Mutations in the gene CSDE1 lead to a constellation of developmental delays and conditions, including autism, according to a new study.
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Some traits of fragile X syndrome may be due to problems with mitochondria, the cell’s energy factories.
Rats missing UBE3A, the gene mutated in people with Angelman syndrome, squeak frequently but tend not to be responsive to the play and squeaks of other rats.
Researchers have developed a method for sequencing the genome of an intact single cell, revealing its spatial arrangement within the nucleus.
Turning down the expression of a gene linked to autism leaves zebra finches singing disorganized songs.
Researchers have used the gene-editing tool CRISPR to disable the MECP2 gene in marmoset embryos. The six such marmosets created seem to recapitulate aspects of Rett syndrome.
Researchers have used a new gene-editing technique to delete a segment of DNA associated with autism and schizophrenia from mouse brain cells.
Researchers have monitored the active genome in brain organoids over the course of nearly two years — and may find clues to autism’s roots.
Advances in research and help from families have brought scientists to the brink of an effective therapy for Angelman syndrome.