DM1

Fun Family Tradition Supports DM Community

The Jensen family hosts an incredible crawfish boil each summer to support Care and a Cure. This year’s boil was bigger than ever with San Diego Harley-Davidson as a partner. To date, this event has raised nearly $100,000! Read more here.

3 Tips for Research Participants to Make Every Body Count

“Participating in a research study will help the greater good, and I’m hoping one may help me too,” says Caroline Easterling about why she participates in DM research. Read on for Caroline’s advice for participants.

Understanding the Genetic Causes of DM: Evaluation of the role of Other Gene Variants

Researchers in Europe have reported findings from a large cohort, where significant numbers of patients with DM-like symptoms do not have the known DMPK or CNBP repeat expansions. Considerable progress has been made in understanding the genetics and pathogenic mechanisms of DM. However, unknown factors (other mutations, modifier genes) very likely will be critical to models of disease onset and progression, as well as for development of impactful therapies. This latest report, valuable because of the large, carefully assessed cohort, suggests that MBNL1 variants, theoretically a potential cause of DM, exist but are rare and thus unlikely a major contributor to DM.

MDF is pleased to announce the following grant awards in partnership with the MDF UK, London, UK.

MDF and MDF UK 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.

 

New Findings on Quality of Life in DM2

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.

Gender Matters in DM1

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.

The Genetics of DM1 Repeat Size

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. 

University of Iowa Launches Brain Imaging Study

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.

 

Multi-Disciplinary Approach Needed for Congenital and Childhood DM Care

The results of a new MDF-funded study on the impact of congenital myotonic dystrophy are now available from Dr. Nicholas Johnson of the University of Utah and colleagues. The high frequency of social and cognitive issues in their findings underline the need for a multi-disciplinary approach to care. 

The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study

Many common DM symptoms become more severe during pregnancy, and women with DM have higher than average miscarriage rates, according to a study commissioned by MDF that examined data from the Myotonic Dystrophy Family Registry and the National Registry for DM and FSHD.

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