Tying PPFIA3 to autism: A quick take at SfN with Tuan Chao and Maimuna Paul
Work in fruit flies has helped Paul decode a neurodevelopmental syndrome in children caused by rare de novo variants in the gene PPFIA3.
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Work in fruit flies has helped Paul decode a neurodevelopmental syndrome in children caused by rare de novo variants in the gene PPFIA3.
People with dup15q syndrome and those with idiopathic autism have similar patterns of altered gene expression in early brain development and later in life.
Rhythmic variations in the genes’ brain expression levels may help explain the sleep problems that often accompany the condition.
Data from two separate research teams suggest the cells are key to sensory hypersensitivity in fragile X syndrome.
The study also reveals a link between language development and common variants.
The gene, YTHDF2, has not previously been linked to autism.
The findings, based on Swedish national registry data, suggest a critical need to expand mental health services for autistic people.
The technique could be used to identify and control cells involved in autism.
The developmental models have advantages over natural embryos and other synthetic models, such as organoids, but present technical and ethical challenges.
Collecting brain scans from thousands of people can be challenging in autism research; data-sharing and collaborative efforts can help drive results that stand up to statistical scrutiny.