Title: 5th Annual Dysferlin Conference 11–14 July 2011, Chicago, Illinois, USA
Abstract: The fifth Annual Dysferlin Conference, sponsored and organized by the Jain Foundation, was held from July 11 to 14, 2011 in Chicago, Illinois. Participants included 34 speakers, 31 poster presenters, 14 dysferlinopathy patients and family members, 5 representatives from other muscular dystrophy foundations, and 12 members of the Jain Foundation team. The objective of the dysferlin conference is to discuss progress towards developing therapies for the dysferlinopathies, Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MMD1). These diseases manifest progressive muscle loss, usually beginning in the late teenage years, and are caused by mutations in the gene encoding dysferlin. The dysferlin protein is required for effective repair of muscle fiber membranes, but little is known about how this defect leads to the muscle loss experienced by patients, or if dysferlin is involved in other cellular processes that contribute to the pathology. The meeting addressed these and other issues specific to dysferlin deficiency, including the best tools for studying dysferlin and possible causes and interventions for the disease. Four dysferlinopathy patients from the Jain Foundation’s patient registry also shared their experiences with this disease, including the risk of misdiagnosis with polymyositis and the damaging outcome of prednisone treatment.
Publication Year: 2011
Publication Date: 2011-12-08
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 2
AI Researcher Chatbot
Get quick answers to your questions about the article from our AI researcher chatbot