President's Letter (2011 Conference)

Dear Scientists, Physicians and Patients,

Over the past year, the dysferlin field has given me cause for both hope and despair. Hope came from the success of the 2010 Dysferlin Conference, where I felt for the first time a true feeling of collaboration and family among the dysferlin community, and also from numerous recent scientific advances in research and tool development. Interspersed with these successes, however, were reminders of the many challenges—both scientific and non-scientific—that we face in our mission to cure dysferlinopathy.

Some of the scientific challenges that we encountered include the failure of multiple laboratories to reproduce the dysferlin-null blebbing defect that had been presented at a previous dysferlin conference. In addition, two potential therapeutic avenues, gene editing and adipose-derived stem cells, are no longer being pursued as a result of data that established these approaches as ineffective.

We understand that there will be many of these scientific failures and dead-ends along the way to tackling dysferlinopathy. However, this makes us even less tolerant of unnecessary, man-made challenges that are thrown in our path by “the system” of science, including the reward system that de-incentivizes open communication and collaboration and the funding culture in which receiving a grant is an end point rather than a beginning. A significant portion of our effort as a foundation has been spent overcoming challenges created by this system of science, which is simply unacceptable when research is funded by patient families who have donated their hard-earned money for a targeted scientific purpose. If we are to be defeated in our attempt to cure dysferlinopathy, we owe it to the patients to ensure that we are only defeated by the science, not by the system.

We know and appreciate that many of you attending this conference are in solidarity with our mission and our vision of collaboration and teamwork within the dysferlin community.  We hope you will continue to be a part of our family and will convey this same sense of solidarity to other attendees who are new to the conference or to the field.

I am encouraged by the fact that a symbiotic partnership is emerging between the Jain Foundation and all of you, the community of dysferlin researchers. We, of course, depend on your hard work to move scientific understanding of dysferlinopathy forward. We hope that you are also beginning to see a benefit in your own research from the foundation’s efforts to provide resources, facilitate information exchange within the community, and actively brainstorm with you on scientific ideas. The Jain Foundation has evolved into a team of dysferlin experts with the ability to synthesize information from across the community and suggest new research directions. I hope you will treat us as partners in planning and overseeing your dysferlin research projects; similarly, please do not hesitate to approach me at any time during or after the meeting to offer your ideas and suggestions for additional approaches that we can take towards a cure. You will find a comprehensive illustration of the approaches we have identified on the inside back cover of this booklet. In addition, please make use of the list of essential dysferlin-related research tools and resources that is available on pages 4-5 of this booklet.

Please understand that the passion and urgency with which we approach dysferlin research comes from the fact that we hold ourselves accountable for finding a cure. Every success and every failure or loss of time is felt personally by the entire Jain Foundation team, and our motivation is clear and simple: to find a cure for dysferlinopathy as quickly and efficiently as possible.

Ajit, Tinku, Akshay, and I thank you for your participation in this conference and for all of your efforts on behalf of patients suffering from this disease. We have particularly high expectations for this year’s conference because we believe that much of the groundwork for moving forward scientifically has been laid: most essential research tools are now available, and it is now clear which facts in the dysferlin field are robust and which need to be critically re-examined. We hope that this conference will be the catalyst for rapid scientific advances that take off from these foundations and lead us to a cure. I leave you with the spirit of this year’s conference motto: Full Speed Ahead!

Sincerely,

Plavi Mittal, PhD
President & CEO, Jain Foundation

State of the Foundation: A Short Update