The ACTA2 Alliance will host its third international conference on Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS) in Boston, USA. This event will bring together families, clinicians, and researchers from across the world to discuss this extremely rare genetic condition, which is caused by specific mutations in the ACTA2 gene.
MSMDS is associated with severe complications, including thoracic and abdominal aortic aneurysms and dissection, particularly in children and young adults. The condition affects smooth muscle cells throughout the body and is often identified by signs such as fixed dilated pupils, vascular abnormalities, and neurological symptoms. The conference will focus on the latest clinical approaches to diagnosis and management, as well as updates from ongoing research efforts, including the Natural History Study and early-stage gene therapy development.
Key sessions will address aortic repair and replacement in MSMDS, the genetics of ACTA2-related diseases, and shared mechanisms with other inherited vascular conditions. Presenters include Dr Dianna Milewicz, a leading researcher in aortic dissection, and Dr Patricia Musolino, who specialises in neurovascular complications in rare diseases.
This event will provide valuable insights for professionals and families affected by ACTA2 mutations, many of which are known to contribute to thoracic aortic aneurysm and dissection (TAAD), among other vascular disorders.
Programme topics include:
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Aortic disease management in MSMDS
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ACTA2 gene mutations and associated conditions
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Progress in systemic gene therapy for vascular disorders
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Resources for family advocacy and support
For more information and to access the online stream if you are unable to attend in person, please visit the ACTA2 Alliance website.
