Originally presented on September 11th, 2021 as a part of the DM1 & DM2 Tracks at the 2021 Virtual MDF Annual Conference.
A panel of experts will explain what a clinical trial is, what it takes to develop a trial, which trials are currently enrolling, and how members of the DM community can participate to advance research.
Speakers include:
Originally presented on September 10th, 2021 as a part of the DM2 Track at the 2021 Virtual MDF Annual Conference.
Myotonic dystrophy type 2 (DM2) is a complex disease caused by a rare genetic mutation which can affect many systems of the body, producing symptoms that can vary in type and degree from person to person. Learn about the broad range of basic science, clinical studies, and other research approaches that are currently being explored to reduce the burden of DM2 for individuals and families.
Presented by Laura Ranum, PhD.
Originally presented on September 10th. 2021 as a part of the DM2 Track at the 2021 Virtual MDF Annual Conference.
Learn about genetic factors causing DM2, the different body systems affected, the most common symptoms, and how best to manage and provide care for the disease from a leading expert. Appropriate for newly diagnosed and those living with DM2 for many years.
Speakers include:
Learn about the current developments in DM2 research. Moderated by Dr. Johanna Hamel of University of Rochester. Panelists will include Dr. Paloma Gonzalez-Perez of the Massachusetts General Hospital, and MDF Research Fellows Dr. Raphael Benhamou of Scripps Research Institute and Dr. Jana Jenquin of University of Florida.
Presented during the Understanding DM Research and Progress Track at the MDF 2020 Virtual Conference.
About the presenters:
Johanna Hamel, MD
Dr. Hamel is a neuromuscular specialist and assistant professor of neurology, pathology and laboratory medicine at the University of Rochester, NY. She cares for patients with myotonic dystrophy type 1 and type 2 in clinic and conducts clinical research studying outcome measures and the disease mechanism, along with Dr. Charles Thornton and the UR Wellstone Center DM research team. She was awarded the 2017 Clinical Research Training Fellowship in Muscular Dystrophy cosponsored by the American Academy of Neurology, Muscular Dystrophy Association and American Brain Foundation for her project focused on DM2 and studies on the underlying mechanism of RNA toxicity. Her first contact with patients with myotonic dystrophy type 2 dates back to when she was a medical student in Germany, which prompted her to pursue a career in neurology. After working in Berlin for 2 years as a resident and researcher, she completed her neurology residency and neuromuscular fellowship in Rochester, NY.
Jana Jenquin, PhD
After receiving her undergraduate degree in biochemistry, Jana worked as an analytical and quality assurance chemist in industry. In 2014, Jana decided to continue her education at the University of Oregon in the Department of Chemistry and Biochemistry to obtain her doctorate in biochemistry. Jana transferred to the University of Florida in 2015 when her research advisor, Dr. Andrew Berglund, accepted a faculty position with their Department of Biochemistry and Molecular Biology. Her research in the Berglund group primarily focused on small molecule therapeutic approaches for myotonic dystrophy (DM). Her thesis work aimed on understanding the mechanisms through which the class of molecules known as diamidines functioned to reduce the toxicity of expanded CUG and CCUG repeats in DM (Jenquin et al, ACS Chemical Biology 2018). Jana also showed that an oral version of furamidine (pafuramidine) combined with erythromycin could be used as an oral combination treatment to rescue more events than either drug alone (Jenquin et al, ACS Pharmacol. Transl. Sci. 2019). Dr. Jenquin has chosen to remain in the DM field and is pursuing her postdoctoral training through a joint appointment in the lab of Drs. Eric Wang and Andrew Berglund at the University of Florida.
Raphael Benhamou, PhD
Raphael I. Benhamou obtained his B.Sc. degree in Chemistry and Biology with honors and his Ph.D. from Tel Aviv University, Israel, focusing on the development of new antimicrobial drugs in the lab of prof. Micha Fridman. From December 2018, he is a postdoctoral fellow at Scripps with Dr. Matthew D. Disney and starting in 2020 is a MDF fellow. His main research interest resides in the design of small molecules to drug toxic RNA repeat expansions causing myotonic dystrophy type 1 and 2. His work in the lab is majorly focusing on developing rational and predictable approaches to design highly selective therapeutics for myotonic dystrophy type 2. The experience gained from this work has contributed to both the overall advancement towards development of small molecule therapeutics in myotonic dystrophy and also in achieving his long-term goals, which is to work at the interface of chemistry and biology in deciphering disease mechanisms, identifying novel targets and subsequent drug discovery efforts in the field of neurodegenerative diseases. Moreover, this training provides him the tools and the knowledge, preparing him for a future career as an independent investigator. Paloma Gonzalez-Perez, MD, PhD Dr. Paloma Gonzalez-Perez is a MD, PhD and neuromuscular neurologist at Massachusetts General Hospital, where she directs the Myopathy Clinic and conducts research in the field of muscular dystrophies at Dr. Thurman Wheeler’s lab. She obtained her MD at University of Navarra (Spain), and completed two Neurology residencies, at University Hospital Virgen del Rocio in Seville (Spain) – her home town- and University of Iowa, as well as the Partners Neuromuscular fellowship. She obtained her PhD in genetics of ALS as result of her work in Dr Robert Brown’s lab at University of Massachusetts Medical School. She was a recipient of the NINDS R25 fellowship and has been recently awarded with a Clinical Research Scholarship by the Muscle Study Group in collaboration with the American Academy of Neurology and American Brain Foundation to investigate molecular biomarkers in myotonic dystrophy type 2.
Presented during Myotonic's Friday Afternoon Webinar Series.
This webinar presents an overview of multi-systemic aspects in DM2, including an update on cognitive deficits, CNS imaging techniques, coping with COVID-19 and DM2, and a research update emphasizing molecular mechanisms which could assist in better prognosis of DM2.
About the Presenter:
Giovanni Meola, MD
Università degli Studi di Milano
Dr. Meola is a clinician who has been interested in the field of neuromuscular disorders since 1975. In particular he is an expert in the diagnosis and management of myotonic dystrophies and non-dystrophic myotonias. He is the chairman of the neuromuscular center at IRCCS Policlinico San Donato, the national referral center for myotonic dystrophies and in particular for DM2. As a researcher, he developed the diagnosis of DM2 on muscle biopsy by FISH and on muscle channelopathies by specific clinical and genetic protocols. He has been the keynote lecturer and chairman at several international meetings, including IDMC.
Dr. Jacinda Sampson, joined by Dr. Ian Bowler, presents on the complications experienced by people living with myotonic dystrophy when they are subjected to anesthesia and, as importantly, other pain medications that can create similar complications and risks. This is critically important information for every DM family member and attending clinician to know. From the 2017 MDF Annual Conference.
In celebration of National Family Caregivers Month (November 2015), Myotonic hosted a session on the benefits of having a meditation practice. The webinar was hosted by Dr. Genie Palmer, a former associate professor and researcher at Sofia University.
A panel of physical therapy professionals and people living with DM discuss ways to stay physically fit.
Panel discussion by Dr. Katy Eichinger, PT, DPT, University of Rochester; Mike Hamlin, DM Community Member; Dr. Leslie Krongold, EdD, Myotonic.
Dr. Richard Moxley of the University of Rochester addresses different endocrine problems that challenge patients with mytonic dystrophy types 1 & 2, how they can lead to symptoms and be associated with alterations in blood test measurements, known treatments to mitigate potential symptoms and future opportunities to develop better understanding of these endocrine problems.
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.