Evaluating channelopathies with high-throughput patch clamp<\/strong><\/li>\n<\/ul>\nSpeaker:<\/strong> Ivy Dick, University of Maryland<\/p>\nVoltage-gated Ca\u00b2\u207a channels (VGCCs) are critical for the normal function of excitable cells. Genetic mutations in these channels lead to various disorders affecting the heart and brain. Among them, CaV<\/sub>1.2 mutations are associated with Timothy syndrome (TS)which presents with long QT syndrome (LQTS), cardiac arrhythmia and neurodevelopmental delay or autism spectrum disorder.<\/p>\nWhile many CaV<\/sub>1.2 mutations are labelled as gain-of-function, the broad spectrum of patient symptoms suggests more complex underlying mechanisms. Instead, we propose that specific changes in channel biophysical properties underlie specific phenotypic outcomes:<\/p>\n\n\nImpaired inactivation is closely linked to cardiac arrhythmia and LQTS.<\/p>\n<\/li>\n
\nA leftward shift in voltage-dependent activation may be tied to neurodevelopmental symptoms in CaV<\/sub>1.2 channelopathies.<\/p>\n<\/li>\n<\/ul>\nHigh-throughput automated patch clamp enables biophysical studies linking the functional effects of the growing number of mutations with patient phenotype, providing a critical tool for understanding the pathogenic mechanisms of channelopathies. Here, we show how this platform can be used to identify mutation-specific changes in CaV<\/sub>1.2 gating and link them to clinical phenotypes, providing a powerful approach to functionally characterize the expand the landscape of disease-associated ion channel variants.<\/p>\n<\/h4>\n <\/p>\n
\nEnabling early drug discovery of lysosomal targets with the SyncroPatch 384 <\/strong><\/li>\n<\/ul>\nSpeaker: <\/strong>Iwan Williams, Cardiff University<\/p>\nFollowing success with Nanion\u2019s SP384 Research Grant, the Medicines Discovery Institute at Cardiff University has now integrated a permanent SyncroPatch 384 system into its workflow. The decision reflects the platform\u2019s significant impact on early-stage drug discovery.<\/p>\n
This presentation highlights how automated patch clamp has accelerated the team\u2019s research on lysosomal ion channels, with particular focus on TMEM175, a lysosomal cation channel permeable to both potassium and protons. TMEM175 plays a central role in lysosomal pH regulation and is increasingly linked to the pathogenesis of Parkinson\u2019s Disease.<\/p>\n
Using SyncroPatch 384-based assays, has enabled to:<\/p>\n
\n\nIdentify several promising activator and inhibitor chemical series through an ongoing structure\u2013activity relationship campaign<\/p>\n<\/li>\n
\nDevelop tool compounds for characterizing TMEM175\u2019s role in cellular homeostasis and disease<\/p>\n<\/li>\n<\/ul>\n<\/div>\n<\/div><\/div><\/div><\/div><\/div>
Date: June 12 2025
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