Lindy E. Barrett

Keywords variability transcription gene expression trisomy 21 autosomal aneuploidy autism CHD8 NPCs neural development Introduction Questions around inter- and intra-individual variation in development, aging, and disease are of high basic and clinical relevance. Trisomy 21 (T21) is the most common genetic cause of intellectual disability, affecting around 6 million individuals globally.

While there are a growing number of human pluripotent stem cell repositories, genetic diversity remains limited in most collections and studies. Here, we discuss the importance of incorporating diverse ancestries in these models to improve equity and accelerate biological discovery. Genetic diversity in genome research and stem cell repositories Over the past twenty years, the field of human genetics has advanced tremendously (Fig.

Abstract It is unclear how the 22q11.2 deletion predisposes to psychiatric disease. To study this, we generated induced pluripotent stem cells from deletion carriers and controls and utilized CRISPR/Cas9 to introduce the heterozygous deletion into a control cell line. Here, we show that upon differentiation into neural progenitor cells, the deletion acted in trans to alter the abundance of transcripts associated with risk for neurodevelopmental disorders including autism.