HOW TO TAKE ACTION
HOW TO TAKE ACTION
Strength in Numbers (Mumbai, India 2019)
In November 2019, the Jain Foundation and CAMDND coordinated a Dysferlin Registry meeting in Mumbai, titled, “Strength in Numbers”. All registry members who live in India were invited to attend. However, travel was not feasible for many individuals. Therefore, most attendees were from the Mumbai area except for a few individuals, including one registry member who traveled all the way to Mumbai from near the Himalaya mountain area with the assistance of supporters. There were 38 patients in attendance and approximately 30 care givers/supportive friends or family of patients.
Talks were given by Jain Foundation Director of Outreach, Sarah Emmons regarding:
- The purpose of the Dysferlin Registry and the many ways the registry serves as a critical tool that is necessary to achieve our shared mission. One of the most prominent examples of the value of the registry, is how it sets us up to expedite future clinical trial recruiting
- The status of Jain Foundation programs/research strategy overview
- Gene therapy and emerging therapeutics for LGMDs
2B Empowered Conference 2016
The Jain Foundation hosted a second 2B Empowered Conference for 80 people in May 2016. Here are some highlights from that meeting.
Yumi Shim, a patient in her 30’s, married mother of a boy and a girl, gave the guests her story that tied in the 2016 meeting theme of ownership. For this 2nd meeting, the objective was for each patient to learn about their unique genetic situation and gain insight. Patient stories were woven throughout the meeting, strongly affecting both patients and caregivers.
Dr. Brad Williams, patient and Jain Foundation staff member, gave a lecture on genetics. Each patient was given a copy of their genetic report and used the information to follow the lecture and understand their mutation types.
Dr. Joseph Roche, physical therapist and assistant professor at Wayne State University, spoke about his exercise research for LGMD2B.
Dr. Renuka Roche, occupational therapist and assistant professor at Eastern Michigan University, described how to get the most out of occupational therapy.
2B Empowered Conference 2015
The Jain Foundation hosted a patient conference for US patients on May 26, 2015. Summaries of the talks and links to the recordings are available below. Handouts from a session on national resources available for dysferlinopathy patients are also linked below.
Dr. Doug Albrecht on Developing Treatments for Dysferlin Deficiency
Almost all individuals with dysferlinopathy who contact the Jain Foundation either begin or end their correspondence with us by asking: “Can you tell me what is happening?” or “How close are we to finding a cure for this devastating disease?”
Jain Foundation scientific director, Doug Albrecht, gave an overview of the Jain Foundation’s scientific strategy for therapeutic discovery and how/when/why we are supporting these areas of research. This was a targeted presentation with the goal to provide patients with an understanding of our current status: what we are studying/funding and what areas of scientific discovery are being pursued. In this presentation, specific therapeutic targets described include: gene therapy, gene editing, stem cell therapy, stop codon read through, exon skipping, chaperones and protein therapy. Here is the order of the topics presented:
Dr. Jerry Mendell on Gene Therapy
Dr. Jerry Mendell shares some of his experiences from a decade of research and the challenges his team has faced in developing gene therapy for muscular dystrophy.
Dr. Matthew Wicklund talks about Dysferlinopathies
Dr. Matthew Wicklund discussed the symptoms of LGMD2B/Miyoshi myopathies and how they are diagnosed.
Dr. Brad Williams on Patient Advocacy
Brad Williams, Director of Research and advocacy leader explains why and how the patient an equal partner in the quest to get therapies to the clinic. Learn about how you play a critical role in ways you may not have known about before.
Dr. Laura Rufibach talks about COS
Jain Foundation Vice President of Clinical Strategies, Laura Rufibach presented preliminary data from the International Clinical Outcome Study (COS) for Dysferlinopathy. Each person involved in this three year study is helping to bring our LGMD2B/Miyoshi myopathy community closer to therapeutic interventions. Sharing the learnings from the study is exciting and encouraging as we hope this information can be used in the discovery of future treatments and for the management of future treatments.
Resources for patients with dysferlinopathy
One patient at the conference lead a discussion on the various resources that are available for dysferlinopathy patients across the US. Download the handout from the discussion here.