Strategies for dissecting the complexity of neurodevelopmental disorders

Jiawan Sun, Serena Noss, Deepro Banerjee, Maitreya Das, Santhosh Girirajan

Research output: Contribution to journalReview articlepeer-review

Abstract

Neurodevelopmental disorders (NDDs) are associated with a wide range of clinical features, affecting multiple pathways involved in brain development and function. Recent advances in high-throughput sequencing have unveiled numerous genetic variants associated with NDDs, which further contribute to disease complexity and make it challenging to infer disease causation and underlying mechanisms. Herein, we review current strategies for dissecting the complexity of NDDs using model organisms, induced pluripotent stem cells, single-cell sequencing technologies, and massively parallel reporter assays. We further highlight single-cell CRISPR-based screening techniques that allow genomic investigation of cellular transcriptomes with high efficiency, accuracy, and throughput. Overall, we provide an integrated review of experimental approaches that can be applicable for investigating a broad range of complex disorders.

Original languageEnglish (US)
Pages (from-to)187-202
Number of pages16
JournalTrends in Genetics
Volume40
Issue number2
DOIs
StatePublished - Feb 2024

All Science Journal Classification (ASJC) codes

  • Genetics

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