Autism spectrum disorder (ASD) is a complex disorder that, until now, could not be readily studied in the lab. A recent study led by Mustafa Sahin, HSCI Affiliate Faculty member, describes a
new way to model and investigate ASD
What they did
: Using stem cells from patients with tuberous sclerosis complex, a disease associated with ASD, the researchers developed a method to make the specific type of neuron thought to be affected in ASD.
What they found
: HSCI researchers found that these patient-derived Purkinje neurons had structural defects, and one overactive biological pathway. When they treated the cells with rapamycin -- an approved drug that inhibits the pathway -- the researchers observed that cell function improved.
Why it matters
: Looking ahead, these Purkinje neurons will be a good model for studying ASD further and testing potential drugs.