Benjamin Philpot explains Angelman drug prospects
Watch the complete replay of Benjamin Philpot discussing the possibility of pharmacologically turning on a silent gene to treat Angelman syndrome. Submit follow-up questions.
Watch the complete replay of Benjamin Philpot discussing the possibility of pharmacologically turning on a silent gene to treat Angelman syndrome. Submit follow-up questions.
Thanks to a suite of new tools based on synthetic biology, it’s now possible to quickly and cheaply insert autism-linked mutations into living cells in the lab.
Methylation — modifications to DNA that regulate gene expression — may explain why identical twins with the same Rett syndrome mutation have different symptoms, according to a study published 21 June in PLoS One.
The genes involved in Rett and Angelman syndromes may collaborate to regulate the expression of other proteins, according to a study published 19 July in Biochemical and Biophysical Research Communications. This may explain the overlap in symptoms between the two disorders, the researchers say.
Emerging evidence indicates that microglia, the brain’s immune cells, are altered in some individuals with autism, raising questions about their role in brain development, says Beth Stevens.
A new online database lists the likely RNA-binding sites of more than 8,000 proteins from 289 species. Researchers debuted the resource in the 11 July issue of Nature.
The simplest form of in vitro fertilization does not increase the risk for autism or intellectual disability, but the effect of other fertility treatments is still unclear, according to two large Scandinavian studies published in July.
Researchers have debuted the most comprehensive map to date showing how the suite of methyl tags on the DNA of brain cells changes across the genome over a lifetime. The map, published 4 July in Science, suggests that shifting patterns of methylation may guide key periods of brain development.
Mutations in MeCP2, the Rett syndrome gene, prevent changes to DNA that dampen gene expression, according to two studies published 16 June in Nature and Nature Neuroscience.
The majority of people lacking a functional copy of the SHANK3 gene have both autism and severe intellectual disability, according to a study published 11 June in Molecular Autism.