Hal Dietz discusses the role of genetics in spinal CSF leaks
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Hal Dietz discusses the role of genetics in spinal CSF leaks
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In this episode of In Conversation With, Morgane Boillot, Senior Editor at The Lancet Neurology, speaks with connective tissue disorders — including Marfan syndrome — and human genetics expert Hal Dietz from Johns Hopkins Medicine (Baltimore, USA) about the genetics of spontaneous spinal CSF leaks.
Together, they explore the clinical presentation, diagnosis, and current treatment of spontaneous spinal CSF leaks, and discuss genetic findings revealing rare deleterious variants in FBN2, the gene encoding fibrillin-2, in patients with type 1b leaks. The conversation covers translational and mechanistic findings — including CRISPR-Cas9 mouse models and cellular interactions with the extracellular matrix — and what these reveal about the underlying biology of fibrillin-1 and fibrillin-2-related disorders. It also addresses the potential clinical implications of these findings, and Professor Dietz shares his hopes for their use in therapeutic development.
Click here to read the full article:
https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(26)00140-7/fulltext