Myotonic Dystrophy Young Investigator Workshop

The New York Myotonic Dystrophy Center (NY DM Center) was established in 2023 under the leadership of RNA Institute Director Andy Berglund, with co-directors Kaalak Reddy and John Cleary, who combined, have over 50 years of experience in DM research. With support from the Marigold Foundation, a three day workshop was held from October 3-6, 2023 in Hudson Valley, NY with a focus on supporting young investigators in the DM field and mentoring them to be successful in competitive research environments. Participants to this invitation-only workshop were nominated by prominent DM investigators from around the world. Of the 91 attendees, 41 were early-career DM researchers (senior PhD, post-doctoral fellows & pre-tenure faculty) from 11 countries, along with established DM experts in both the clinical and research DM spaces from academia, government, and industry. DM ambassadors, which included patients and care givers from families dealing with DM every day, informed attendees from a very different perspective, including a DM clinical exam demonstration.

      Three keynote speakers provided the framework and questions for the participants in breakout sessions. Maury Swanson (UF) provided the “Past, present & future of DM research” overview, Adrian Krainer (CSHL) discussed “Lessons learned from other therapeutic programs” and Charles Thornton (URMC) presented “DM case histories from the future”. The workshop focused on building young investigator’s profession and personal DM networks, identifying new collaborations and career opportunities, strategizing on how to secure funding in DM research , and identifying gaps in current DM research and clinical approaches.

Group Photo of DM Young Investigators Workshop 2023

     One of the conclusion of the meeting was that due to the hypervariable nature of DM, the future of DM research and drug development will need to include a strong understanding of all aspects of disease pathology, including neurological and gastrointestinal, as well as the development of model systems, in particular for understudied DM2. A review of the workshop findings and actions for the future is currently being developed by the NY-DMC team.

The Importance of DM Ambassadors

DM Ambassadors and their families received DM research update from Dr. Tai of Avidity Biosciences (Top) and participated in a Q&A session (Bottom).

Patients, family members and community advocates are extremely important in building lasting relationships between the communities affected by genetic conditions and the researchers who are working on advancing the understanding of the biological mechanisms and producing therapeutic approaches for the conditions. Twelve DM Ambassadors and members of their families attended the DM workshop and provided stories of their families, journeys as caregivers, and DM advocacy which was published in the workshop handbooks to help build connections with the young DM investigators. DM Ambassadors and their families received an update from Dr. Li-Jung Tai from Avidity Biosciences, Inc. on their DM clinical trial (top right photo). The last morning of the workshop was devoted to hearing from the DM Ambassadors, including a Q&A session of patients and caregivers (bottom right picture) on what their daily lives look like and the struggles they tackle every day. Dr. Jacinda Sampson, Clinical Professor in Neurology at Stanford University and Neuromuscular neurologist at Stanford Medicine demonstrated a real clinical assessment with Mark Planco, DVM, who lives with DM every day (pictured left).  

Dr. Jacinda Sampson (Neuromuscular Neurologist, Stanford Medicine) demonstrated a real DM clinical assessment with Dr. Mark Planco (Doctor of Veterinary Medicine)