3rd Annual Dysferlin Conference 2-5 June 2009, Boston, Massachusetts, USA.

摘要

The 3rd Annual Dysferlin Conference, held from June 2-5, 2009 in Boston, MA, USA, brought together leading scientists and clinicians to discuss recent progress towards understanding and developing a therapy for the dysferlinopathies, Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi myopathy. These diseases involve progressive muscle wasting, typically beginning in the late teenage years, and are caused by mutations in the gene encoding dysferlin [1,2]. Dysferlin is required for repair of muscle fiber membrane tears [3,4], but little is known about how this defect contributes to disease pathology or whether dysferlin is also involved in other cellular processes. The conference was sponsored and organized by the Jain Foundation, and participants included 37 invited speakers, 10 additional scientists and clinicians, 40 poster presenters, 5 dysferlinopathy patients, 3 representatives of other muscular dystrophy foundations, and 7 members of the Jain Foundation scientific team. Research was presented from 11 countries around the world. Prior to the start of the main conference, a satellite meeting on the design of a natural history study for dysferlinopathy came up with specific recommendations about issues specific to this disease, including the high clinical variability, small patient numbers, and slow disease progression.