How can a small heat shock protein cause big problems in muscle and nerve cells?

This episode explores HSPB8, a key player in chaperone-assisted selective autophagy (CASA), which helps clear misfolded and damaged proteins. What neuromuscular disorders are linked to HSPB8 mutations? How do specific variants — from missense to frameshift — give rise to distal hereditary motor neuropathy (dHMN), Charcot–Marie–Tooth disease type 2L (CMT2L), and myopathy with rimmed vacuoles? We break down the toxic gain-of-function mechanisms driving disease and highlight emerging therapeutic strategies, from small molecules to RNA-based approaches. Based on the latest review by Professor Hebatallah R. Rashed, Dr Samir R. Nath, and Professor Margherita Milone in the International Journal of Molecular Sciences, this episode brings you cutting-edge insights into HSPB8 biology and pathogenesis.

Episode 2 – Introduction to HSPB8 Myopathy: What You Need to Know

In this episode, we break down HSPB8 Myopathy, a rare genetic condition that causes progressive muscle weakness and degeneration. We’ll explore how mutations in the HSPB8 gene lead to the formation of rimmed vacuoles in muscle fibers, and why genetic testing is so important for diagnosing the condition. Whether you're affected by the condition, a clinician, or a researcher, this episode will provide a clear understanding of the disease and its genetic basis.

Episode 1 – Our Mission, Our Vision, Our Voice

Welcome to the Cure HSPB8 Podcast. In this inaugural episode, we share how and why Cure HSPB8 came to be — and what drives our mission to improve the lives of everyone affected by HSPB8 Myopathy. You’ll hear about the challenges of diagnosing and treating this ultrarare disease, our strategic goals, and how we’re building a global community around hope, science, and advocacy. Whether you're newly diagnosed or a seasoned researcher, this series will inform, connect, and inspire.