Ricardo Dolmetsch is making neurons from induced pluripotent stem cells derived from people with Timothy syndrome, a rare single-gene disorder that causes heart arrhythmias and autism. On Wednesday morning at the Society for Neuroscience annual meeting in San Diego, Dolmetsch talked to SFARI about how this approach could help autism research.
Spectrum: Autism Research News
Tag: Timothy syndrome
Mice bearing the genetic defect that causes Timothy syndrome show many autism-like behaviors, and may also have enhanced cognitive abilities like those seen in a small number of people with autism, suggests a poster presented Sunday at the Society for Neuroscience annual meeting in San Diego.
Stem cell studies show that a mutation in the neuroligin-4 gene disrupts the normal development of synapses, the junction between neurons, according to unpublished data shown Sunday at the Society for Neuroscience annual meeting in San Diego.
A common variant of a gene called CACNA1G — which makes a channel that helps regulate calcium flow between cells — may increase the risk of developing autism, according to research published in Molecular Psychiatry.