Making human neurons is a particular expertise of the lab.  Below is an example of ventral midbrain neurons derived from human skin.  The video shows calcium current fluctuations in individual dopaminergic cells, where this pace-making ability is a particular feature of this cell type (400ms/frame).



The RNDL at McGill University has three main themes:

1) Identification and functional assessment of genetic variation from individuals with rare neurodevelopmental disorders.  This project involves genome sequencing and making neurons from somatic cells .  We use use several techniques to find cellular phenotypes associated with genetic variation including RNAseq, ChIPseq, electrophysiology, and DNA methylation sequencing.


2) Functional assessment of genetic variation of known neurodevelopmental disorders in patient-derived brain cells that we make from skin, blood, or urine.  Some neurodevelopmental disorders have a known association with genetic mutations; however, in many cases how these mutations lead to disease is unknown.  This project aims to dissect the molecular pathways that lead from mutation to disease.  The lab focuses on metabolomic, dosage sensitive, or epigenetic disorders.


3) Viral, Antisense RNA, or small molecule therapeutics for disease treatment. 


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