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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?

DM as a family disease.

In partnership with MDF, the Wyck Foundation awarded a number of new DM research grants.

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. John Porter, former Program Director of Neuromuscular Disease at the National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH), has joined MDF as its Interim Chief Science Officer. Dr. Sharon Hesterlee, who formerly filled this position, will remain active as a member of MDF’s Scientific Advisory Committee.

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.

 

Cloud Pharmaceuticals, a cloud-based drug design and development company, is interested in potential collaborations around myotonic dystrophy targets.

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.

Steven and Kelly Bormann are kicking off the new year with their 2nd Annual Poker and Paint Party February 20th in Lenexa, Kansas to raise DM awareness and funds in honor of their late daughter, Anna. To join the Paint and Poker Party fun in person, please click here.

MDF just kicked off the new year with our annual two-day strategic planning offsite. The planning team included DM researchers, board members and staff. Read on for some highlights of our plans for 2016 and progress to date on our 3-year drug development acceleration effort, MDF 3.0: Driving Drug Development.

Kathie Bishop, Ph.D.
Tioga Pharmaceuticals
San Diego, California

Member, Scientific Advisory Committee (SAC)
Myotonic Dystrophy Foundation (MDF)

MDF Fellows report on the current status of their research findings. Featuring: Dr. Ranjan Batra, PhD, University of California San Diego; Dr. Viachaslau Bernat, PhD, Scripps Research Institute Florida; Dr. Melissa Hinman, PhD, University of Oregon; and Dr.

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.

Since the discovery of the mutation causing DM1 was discovered in 1992, researchers have been trying to understand how the DNA mutation causes such a wide variety of symptoms. A new study may have found a genetic link between DM and Duchenne muscular dystrophy, potentially explaining the progressive muscle deterioration that occurs in adults with DM1

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.

Several scientists have published the results of important DM research. Dr. Katharine Hagerman, PhD, Research Assistant at Stanford University, has provided MDF with lay summaries of some of this research.

The MDF Fund-a-Fellow program is designed to help attract new researchers to the DM field, increasing the knowledge and science available regarding myotonic dystrophy. We are pleased to announce this year’s award recipients!

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.

Chad Heatwole, MD, MS-CI, of the University of Rochester (presentation); Sarah Howe of the Marigold Foundation (

MDF Fellows Ayal Hendel, PhD, Stanford University (presentation); Suzanne Rzuczek, PhD, Scripps Research Institute 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.

Dr. Darren Monckton explains the current research concerning the significance of CTG repeats for persons with DM1.

Join the Myotonic Dystrophy Family Registry; you could win an iPad! 

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

...Is it larger with maternal transmissions? Or is there an identical distribution between men and women?

DNA is the genetic material found in the nucleus of nearly every cell. A gene is a stretch of DNA that carries a set of instructions on how a protein should be made. These proteins carry out the functions of the body. Scientists estimate that humans have about 25,000 different genes.

Both DM1 and DM2 are passed from parent to child by autosomal dominant mutations. This means that the faulty gene is located on one of the chromosomes that does not determine sex (autosome) and that one copy of the mutated gene is enough to cause the disease (dominant).

Studies have been done to understand how these non-coding mutations could have a trans-dominant effect (i.e. how they could affect other genes not associated with the mutation locus).

Myotonic dystrophy is one of the most complex disorders known. In addition to the incredible variability of clinical symptoms, the disease also has unique mechanistic features:

Myotonic dystrophy is one of the most complex disorders known. In addition to the incredible variability of clinical symptoms, the disease also has several unique mechanistic features:

Tissues in affected individuals can have unstable expanded regions. Once repeat counts reach an approximate threshold (>35 repeats for DM1 and >75 repeats in DM2), these sequences become highly unstable in both the soma and germ line.

Myotonic dystrophy (DM) was the first autosomal dominant disease found to be caused by a repeat expansion that is transcribed into RNA, but is not translated into protein.

Because expansion of the CTG repeats commonly occurs during meiosis, the repeat count tends to increase over successive generations. As a result, children of affected individuals (including those with the pre-mutation) tend to experience more severe symptoms at an earlier age than their parent.

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

Genetic testing (also referred to as DNA testing) is a definitive diagnostic of whether or not a person has DM. DNA, the genetic material in the nucleus of cells, is isolated from a sample of blood or other tissue, and then analyzed to determine whether or not a specific mutation is present. 

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

Myotonic dystrophy is one of the most complex disorders known. In addition to the incredible variability of clinical symptoms the disease also has unique mechanistic features:

Myotonic dystrophy is a very complicated condition. The symptoms and disease progression can vary widely. The effects can be quite different even among members of the same family, so it is difficult to predict just how the disorder will affect you and your family.

In early May, the Foundation announced a Request for Applications for this year's MDF Fund-a-Fellow program. The Fund-a-Fellow program supports our commitment to Care and a Cure for myotonic dystrophy by attracting new investigators to the field of DM research, ultimately advancing DM science and the search for treatments.

Dr. Matt Disney and Dr. John Day provide an overview of the DM2 disease mechanism and describe how compounds can be designed as potential therapies for this disease.

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

Dr. Bruce Wentworth, Ph.D., of Genzyme, presents an overview of  ASO treatments, describing in lay language how they are intended to treat DM.


Timeline of key discoveries in myotonic dystrophy research since DM was first described in 1909.

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

Dr. Darren Monckton describes anticipation, the process by which the disease increases in severity as it is passed from generation to generation, a unique feature of myotonic dystrophy.


Watch Part 1 of this series.

Dr. Darren Monckton describes anticipation in myotonic dystrophy, the process by which the disease increases in severity as it is passed from generation to generation.


Watch Part 2 of this series

Making an initial diagnosis starts with a complete family history and physical examination. A person will also undergo a battery of medical tests, depending on the symptoms he or she is having. A key element of the evaluation is electromyography (EMG).

Judith Ranells, M.D., University of South Florida

Mani Mahadevan, M.D., FRCP, University of Virginia

Myotonic dystrophy is one of the most complex disorders known. In addition to the incredible variability of clinical symptoms the disease also has unique mechanistic features:

Darren Monckton, B.Sc., Ph.D., University of Glasgow

Katharine Hagerman, Ph.D., University of Rochester Medical Center

Katharine Hagerman and Darren Monckton answer questions from the audience. 

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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