The MDF community recognizes that we cannot let up in our efforts to vigorously advocate for our fair share of federal funding for research and medical care to achieve our goal of care and a cure for myotonic dystrophy.
Care Tools Articles
MDF is thrilled to announce Angie Wiggans as the 2020 recipient of the MDF Above & Beyond Award! Angie earned this community award for her spectacular vision and success in planning a brand new grassroots campaign to help advance DM therapies.
In January of 2021, MDF officially embarked upon on a six-month strategic planning process. MDF seeks to identify new community needs, build upon our successes and strengths, gain deeper engagement with our partners, and define key priorities and outcomes to ensure future success.
In response to the many questions received by MDF regarding the COVID-19 vaccines, MDF’s medical advisory panel has prepared the following FAQs.
On behalf of the MDF Board of Directors and staff, I would like to thank you for helping make 2020 a triumphant year. During a year full of surprises and unknowns, when it is easy to recall the challenges we have all experienced, I am especially proud of the major transitions we have made together. Our community has shown incredible resilience, innovation, and flexibility.
Each month until the MDF Annual Conference in September, biotechnology and pharmaceutical partners, large and small, working on treatments and a cure for myotonic dystrophy will sit down with our community to share their progress and answer your questions.
Do you have questions for DM doctors and therapists? Join us in 2021 for a series of “Ask-the-Expert” sessions with DM clinicians in diverse specialties.
We simply cannot express the strength of our gratitude for everyone who participated in the Myotonic Dystrophy Foundation (MDF) 2020 Virtual Gala! We are truly blown away by the incredible outpouring of generosity and support.
Dr. Katharine Hagerman and Lisa Harvey-Duren share their experience with the Stanford Biobank. Donating the tissue or other clinical specimens of a loved one will help advance treatments for myotonic dystrophy and provides hope that our family and friends will have a better future.
The U.S. Supreme Court met the week after the 2020 election to hear oral arguments in a case which could overturn the Affordable Care Act (ACA), also known as “Obamacare”, and eliminate protections for millions of Americans living with pre-existing conditions like myotonic dystrophy.
We are delighted to invite you to the Myotonic Dystrophy Foundation (MDF) 2020 Virtual Gala. This one hour live streamed event will celebrate and support the MDF's critically important work on behalf of individuals and families living with myotonic dystrophy.
I hope that you and your families are safe and well. Even though COVID-19 has presented many challenges, I would like to share with you a wonderful Myotonic Dystrophy Foundation success story that only came about because of the pandemic. Rather than taking a year off, the MDF hosted its first virtual annual family conference, which took place three weeks ago.
The MDF Team would like to extend a huge thanks to our Summer Volunteer, Mollie Allred, for completing our series of US Financial Resources!
Since our founding in 2007, Myotonic Dystrophy Foundation advocates have been educating Congress on the need for increased myotonic dystrophy research funding, working with the Social Security Administration to eliminate red tape for individuals with congenital myotonic dystrophy, and leading initiatives with the U.S. Food and Drug Administration to accelerate drug development and better understand the desires of individuals living with myotonic dystrophy.
Over the last six months, our new CEO had the privilege of speaking with hundreds of stakeholders throughout the DM ecosystem. Through these discussions, a clear pattern emerged that the adoption of the shortened name “Myotonic” was not having the positive impact intended.
Community advocate Suzette Ison recently participated in the evaluation of research applications submitted to the Peer-Reviewed Medical Research Program (PRMRP).
Our industry partners working towards therapies and a cure for myotonic dystrophy are interested in learning more about our community. They hope to connect with community members via one hour video calls to help evaluate their research strategies.
Have you shared your personal or family story yet? Already have a featured family story that needs to be updated? Help inspire others by sharing your journey with DM.
How has the Myotonic Dystrophy Foundation impacted your life? Please submit a 30-60 second video clip sharing your story about how the Foundation has impacted you!
Joel Revill has been a member of the Myotonic Board of Directors since 2018 although he’s long been connected to the community through his close friends.
Our annual conference brings together families, researchers and other community members from all over the world to connect, learn and bond over Care and a Cure. After significant discussion and careful consideration, our Board of Directors has voted to postpone our Family Conference due to the COVID-19 Pandemic.
Much is happening around us and the extraordinary effort we have all placed into transitioning our world to a home-based model is truly unbelievable. So I write you today with a simple reminder: Myotonic is here for you.
Three years ago, the myotonic dystrophy community achieved a major victory in our work to better understand the causes of the disease and discover treatments and ultimately a cure. Since becoming an eligible condition for PRMRP funding, researchers have been awarded $6.1 million in federal grants to study myotonic dystrophy.
Myotonic is excited to announce multiple new resources will soon be available for download from our website! We hope you and your clinicians find these documents a valuable resource for your care and symptom management needs.
Our staff would like to recognize Serena Master, MPH, for her outstanding work as Myotonic's CARE intern!
We are excited to share that on May 23, 2020 Myotonic will be moving to a new location just across the San Francisco Bay into downtown Oakland!
Miles is a cute, stuffed animal lion that has traveled the world to support for children diagnosed with myotonic dystrophy over the last 5 years.
In these everchanging times, it’s more important than ever to focus on the people that bring us joy. We are launching the #MyGratitude campaign to do just that.
12 leading DM1 pulmonologists in Western Europe, the UK, Canada, and the US joined together to create the Clinical Care Recommendations for Pulmonologists Treating Adults with Myotonic Dystrophy Type 1.
This month’s advocacy update provides a brief report on our ongoing efforts to increase federal funding for myotonic dystrophy research and includes practical information for community members in need of health insurance coverage during the COVID-19 pandemic.
Cooking Video Contest Winners!
A letter from our CEO with updates on the Annual Conference, an introduction to our new Friday Afternoon Webinar Series, and new Support Group opportunities during the COVID-19 Pandemic.
We understand that this is a very challenging time and we would like to provide tips for patients, caregivers, and medical providers on the use of noninvasive positive pressure ventilation (NIPPV) if you have been exposed to this virus or have symptoms of COVID-19 infection.
Residents of the Bay Area in California, including Myotonic staff, are under strict Public Health orders to Shelter in Place for the next several weeks. We want to be sure you know that all Myotonic staff are prepared for this shift and have been successfully working from home. Myotonic is open, our website is active, and our resources are available.
10 leading DM1 cardiologists in Canada, Japan, Western Europe, the United Kingdom, and the United States joined Myotonic to create the Consensus-based Care Recommendations for Cardiologists Treating Adults with Myotonic Dystrophy Type 1.
The 2020 Myotonic Congressional Leadership Award was presented to Rep. Adam Schiff, an early supporter of our efforts to add myotonic dystrophy to the DoD's Peer Reviewed Medical Research Program (PRMRP) who recently worked to secure a visa for a critical DM fellowship.
Following a rigorous application process and review, Myotonic congratulates recipients of the 2020 Fellowship Awards. Trainees could apply for support for projects focused on basic, translational, or clinical research in myotonic dystrophy (DM).
On March 3, 2020, Loraine Dressler presented to about 40 first and second year medical students at UC Irvine School of Medicine on behalf of the myotonic dystrophy (DM) community.
Northern Califronia Support Group Facilitator shares her RDD2020 experience. Dr. Leslie Krongold speaks on her efforts to raise awareness and advocate on behalf of the myotonic dystrophy community during Rare Disease Month.
Over 150 friends and family joined the Dillon Family to raise nearly $33,000! It was a beautiful day in Columbus, OH to celebrate Rare Disease Day 2020 at the golf range. Friends family, and supporters enjoyed a brunch, raffle, and compelling stories from Myotonic Community Members!
Myotonic is concerned that the new coronavirus (COVID-19) may have a disproportionate impact on people and families affected by myotonic dystrophy so we are reaching out to share resources and ensure you are informed.
Since 2017, PRMRP has awarded over $6 million for new myotonic dystrophy research projects. To continue this progress and increase myotonic dystrophy research funding, we need your help!
Over 70 community members attended a Community Call covering upcoming events like Rare Disease Day, tips for planning your own event and an advocacy update.
New data helps understand deficits in lower extremity sensorimotor control in DM1.
A new publication shows reversibility of cellular pathophysiology in a CDM cell line after CRISPR/Cas9-mediated repeat excision.
Prescribing metformin for DM1-associated type 2 diabetes may reduce the elevated cancer risk associated with this patient group.
A small pilot study reports experiences with use of a CBD/THC cocktail to mitigate symptoms in DM patients.
Loraine Dressler from Huntington Beach, California is the main caregiver for her grandson Zen, who was diagnosed with congenital myotonic dystrophy at birth. His severe disabilities haven’t stopped her from traveling with Zen, and she has great experience to share with Myotonic community members who have mobility challenges.
New DM1 mouse models demonstrate differential susceptibility of specific cell types to repeat expansion and mis-splicing.
Pursuit of a cardiac biomarker for DM may have yielded a biomarker of overall DM1 severity.
Dr. William D. Arnold, Neurologist at the Ohio State Wexner Medical Center, kicked off an educational presentation about myotonic dystrophy to 25 second and third year medical students.
Myotonic appreciates Dr. Wilma Koopman’s hard work in disseminating the DM1 Clinical Care Recommendations to the Canadian nursing community!
New prospective data provides insights into the incidence, circumstances, and consequences of falls in patients with DM1 and DM2.
A new assay for small molecules targeting expanded repeat expansions in DM1 is published.
Modeling muscle network deterioration as a means of understanding disturbances of gait in DM1.
New protocols useful for research in DM are published in Springer’s Methods in Molecular Biology series.
It's a wrap! Over 450 attendees, including almost 300 family members and caregivers, attended the 2019 Myotonic Annual Conference to learn, connect and improve their quality of life.
Myotonic often gets questions from the community about adaptive devices that can help people living with DM manage activities of daily living, especially with tasks around the house. Our fabulous support group facilitators helped put together this list.
The organization you have known since its founding as the Myotonic Dystrophy Foundation has a new name, a new logo and a new look!
A review synthesizes the literature into a molecular genetics model of CDM and suggests more answers lie in research on DMPK locus epigenetics.
A concise summary of genome editing efforts in DM1 to date and a look at gaps in getting to an approved therapeutic.
A new study provides insights into how families communicate a diagnosis of DM1.
Epigenetic modifications linked to the pathomechanism of CDM may also play a role in the severity of DM1.
When Carl Shotwell was exploring graduate programs, he came across a fellow in Andy Berglund’s lab at the Center for NeuroGenetics at the University of Florida, who described the work she was doing on myotonic dystrophy.
Myotonic's Camp JOA (juvenile-onset adults) was the first-ever nationwide camp for adults with DM.
Myotonic DM Days brings together clinicians, researchers and myotonic dystrophy (DM) family members for educational and networking opportunities.
Myotonic currently sponsors 24 active support groups around the US and internationally, in addition to our online and phone based groups.
Data validating a novel commercial method for sizing expanded DMPK repeats in DM1 is published.
The DM-Scope registry model supports the leveraging of clinical research to improve both therapeutic development and patient care.
A MSH3 variant modifies expanded repeat stability and age of disease onset in HD and DM1.
Occurrence of interruptions in expanded CTG repeat tracts represents a key factor in understanding genotype/phenotype correlations in DM1.
With Myotonic in a very strong position, Molly White has announced her intent to hand over the reins of the organization to a new CEO later this Fall.
Shruti Choudhary’s doctoral work in medicinal chemistry at Duquesne University in Pittsburgh had been focused on cancer and infectious diseases, but when she completed her degree, she turned her attention to myotonic dystrophy. She felt there were plenty of researchers focused on cancer and saw a far greater need to address neurodegenerative conditions.
I met Erich Maurer in early 2013. Before Myotonic had Facebook groups, it operated a closed online portal that functioned like a bulletin board with threaded discussions. Erich had posted that he was looking for other gay men with DM1, and I eventually sent him a message that I was a gay woman with DM1. And thus a lovely correspondence began.
Kayla Vittek, with her mother, Lisa Harvey-Duren, was a leading advocate for the DM community, regularly appearing in news stories and on television, serving as a Youth Ambassador for Easterseals and participating in the MDA telethon. To remember Kayla, who passed away from heart-related complications in April 2019, Lisa created a fundraising campaign in her memory, and Myotonic is presenting an outstanding community advocate award at the Myotonic Annual Conference this Fall.
Many of our community members have joined closed Myotonic Facebook groups to network, share information and make friends in the DM community. Myotonic offers private Facebook groups for people with DM1, DM2, JOA, Caregivers, and many more!
A new clinical trial is underway to study the safety, tolerability and pharmacokinetics of ERX-963, a potential therapy for symptoms of excessive daytime sleepiness that may include impaired attention or concentration. The first site for that study, Stanford University, is now recruiting, under the direction of Principal Investigator Jacinda Sampson, MD, PhD.
Did you know that Myotonic has 22 in-person support groups throughout the country, and 5 virtual support groups?
Northern California Myotonic Support Group Facilitator Leslie Krongold hosted Myotonic Family Day at Great America in the San Francisco Bay Area on April 7th!
Myotonic has had a busy few months of activity in Washington, DC, continuing our efforts to secure research funds, engage lawmakers and make our presence known on Capitol Hill in 2019.
Myotonic is pleased to announce the publication of the first-ever Consensus-based Care Recommendations for Congenital and Childhood-onset Myotonic Dystrophy Type 1 and Myotonic Dystrophy Type 2.
Defective insulin signaling activation may underlie skeletal muscle wasting in DM1 and DM2.
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.
Myotonic will host a Workshop on CNS involvement in DM and the development of outcome measures for CNS-targeting therapies on September 12, 2019, in conjunction with the Myotonic
Nationwide Children’s Hospital and Ohio State University have operated a 5-day myology training course for the last seven years. The course includes common lectures in the mornings and separate clinical and laboratory tracks in the afternoons.
Recent announcements from three biotechnology and pharmaceutical companies reflect the increasing interest in and tractability of myotonic dystrophy for therapy development. Short summaries and links to the press releases are provided here.
Dr. Vincent Dion awarded $250,000 grant to pursue gene editing technology development to find a cure for DM.
The Myotonic Dystrophy Clinical Research Network (DMCRN) sites are currently conducting a critically-important research study designed to help drug developers successfully design clinical trials and understand how to assess the efficacy of potential therapies.
Myotonic designed this volunteer initiative to educate the next generation of medical professionals about myotonic dystrophy in order to improve clinical care and shorten the diagnostic odyssey. We need you!
Disorders of sleep and breathing are well characterized for DM1, but what about DM2?
A new review looks at the opportunities and hurdles for genome editing in neuromuscular disease.
Respiratory dysfunction in DM1 draws new attention.
Daily activities and social participation are assessed in a longitudinal study of DM1.
Dr. Melissa Dixon at the University of Utah Department of Pediatrics is conducting a study to learn more about how congenital myotonic dystrophy (CDM) and childhood-onset myotonic dystrophy affect thinking, memory, attention, brain function, and how these processes change over time.
A large natural history study of children with DM1 may form the background for subsequent development of evidence-based case management guidance.
A new review article synthesizes published data on health-related quality of life in adult-onset DM1.
DM patient and family member/caretaker assessments of the burden of disease form the basis of a recent publication.
A new longitudinal study focuses on CNS function in congenital and childhood DM1.
What do Myotonic Fellow Dr. Anwesha Banerjee and DM dad Paul Dillon have in common? Besides inspiring others, they both chose to raise awareness and critically-needed funds for Care and a Cure for myotonic dystrophy though Facebook Fundraisers.
Following a rigorous application process and review, Myotonic announces recipients of the 2019 Myotonic Fellowship Awards.
The Department of Defense’s 2019 Peer Reviewed Medical Research Program will again accept grant applications for research on myotonic dystrophy.
A novel lab-on-chip system can speed processing and high sensitivity analysis of expanded repeat sequences, thereby improving the molecular diagnosis of DM.
A new bi-transgenic mouse with fluorescent reporters incorporated into a mini-gene allows sensitive, in vitro monitoring of DM1-related alternative splicing.
A new review article addresses advances in exploiting the biology of RNA with small molecule drug strategies.
A novel genome editing strategy removes expanded CUG repeats in DMPK transcripts.
TREAT-NMD’s TACT process provides unbiased feedback on drug development programs in neuromuscular diseases.
I am a caregiver. My husband, two of my adult children, and my 6 year old grandson all have DM1. Though I’ve been their wife, mother, and grandmother for many years, it’s only recently that I’ve realized how important the title of my role is … caregiver.
Myotonic advocate Glen Wiggans, MD recently participated in the evaluation of research applications submitted to the Peer-reviewed Medical Research Program (PRMRP) sponsored by the Department of Defense. Glen was nominated for participation in the program by Myotonic. As a consumer reviewer, he was a full voting member of the review panel, along with prominent scientists, to help determine how the $330 million appropriated by Congress for Fiscal Year 2018 will be spent on PRMRP research.
DTI detects specific changes in the corticospinal tract, reflecting cortical gray matter volume reductions linked to DM1 motor function deficits.
Development, validation, and use of CNS clinical outcome assessments in DM1 must consider their interactions with other parameters of patient functioning.
An innate immune response pathway, the induction of interferon type 1, rather than activation of autophagy, is responsible for impaired myogenesis in CDM.
Myotonic has hired a branding and design agency, A Line Studio, to review the Myotonic brand (our logo, name and the visual identity that defines us) and determine how to best remove the confusion between Myotonic and other organizations, and evolve and breathe new life into the Myotonic brand.
A literature review suggests meta-analysis of cognitive studies in DM1 is both feasible and can inform understanding of disease mechanisms and patient management.
A new study lends support for a DM biomarker panel based upon patient urine exRNA assays that may serve as a pharmacodynamic biomarker for go/no go decisions in drug development for DM1.
A new review looks at the cross-disease evidence for RAN translation’s contributions to pathogenesis.
New evidence links mis-splicing of Scn5a to cardiac conduction defects and arrhythmias in DM.
When Haukur Svansson began studying neurological disease as part of his work towards an undergraduate degree in psychology at the University of Iceland in Reykjavik, he began to feel ashamed of himself for not knowing more about Vöðva og Spennuvisnun, the Icelandic term for myotonic dystrophy.
Myotonic and our community advocates have again successfully partnered with congressional leaders to include myotonic dystrophy in the Peer-reviewed Medical Research Program (PRMRP) of the U.S. Department of Defense.
Myotonic is pleased to announce the publication of the first-ever Consensus-based Care Recommendations for Adults with Myotonic Dystrophy Type 1.
Publication of a new systematic review provides insights into clinical outcome measures for DM2.
Induced pluripotential stem cells (iPSCs) from DM2 provide new tools for CNS-focused mechanistic and translational studies.
A new publication finds a complex mechanism of action of furamidine in DM1 models.
As a young cardiologist, Dr. Denis Duboc didn’t think it made much sense that his fellow specialists would treat patients with myotonic dystrophy (DM) and other muscle diseases as if they were treating other cardiology patients. Since becoming a researcher, his work has focused on better ways to provide care for DM patients.
David Berman was abruptly introduced to myotonic dystrophy when his wife Sarah gave birth to their daughter Zoé in December 2007. Doctors were immediately concerned with her floppiness and inability to feed. For the first few days of her life, Zoé was fed with formula in a tiny tube that ran along one of her parents’ fingers and into her mouth. This still required enormous effort by Zoé, and the doctors feared that feeding might be burning more calories than it provided.
Peer-reviewed Medical Research Program (PRMRP) consumer advocate Suzette Ison recently participated in the evaluation of research applications submitted to the PRMRP sponsored by the Department of Defense. Suzette was nominated for participation in the program by Myotonic, located in San Francisco, Califronia. As a consumer reviewer, she was a full voting member, (along with prominent scientists) at meetings to help determine how the $330 Million appropriated by Congress for Fiscal Year 2018 will be spent on PRMRP research.
Close monitoring of respiratory function reduces respiratory complications in DM1.
Myotonic has released a Request for Applications for projects that address the evaluation of genome editing strategies for DM1. The focus of this RFA is early stage discovery and development of in vivo genome editing technologies. Up to two awards of $250,000 each are planned.
NIAMS issues new funding opportunities that encourage innovative research—really!!
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.
A key driving factor behind DM1 is the instability of expanded CTG repeats in DMPK, resulting in both germline and somatic expansions in repeat length. Variant CCG-containing CTG repeats are more stable and yield a milder phenotype than corresponding “pure” DM1 alleles.
One of the challenges faced by doctors treating patients with myotonic dystrophy type 1 (DM1)—and drug developers designing clinical trials—is the broad difference in the way the disease manifests itself and progresses from patient to patient. MDF Scientific Advisory Committee member Dr. Guillaume Bassez, a neurologist at the Institut de Myologie in Paris, has identified subgroups of the DM population to help address this issue.
Myotonic is pleased to announce that Carolyn Valek has been selected to serve as a Consumer Reviewer for the myotonic dystrophy Peer Review in the 2018 Department of Defense Congressionally Directed Medical Research Program (CDMRP).
MDF strongly encourages patients, families, clinicians, and researchers to respond to the NIH’s Request for Information on the Wellstone Center Program.
A new U.S. National Academy of Sciences (NAS) report—Returning Individual Research Results to Participants: Guidance for a New Research Paradigm—should be read by all clinical researchers.
The OPTIMISTIC clinical evaluation of exercise training and cognitive behavioral therapy paradigms comes to publication.
Feasibility is demonstrated in mammalian models for a therapeutic strategy that increases MBNL by sequestering MBNL-suppressive miRs.
That’s a wrap! The first-ever A Damn Good Time: Party to Make Myotonic Dystrophy History (#DGT4MDF) was held Thursday, June 7th at Sony Hall in New York City.
The University of Rochester held a tribute program entitled “A Celebration of a Pioneering Career in Neuromuscular Disease” May 31- June 1, 2018 in honor and celebration of Richard T. Moxley’s distinguished career as a clinician and researcher with a significant focus and commitment to myotonic dystrophy. MDF created a short video to celebrate Dr. Moxley's incredible impact.
Myotonic honored both Senator Dick Durbin and Senator Diane Feinstein with Myotonic Congressional Leadership Awards for their outstanding work and support in getting myotonic dystrophy added as an eligible research area in the U.S. Department of Defense (DOD) Peer-Reviewed Medical Research Program (PRMRP) for Fiscal Year 2018 (FY18).
Insights on the mechanisms that underlie muscle atrophy in DM are provided by studies in a new mouse model.
The RNA binding protein, rbFOX1, competes with MBNL in binding to CCUGexp, but not CUGexp repeats, and thereby mitigates DM2.
The review journal, Frontiers in Neurology, is publishing six new articles on myotonic dystrophy.
Intronic GC-rich microsatellite expansions are common in neurological disorders and act to trigger the intronic retention that underlies disease pathogenesis.
Methodology is reported for robust and reliable quantification of mutant and abberantly spliced RNA in cells from DM patients.
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”.
When cardiologist Dr. William J. Groh examined a young woman with an arrhythmia in 1995, he thought it was unusual. She did not have known heart disease or heart failure that would normally be associated with a serious heart rhythm disturbance. What she did have, though, was myotonic dystrophy (DM).
Human iPSC-derived cardiomyocytes recapitulate some features of the DM1 heart.
Subcellular compartmentalization of MBNL1 plays a key role in regulation of neurite differentiation and its disruption may contribute to CNS defects in DM.
The National Human Genome Research Institute has issued new funding opportunities for research targeted using a patient’s genomic information to inform clinical care.
When the 11th meeting of the International Myotonic Dystrophy Consortium (IDMC-11) met in San Francisco in September 2017, Dr. Giovanni Meola was in attendance, as he has been since the first biennial meeting in Paris, France, in 1997.
A new publication details organization of and data from a Canadian neuromuscular disease registry.
A new scoring system identifies key risk factors and a novel tool for assessment of DM1 patient life expectancy.
Speech disorders (dysarthria) in CDM and childhood-onset DM1 have long been recognized and surveillance by speech and language therapists is an important aspect of patient care. Facial weakness and myotonia, and involvement of oral cavity, palatopharyngeal and respiratory muscles, are known to contribute to speech impairment.
Chimeric proteins elucidate mechanisms of MBNL binding and regulation of alternative splicing, and suggest a path to optimize therapeutic strategies for DM.
Conceptually sound strategies exist to repair or replace defective genes that cause disease—what will it take to ensure these are safe and effective?
A novel optical imaging approach helps characterize the central nervous system phenotype of DM2 mice.
Myotonic holds an offsite planning meeting in January every year to look at the Care and Cure landscape for myotonic dystrophy. The annual goals are to identify urgent and high-impact opportunities to improve the quality of life of every person living with this disease while continuing to accelerate the search for therapies.
After a new review of the literature, the question of comorbidity of childhood DM1 and autism spectrum remains an open one.
MDF received fourteen applications from the U.S., Canada and Western Europe for the December fellowship proposal review, and is pleased to join with the Wyck Foundation to fund 4 new pre- and post-doctoral Fellows.
Expansion Therapeutics, a company founded on the basis of Dr. Matt Disney’s research, has received $55.3M in Series A financing to develop therapies for DM and other diseases.
Myotonic, in partnership with MyotonicUK and other donors, has announced $700,000 in funding to increase the number of sites in the Myotonic Dystrophy Clinical Research Network (DMCRN), and enable critically important new research.
Myotonic has been awarded a $1M donation by an anonymous family in the DM community to launch development of gene editing technology to pursue the search for a cure for DM1.
Discovery of the holy grail for DM therapy development-- drug registration endpoints -- lies in the dogged pursuit and sharing of natural history data.
A new study examines the role of the GSK3β—cyclin D3—CUGBP1 pathway in the pathogenesis of DM1 and its potential as a therapeutic target.
Development of a mini gene tool facilitates the identification of candidate therapeutics targeted at dissociating MBNL from expanded CUG repeats.
Increased skin cancer risks in DM1 are captured in a new, longitudinal electronic medical records study.
A recent publication suggests that a serum protein may ultimately have value as a biomarker for conduction system abnormalities in DM.
Myotonic is deeply saddened to report the passing of Andrew B. Linbeck, a devoted and passionate supporter of the Foundation who promoted Care for people living with DM. Andrew passed away on November 8th, 2017 in Houston, Texas.
Myotonic is pleased to announce that the U.S. Senate has, for the first time ever, included myotonic dystrophy as part of the Department of Defense’s premier biomedical research program – the Peer-Reviewed Medical Research Program.
CRISPR is an exploratory strategy with potential for treatment of RNA-triggered diseases. Will DNA or RNA targeting prove to be the best approach for DM?
Genetic and epigenetic mechanisms drive differences between CDM and DM1—a new study elucidates downstream signaling pathways that underlie their diverse phenotypes and represent putative therapy development targets for CDM.
Age and gender impact the onset and progression of DM2, but the pattern shows both similarities and differences from that of DM1.
Judy Marks remembers getting sick at age 32 and feeling like it was the worst flu she ever had, only it didn’t go away. Her doctor dismissed it at first as being all in her head. Her sister thought she was faking it to get attention. Her mother-in-law said she was “lazy.”
A number of community members have asked Myotonic why the Foundation is not listed on the Charity Navigator (CN) website with a ranking on our financial stability and use of funds. The requirement that our community members join CN and provide their personal data is something we are unwilling to ask the Myotonic community to do.
Margaret Czajka has written a moving story written about her family’s struggle to find a diagnosis and navigate life with a neuromuscular disease in Poland.
It would be easy to conclude that insulin resistance and diabetes in myotonic dystrophy is a product of mis-splicing of INSR transcripts—but is that the full story?
Toxic RNA-mediated mis-splicing and Repeat-Associated Non-AUG (RAN) translation proteins are impacted by free MBNL1 levels and contribute towards CNS pathogenesis in DM2.
To develop new therapies for patients living with myotonic dystrophy (DM), specific infrastructure and information needs to be in place to make clinical trials feasible. The information needed for CDM trials is likely to be different than that used for adult trials.
After a year of outreach and education, Myotonic has successfully convinced the Social Security Administration (SSA) to list congenital myotonic dystrophy (CDM) in its Compassionate Allowances program, significantly easing the application and review process.
AMO Pharma released interim results for a Phase 2a safety and toxicity study of Tideglusib (also known as AMO-02) for adolescents and adults with congenital myotonic dystrophy.
New data is available on the frequency, progression and treatment of GI symptoms in DM1 and DM2.
A new review article assesses the current status of and recommends future directions for brain imaging studies in DM1.
Given the brain manifestations of DM1, how aware are most patients of the impact and progression of their disease?
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.
A novel redirection of CRISPR/Cas9 technology addresses toxic RNA, rather than the genome, as a potential therapy for DM1 and DM2.
Understanding cardiac and other DM risk factors and planning for the known complications of DM that may affect you can help protect and maintain your quality of life and that of your loved ones.
A new study points to the timing of MBNL-dependent RNA processing defects as a major factor in the pathogenesis of CDM.
Although fatigue represents a substantial burden in DM1, tools must be validated to assess its diverse contributing factors in order to develop clinical trial endpoints and effective therapies.
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.
A recent review article makes the case that DM is a brain disease and that better understanding of and treatment strategies for the neurological consequences of DM are essential.
MDF staff recently attended the 2017 annual meeting of the American Academy of Neurology, in Boston, MA. Here are highlights from that meeting.
Myotonic held the first myotonic dystrophy (DM) Patient-Focused Drug Development (PFDD) meeting with key senior leaders from the Food and Drug Administration (FDA) as part of the 2016 Myotonic Annual Conference in September 2016.
There have been new discoveries in the way that congenital myotonic dystrophy (CDM) is inherited.
Myotonic is happy to help you understand whether something is in a legitimate clinical trial, an approved therapy…or not.
Important review articles on disease mechanisms of and therapy development for DM have recently been published.
The UK DM Patient Registry reports on disease burden for 556 patients with a confirmed diagnosis of DM1.
A new DM1 mouse model, with postnatal expression of expanded CUG repeat RNA in the brain, implicates reduced MBNL1 and MBNL2 in the staging of pathological and functional changes.
Epigenetic modifications upstream of an expanded DMPK allele may underlie the maternal bias in the inheritance of CDM.
A multi-center study suggests serum cardiac troponin-1 levels predict risks of left ventricular dysfunction in DM1 patients.
In March, Republican Members of the U.S. House of Representatives’ Committee on Ways and Means and the U.S. House Committee on Energy and Commerce introduced legislation, entitled the American Health Care Act (AHCA), that would repeal and/or replace major parts of the Affordable Care Act (ACA).
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.
Clinical trials involve substantial investments by drug developers, but especially by DM patients and families. Clinical trials proposed for our community must have adequate scientific rationale behind them.
MDF runs down some important changes in the purposes and rationale of NINDS funding mechanisms for postdoctoral fellows.
FDA released an online course to accompany their draft guidance on how to best communicate with the Agency in preparing and filing an IND.
Gene editing is a potential avenue for therapy development in DM. With the safety, efficacy and delivery challenges, how do we get there?
Myotonic's youngest fundraiser? Six-year-old Asher Adleberg! The Myotonic community has done an amazing job of hosting parties, golf tournaments, crawfish boils, foot races and other events to support Care and a Cure for DM. We have some amazing stories to share, and some fun upcoming events you might want to put on your calendar.
When Dr. Thurman Wheeler was a resident in neurology, he remembers a senior physician telling him that myotonic dystrophy would probably be one of the most difficult diseases to treat because it involves so many body systems.
Sleep studies are indicated for DM1 patients with disrupted sleep or daytime sleepiness in order to direct selection of the optimal treatment regimen.
Studies of AMPK/mTORC1 signaling in DM1 identify novel therapeutic targets for DM, and may offer an opportunity to repurpose approved drugs for both muscle and cognitive symptoms.
In 2016, Myotonic’s Warmline received many phone calls from Myotonic community members who struggled to complete the application process for federal and state disability benefits, and who needed guidance on how to navigate the complex application process.
Biomarkers of various Contexts of Use are essential for drug development in DM—recent guidance documents and publications point to exciting new opportunities.
Longitudinal assessment of cognitive function in adult- and late-onset DM1 reveals a pattern of cognitive decline that can be modeled as an early-onset and acceleration of normal aging.
Thanks to the hard work and commitment of advocates from the Myotonic community and many others, critical legislation has moved forward that will accelerate the approval of new drugs and medical devices to treat and cure rare diseases like myotonic dystrophy.
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 Myotonic.
In November, Myotonic staff met with the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Institute of Neurological Disorders and Stroke (NINDS) senior leadership and program/policy staff to discuss research opportunities and federal support for myotonic dystrophy (DM). Discussions focused on two areas: the scientific workforce and biomarker and registration endpoint development.
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.
In a recent study by Dr. Richard Moxley, III, MD, and colleagues at the University of Rochester, researchers assessed disease manifestations and adherence to medications for DM1 and DM2 patients. The study was motivated in part by the fact that DM patients need to take multiple prescriptions to manage disease symptoms associated with a number of different body systems.
Laura Renna, Ph.D., thinks there may be more to the insulin resistance story in myotonic dystrophy than abnormal insulin receptor splicing. She intends to probe the question by testing three insulin mimetics in cells taken from DM patients and age-matched controls.
Ginny Morriss, Ph.D., is exploring whether reducing levels of the CELF1 protein, which are abnormally high in DM1-affected skeletal muscles, has a positive effect on these muscles. She’ll be studying mice in which disease-causing repeat expansions can be induced at any age.
Analysis of data from the French DM-Scope registry lend support to a five-grade model of DM1 that may help guide patient management, biomarker and modifier gene discovery, and clinical trials.
A recent publication suggests that the DM field may be on the cusp of having a critically important molecular biomarker to facilitate decision-making in early-stage clinical trials.
Congratulations to our Community Leadership Award winners: Loraine Dressler, Carolyn Valek and Eric & Taylor Jensen! Click here to learn more about the amazing work they do for Care and a Cure.
Myotonic held the first myotonic dystrophy Patient-Focused Drug Development meeting with key senior leadership from the Food and Drug Administration (FDA) as part of the 2016 Myotonic Annual Conference. We designed the meeting to build on the work Myotonic has been conducting with the FDA to define and optimize the regulatory pathway for potential DM therapies. The meeting, the first Externally-Led PFDD meeting and the largest PFDD meeting held to date with over 200 attendees in the room and online, is helping change the way the FDA understands DM, the DM community and the approach to regulatory review for DM therapies.
An improved understanding of the mobility of toxic RNA in DM1 has come from muscle precursor transplantation studies.
A new review article looks at efforts to target DM disease mechanisms with small molecule compounds.
Steps are taken to help resolve the adequacy of functional outcome measures for interventional clinical trials in DM1.
New studies in mouse models show that constitutive or acquired loss of Dmpk has no effects on skeletal or cardiac muscle function.
Since DM1-related loss of muscle mass confounds a common biomarker of kidney dysfunction, creatinine levels, serum cystatin C provides a superior measure of renal dysfunction for both patient management and clinical trials.
A recent study corroborated increased susceptibility to cancer in DM1, for women in particular, and linked the elevated risk to depressed levels of a tumor suppressor microRNA (miRNA).
Dr. Gallais and his team are conducting a longitudinal study of cognition and central nervous system involvement in DM1. Read an interview with Dr. Gallais on this work here.Highlights from IDMC-10
Myotonic has awarded new grants to develop phenotypic mouse models of DM as well as new DM1 and DM2 cell lines. Read more about these new partnerships.
A new study from Dr. Dimitri Renard and his team applies metabolic imaging to identify brain regions affected in DM1. Read about their findings here.
MDF and the Wyck Foundation 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.
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.
“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.
Our Staff recently attended the annual BIO convention, the meeting and partnering place for the biotechnology and pharmaceutical industry. BIO is about opportunities—opportunities for learning and working together to foster new drug development. Myotonic engaged key industry leaders in discussions of therapy development in DM, exchanging information on existing DM drug discovery and development, as well as opportunities for launching new DM programs.
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.
Myotonic and MyotonicUK 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.
Myotonic and its international team of clinical care partners just met in Miami to draft consensus-based Care Considerations for doctors, pharmaceutical companies and federal regulators reviewing potential therapies. Read more in this article.
A former Myotonic 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.
The FDA will have the final say on whether therapies developed to treat myotonic dystrophy (DM) are approved for US patients, and they want to hear from DM patients to help with their decision-making. Join the DM Patient-Focused Drug Development Meeting and let the FDA know what it is like to live with DM, and what you want from upcoming therapies.
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. Dixon at the University of Utah has been awarded a 2016-2017 postdoctoral fellowship for her research applying fMRI to evaluate connectivity networks in the brains of children with congenital-onset myotonic dystrophy (CDM). Read more here about the work of Dr. Dixon and her colleagues.
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.
MDF’s Outreach Director and Support Group Trainer, Leslie Krongold, has moved on from MDF in order to realize a dream that will also benefit the DM community. Read more here to learn about the podcast program she is launching, Glass Half Full, and find out how MDF is continuing to expand on the resources she helped us build.
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.
Myotonic has awarded a 2016-2017 postdoctoral fellowship to Dr. Ian DeVolder at the University of Iowa to study CNS-related impacts of DM1.
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 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.
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 Myotonic that examined data from the Myotonic Dystrophy Family Registry and the National Registry for DM and FSHD. Read a summary of the findings written by Katharine Hagerman, PhD, Research Assistant at Stanford University.
Anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics.
Many Myotonic community members are aware of an important, multi-year Myotonic effort -- Myotonic 3.0: Accelerating Drug Development -- because we published an article on the launch of this initiative in early 2015. Read a full report on the first-year results of Myotonic 3.0: Accelerating Drug Development, and the initiatives we are pursuing to promote the development of new DM therapies.
We review and share links to judges' remarks and footage of "Hazel," a film from artist Jacqueline Donachie of Northumbria University.
Researchers from the University of Rochester recently published a paper examining the symptoms and impact of myotonic dystrophy type 2 (DM2). They found that the most commonly reported symptoms of DM2 are not, in fact, the ones that have the highest reported impact on daily living.
Myotonic 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.
Myotonic is pleased to welcome Laura Ranum to its Scientific Advisory Committee (SAC). Dr. Ranum, who joined the SAC in summer 2015, is an internationally known investigator of disorders that result from repeat expansion mutations, such as those that cause type 1 and type 2 myotonic dystrophy (DM1 and DM2).
The Myotonic Dystrophy Foundation partnered with Silicon Valley Research Group to develop a survey to better understand how people with DM weigh the benefits of new treatments again the risks.
As part of our investment in the development of effective treatments for myotonic dystrophy, Myotonic is helping develop what is called "benefit/risk" information for regulatory agencies reviewing potential therapies.
Myotonic is pleased to welcome Tom Cooper, MD, to our Scientific Advisory Committee (SAC). Dr. Cooper, who joined the SAC in summer 2015, is a renowned myotonic dystrophy (DM) investigator whose laboratory has made major contributions to understanding the molecular pathogenesis of the disease and pointing the way toward rational therapeutic development.
In honor of National Family Caregivers Month, and to celebrate the many critically important caregivers in the Myotonic community, we’ve taken a look at the status of caregiving today.
Myotonic hosted the Myotonic Dystrophy Patient-Centered Therapy Development Meeting in Washington, D.C. on September 17, 2015. The regulatory workshop featured speakers from academia, industry and the FDA.
Conjugation of morpholino phosphorodiamidate oligomer (PMO) ASOs to a cell-penetrating peptide improves their bioavailability and efficacy in skeletal muscle of a DM1 model.
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. Myotonic 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.
The 21st Century Cures Act (H.R. 6) is a rare bipartisan initiative launched by the House Energy and Commerce Committee. While there are many factors that drove this effort, fundamentally it was a recognition that despite significant medical progress, there are 10,000 known diseases or conditions, but we only have cures and treatments for 500 of them.
Participating in a clinical trial or research study is a major responsibility, so we have partnered with the leaders of current clinical trials and research studies to give you the best information about successful participation.
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 Myotonic 3.0 Roadmap is available for your review. Myotonic has pledged our resources to a number of significant aimed at accelerating Care and a Cure for the next three years.
French geneticist Dr. Geneviève Gourdon has developed mouse models to study the mechanisms responsible for DM's genetic repeat, and possible ways to combat the damage this repeat causes.
Researchers at the University of Florida, led by Dr. Tetsuo Ashizawa, recently published a study in which they developed a strategy for DM1 stem cell therapy involving gene modification.
As a clinician and researcher, Dr. Benedikt Schoser of Ludwig-Maximilians University of Munich, Germany, is focused on how research findings can be translated into improved patient care - and how patient concerns can help guide researchers to new areas of interest.
FDA's Orphan Drug Program is designed to encourage pharmaceutical companies to develop drugs for rare or 'orphan' diseases that might otherwise not be appealing to industry.
February is American Heart Month, and MDF has partnered with Drs. Katharine Hagerman and Marianne Goodwin to highlight important research on cardiac issues in myotonic dystrophy for our readers
To support myotonic dystrophy drug development efforts, Myotonic held a science workshop in September 2014 at our annual conference. The workshop brought together more than 50 DM researchers and industry representatives from around the world to review where we are in the development of clinical trial endpoint measures for DM.
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.
Dr. John Vissing and his colleagues at the University of Copenhagen recently tracked a group of 68 adults with myotonic dystrophy type 1 (DM1), measuring their endocrine function change over 8 years.
On Friday, September 26, 2014, the MD-CARE Amendments were signed into law by President Obama!
The 2014 MDF Annual Conference, which occurred Friday, September 12 and Saturday, September 13, was a singular success, featuring oversold registration, an unparalleled number of researchers, pharma and biotech partners and federal agency representatives, and a number of impressive programmatic "firsts."
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.
A comprehensive multidisciplinary DM clinic is scheduled to launch late 2014 at the University of Iowa Hospital providing easily accessable services for patients.
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.
The DMCRN was established a little over three years ago to evaluate potential DM treatments, prepare possible clinical trial sites and conduct important DM research studies.
Ionis Pharmaceuticals, Inc. (formerly Isis Pharmaceuticals, Inc.) announced today that it has launched a Phase 1 clinical trial for IONIS-DMPKRX. IONIS-DMPKRX is designed to reduce the production of toxic dystrophia myotonic-protein kinase (DMPK) RNA in cells, including muscle cells, for the treatment of Myotonic Dystrophy Type 1 (DM1).
Researchers identify the gene believed to be responsible for adverse statin drug side effects in DM2 patients.
Stanford University has launched the DM Biobank to provide high-quality DM biological samples to researchers around the world. By participating in the Biobank, DM community members can play an important role in the development of new therapies that may help patients today and for generations to come.
A recently published study from Sweden reported impaired facial recognition in people with DM1 and indicated that there are brain differences that affect how faces are perceived and stored by people with DM1.
Interesting Findings Reported in Recent DM Research Studies on Sleep Disturbances
SAN FRANCISCO, CA (March 28, 2014): Myotonic has published the results of its first-ever Fund-a-Fellow Program Assessment measuring the impact of the first five years of its post-doctoral fellowship grant program.
Myotonic community members often contact the Foundation with questions about genetic testing. We spoke with Carly Siskind of Stanford's Neuromuscular Team about the pros and cons of testing.
Dr. Richard Moxley, Director of the Wellstone Muscular Dystrophy Cooperative Research Center at the University of Rochester and a global leader in DM clinical care and research recently talked with MDF about his long and exceptionally distinguished career in neurology.
Researchers at important academic labs around the US have recently published exciting new information about advances in DM research.
Researchers at important academic labs around the US have recently published exciting new information about advances in DM research.
To support our commitment to DM research, Myotonic awards fellowship grants to postdoctoral researchers as part of our annual Fund-A-Fellow (FAF) program. We recently caught up with one of our current grant recipients, Dr. Nicholas Johnson, Assistant Professor of Neurology at the University of Utah.
Dr. Danielle Sheypuk, a licensed psychologist in New York, NY, was the presenter for our most recent webinar—the last for 2013— titled “Coping with Depression Associated with Having a Chronic Health Condition.”
Researchers from the University of Rochester recently summarized the “diagnostic odyssey” experienced by a group of 814 individuals with myotonic dystrophy.
Timeline of key discoveries in myotonic dystrophy research since DM was first described in 1909.
Nicholas Johnson, MD, and researchers at the University of Rochester recently published an article in The Journal of Child Neurology that describes the impact of childhood and congenital myotonic dystrophy on quality of life.
It is with great sadness and heavy hearts that the Myotonic mourns the passing of our founding chairman, Shannon Lord, who passed away on June 4, 2013.
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
Methylphenidate, a psycho-stimulant drug, also known by its 1948 trademarked name of Ritalin, could be useful in the treatment of excessive daytime sleepiness (EDS) for DM1 patients, according to a recent study conducted by The Department of Human Genetics at the Centre Hospitalier Universitaire de Quebec in Quebec City, Canada.
Myotonic is pleased to announce its most recent round of Fund-A-Fellow postdoctoral fellowship research grant awards. In January 2013, Myotonic awarded two $100,000 grants to postdoctoral Fellows working in universities and research facilities
A generic cardiovascular drug called mexiletine, initially developed to treat heart rhythm abnormalities, appears to hold some potential for treating muscle stiffness and other symptoms of non-dystrophic myotonias (NDMs),
It's a wrap! A sold-out gathering of over 300 DM families, researchers, medical professionals and vendors from the U.S., Canada and countries as far-flung
When the Olympic Torch blazes across the UK on its way to the London 2012 Olympics, Margaret Bowler, founder and National Coordinator of the Myotonic Dystrophy Support Group (MDSG), will be one of the 8,000 inspirational
Circular RNAs that play a role in myogenesis are dysregulated in DM1 skeletal muscle.
A new study examines approaches to determine DM1 study subject progenitor allele length.
Multivalent ligands show bioavailability and efficacy in targeting splicing defects in DM1.
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.
ROSEVILLE, CA (January 25, 2012): Myotonic is pleased to announce its largest-ever round of Fund-A-Fellow postdoctoral fellowship research grant awards.