Abstract
The Fourth International Workshop for Glycosylation Defects in Muscular Dystrophies took place on April 16- 17, 2015 at the Fairfield Inn and Suites Charlotte Uptown, Charlotte, North Carolina. The workshop was hosted by the McColl-Lockwood Laboratory for Muscular Dystrophy Research, and sponsored by the Carolinas HealthCare Foundation, the Muscular Dystrophy Association (MDA), funds raised by “Riding 4 Research” and generous support from the McColl and Lockwood families. Clinicians and scientists from the US, UK, Germany and Japan presented a total of 21 talks spread out over 2 days. The workshop was divided into three sessions: Session A focused on the current status of the development of animal models for diseases caused by defects in muscle-protein glycosylation, on our current understanding of such glycosylation and on the mechanisms that lead to disease. Session B focused on preclinical therapeutics, in particular on AAV- and drug-based therapies. Session C covered the clinical management of muscular dystrophies and endpoint evaluation.
Highlights
Since the most recent workshop 2 years ago, significant progress has been made in key areas of dystroglycanopathy research
Dystroglycanopathies manifest as a spectrum of phenotypes, ranging from mild limb girdle muscular dystrophy 2I (LGMD2I, characterized by later onset and near normal life span) to severe congenital muscular dystrophies such as WalkerWarburg syndrome (WWS) and muscle-brain-eye disease (MBE)
The most common form of dystroglycanopathy is limb-girdle muscular dystrophy 2I (LGMD2I), which is associated with mutations in fukutin-related protein (FKRP)
Summary
Since the most recent workshop 2 years ago, significant progress has been made in key areas of dystroglycanopathy research. The workshop was attended by an unprecedented number of individuals from universities and independent companies with an interest in becoming involved in developing therapies for these diseases. This workshop represented a new stage in dystroglycanopathy research, with the key genes in the pathway leading to the functional glycosylation of α-DG discovered, and their major functions understood. We expect to see the focus shift toward experimental therapies and clinic trials tailored for dystroglycanopathies. Such developments will be exciting for patients, parents, and their representative charities
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