• Nanion Technologies: イオンチャネル研究のスマートツール

    Nanion Technologies: イオンチャネル研究のスマートツール

  • SyncroPatch 384i: HTS Automated Patch Clamp

    SyncroPatch 384i: HTS Automated Patch Clamp

  • SURFE²R 96SE: ラベルフリーのトランスポーターHTS

    SURFE²R 96SE: ラベルフリーのトランスポーターHTS

  • Dynamic Clamp: Patchliner

    Dynamic Clamp: Patchliner

  • 脂質二分子膜実験: Orbitシリーズ

    脂質二分子膜実験: Orbitシリーズ

  • CardioExcyte 96 SOL: 心筋の光ペーシング

    CardioExcyte 96 SOL: 心筋の光ペーシング

Our Product Portfolio

SyncroPatch 384

SyncroPatch 384

Patchliner

Patchliner

Port-a-Patch

Port-a-Patch

Port-a-Patch mini

Port-a-Patch mini

CardioExcyte 96

CardioExcyte 96

FLEXcyte 96

FLEXcyte 96

SURFE²R 96SE

SURFE²R 96SE

SURFE²R N1

SURFE²R N1

Orbit 16 TC

Orbit 16 TC

Orbit Mini

Orbit Mini

Vesicle Prep Pro

Vesicle Prep Pro

04.06.2020 | Webinar: Decrypting variants of unknown significance in the channelopathies

icon sp96  SyncroPatch 384i Webinar

Date: June 4. 2020, 4:00 PM CET (10:00 AM EDT)

200506 blog image SyncroPatch Webinar Playback

Speakers: 

Rodolfo Haedo (COO; Nanion Technologies North America)
Dr. Jen Q. Pan (Director, Translational Neurobiology; Broad Institute of MIT and Harvard)
Prof. Al George (Magerstadt Professor and Chair - Department of Pharmacology;  Northwestern University - Feiberg School of Medicine)

Abstract:

Jen Q. Pan:
"Analyzing rare variants of CACNA1I derived from schizophrenia patients."

CACNA1I is implicated in schizophrenia susceptibility in GWAS. However, the directionality of the function in CACNA1I associated with the genetic risk is not known. Here, we performed extensive functional characterization on 57 naturally occurring missense variants of CACNA1I derived from a schizophrenia cohort of 10,000 subjects. CACNA1I encodes CaV3.3 neuronal T-type calcium channel and our biophysical and biochemical analyses of this coding allelic series of CACNA1I revealed critical structural-activity relationship on the function of CaV3.3 channels, and provides potential molecular phenotypes of CaV3.3 associated with schizophrenia risk.

Prof. Al George 
"Decrypting Variants of Unknown Significance in Channelopathy-associated Epilepsy."

His lab was the first to elucidate the functional consequences of an ion channel mutation linked to an inherited cardiac arrhythmia (Long-QT Syndrome). This discovery contributed greatly to understanding arrhythmia susceptibility in the disease and inspired use of drugs targeting persistent sodium current as a therapeutic strategy. In this talk, Al will dive deeper into his work and significance as it relates to associated Epilepsy. 


Access the Q&A from the webinar here

Back

We use cookies on our website. Some of them are essential for the operation of the site, while others help us to improve this site and the user experience (tracking cookies). You can decide for yourself whether you want to allow cookies or not. Please note that if you reject them, you may not be able to use all the functionalities of the site.