Disease modelling using Organoids and Single Cell Transcriptomics

Organoids are mini-organs grown in the dish using 3D differentiation systems and have been shown to be an important tool in precision and regenerative medicine, as well as drug discovery research. When combined with the power of single cell transcriptomics, which enables transcriptomic information to be measured on thousands of single cells in a complex tissue structure, has proven to be a useful approach for investigating the underlying pathways resulting in a disease phenotype.

In late 2023, researchers from Institute of Molecular Biotechnology of the Austrian Academy of Science (IMBA), Vienna, Austria, Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland and Department of Neurology, Medical University of Vienna, Vienna, Austria published the article Single-cell brain organoid screening identifies developmental defects in autism in Nature.

This groundbreaking research was able to characterise loss of function phenotypes of high-risk autism spectrum disorder (ASD) genes using various developmental stages of patient derived brain organoids. spanning many different cell types using cerebral organoids. This work was also able to identify particular cell types at risk of ASD perturbations [1].
CMRI’s Stem Cell and Organoid Facility offers a range of stem cell services, including an end-to-end workflow (iPSC reprogramming and maintenance, differentiation, organoid development and functional analysis) for a range of organoids including, but not limited to, cortical, whole cerebral, cardiac, and kidney organoids.

Single Cell transcriptomic assays as well as Bioinformatic analysis can easily be incorporated into this workflow using CMRI’s single Cell Analytics and Bioinformatics Facilities. This specialised Research Facility, located at CMRI, is able to offer researchers a range of single cell transcriptomic assays including:           
 
3’ gene expression           
5’ V(D)J and Immune profiling with T and B cell enrichment            
Multiome (ATAC + Gene Expression)           
Multiplexing•              Nuclei isolation             
Visium Spatial Gene Expression (Frozen and fixed samples)

For more information on CMRI’s Stem Cell and Organoid, Single Cell Analytics and Bioinformatics Facilities, please contact Joshua Studdert (jstuddert@cmri.org.au)

Ref:
(1) Single-cell brain organoid screening identifies developmental defects in autism – PMC (nih.gov)

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