leading cause of death for DM patients.

Researchers from the University of Costa Rica and the University of Glasgow teamed up to investigate the DNA mutation causing myotonic dystrophy type 1 (DM1). They found that polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients. 

Dr. Charles Thornton, neurologist at the University of Rochester Medical Center and MDF Scientific Advisory Committee member, has been awarded a Javits Neuroscience Investigator Award from the National Institutes of Health to further his research on muscular dystrophy. Read more about this very distinguished award for “exceptional” investigators and the important work Dr. Thornton is doing here.

The University of Iowa has been awarded a grant by the National Institute of Neurological Disorders and Stroke (NINDS) to fund a 3-year longitudinal study of adults with a family history of DM1. Learn more about the study and how to participate in this article.

 

In a ground-breaking academic and pharmaceutical company collaboration, Sanofi-Aventis and the University of Florida will screen for new drugs to treat DM1 and DM2. Read the full article here.

The Myotonic Dystrophy Foundation(MDF) is pleased to welcome Dr. Kathie Bishop, Ph.D., to its Scientific Advisory Committee(SAC). Dr. Bishop, who joined the SAC in summer 2015, is a seasoned expert in neurological and neuromuscular research and drug development.

Although up to 25% of people with myotonic dystrophy report that gastrointestinal symptoms are their most troubling issue, we still understand little about their cause. MDF Fellow Dr. Melissa Hinman at the University of Oregon is tackling this issue with Dr. Andy Berglund of the University of Florida using zebrafish models.

Researchers at the University of Virginia recently published a paper describing a biological pathway they believe may be responsible for muscle degeneration in DM1.

Professor Darren Monckton of the University of Glasgow in Scotland has been fascinated by genetics since very early in his career. Today he heads up a major genetic disease research group focused largely on understanding the relationship between DM's underlying genetics and symptoms in families and individuals.

The MDF 3.0 Roadmap is available for your review. MDF has pledged our resources to a number of significant aimed at accelerating Care and a Cure for the next three years.

Dr. Tetsuo Ashizawa, MD, has focused his career on the search for DM treatments and care for those affected. His multi-disciplinary, patient-centric approach to care moves DM research out of the lab and into his clinic at the University of Florida.

Researchers from Dr. Matthew Disney's lab at the Scripps Research Institute of Florida recently published an article describing a new chemical they designed to inhibit the unhealthy repeat-containing RNA molecule seen in DM2.

Join the Myotonic Dystrophy Family Registry and help accelerate myotonic dystrophy research and drug development! 

New research on the impact of the mother's age on congenitally affected offspring.

Researchers at the University of Illinois recently re-engineered small molecules to disrupt toxic RNA repeats involved in DM2.

Researchers identify the gene believed to be responsible for adverse statin drug side effects in DM2 patients.  

Researchers at important academic labs around the US have recently published exciting new information about advances in DM research.

Maurice Swanson, Ph.D., Professor of Molecular Genetics and Microbiology at University of Florida, Gainesville, and a team of researchers have found that the muscleblind-like 2 (MBNL2) protein in the central nervous system (CNS) may be responsible for the neurological impacts of myotonic dystrophy

Antisense oligonucleotides – short segments of genetic material designed to target specific areas of a gene

The new approach could have implications for many genetic diseases.

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