Researchers home in on dosage effects of 15q11-13 region
Researchers are beginning to tease apart how dosage of genes within the 15q11-13 chromosomal region contributes to autism symptoms.
Researchers are beginning to tease apart how dosage of genes within the 15q11-13 chromosomal region contributes to autism symptoms.
The autism-associated gene RBFOX1 modifies the sequence of hundreds of genetic messages, a number of which affect the expression of other autism-linked genes, according to a study published 7 July in Human Molecular Genetics.
Motor neurons derived from individuals with Phelan-McDermid syndrome, a rare autism-related disorder, form abnormal connections with muscle cells. The unpublished research was presented 26 July at a meeting of the Phelan-McDermid Syndrome Foundation in Orlando.
Understanding the function of neuronal circuits, specifically microcircuits in the prefrontal cortex and elsewhere in the brain, will play a major role in translating research findings into new autism treatments, says Vikaas Sohal.
Luca Santarelli, head of neuroscience at Roche, explains why he is optimistic that pharmaceutical companies can overcome the obstacles in autism drug development.
Knocking out an autism-linked gene called PTEN only in neural stem cells of the hippocampus, a brain region central to learning and memory, throws the development of new neurons off course in adult mice, according to research published last month in the Journal of Neuroscience.
A $38.7 million project in the European Union — the largest single grant for autism research in the world — aims to bring together academic labs and pharmaceutical companies to speed the move from basic to clinical research.
By creating genetically engineered fish, two independent groups have identified genes in an autism hotspot on chromosome 16 that influence head size and brain development.
A pilot project highlights how adult stem cells could be used to test and select personalized therapies.
As the use of induced pluripotent stem cells grows, researchers are searching for ways to make them behave more predictably.