Areas of Interest: Neuroscience

Neural Development

Channelopathies are responsible for a range of brain disorders and are caused by abnormal ion channel function. There is a need for better understanding of the underlying pathophysiology of these channel-based disorders, as individuals presenting with clinical phenotypes are difficult to diagnose and treat.
 
Smith et al.,* discovered an unexpected association between one particular channelopathy, connecting sodium channels to cortical folding and brain development. They described an abnormal developmental disorder of the brain, polymicrogyria (PMG), that is associated with pathogenic variants in the sodium channel gene SCN3A. They showed that SCN3A is robustly expressed in cerebral cortex during fetal gestation but downregulated after birth. Conversely, SCN1A is lower during gestation and upregulated postnatally

           

 

They used the RNAscope® Multiplex Fluorescent Assay v2 in fetal human brain and revealed the highest SCN3A expression in the cortical plate (CP), which contains immature neurons, whereas the adult human showed very low SCN3A expression across all cortical layers.

In our recent Spotlight Interview Dr. Smith explains how the RNAscope® ISH assay, with its specificity and multiplex capabilities proved a critical assay for discovering novel findings that provide an important diagnostic marker, and challenge the accepted dogma of human cerebral cortical folding.


“The RNAscope assay was very helpful in discovering this, not only because we were able to confidently discern between the different sodium channels, but also because we could use the RNAscope Multiplex Fluorescent kit v2 in situ assay to co-localize gene expression with cell types.”
Richard S. Smith, PhD, Laboratory of Christopher A. Walsh at Boston Children’s Hospital, Harvard Medical School, Howard Hughes Medical Institute.


 

Read the complete interview or listen to the Podcast.

 

 

Read the interview

Read more publications on neural development

*Smith et al., Sodium Channel SCNA3 (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development, Neuron (2018). DOI: 10.1016/j.neuron.2018.07.052

 

 

 

Recorded Webinar

Channelopathies are responsible for a range of brain disorders and are caused by abnormal ion channel function. There is a need to better understand the underlying pathophysiology of these channel-based disorders, as individuals presenting with clinical phenotypes are difficult to diagnose and treat.

Post-Doctoral Research Fellow at Harvard Medical School, Dr. Richard S. Smith, spoke to us about how his research focus. His recent findings have shed light on an unexpected association between one particular channelopathy, connecting sodium channels to cortical folding and brain development.

He explained how the RNAscope® ISH assay, with its specificity and multiplex capabilities, proved to be a critical assay for the discovery of an important new diagnostic marker, challenging the accepted dogma of human cerebral cortical folding.

Listen to the interview

Application note

Learn more in our RNAscope® Neuroscience Application Review - Visualize gene expression and splice junctions at the single-cell level using the RNAscope® and BaseScope™ in situ hybridization assays

Visualize gene expression and splice junctions at the single-cell level using the RNAscope® and BaseScope™ in situ hybridization assays

Fill out the form below to download the application review:

Complete form to download PDF

Neuroscience Gene List

(click on gene name to access corresponding RNAscope® probes)

 

 

 

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