Cellular Phenotypes of Angelman and Dup15q Syndrome Neurons

Panel Presentation
Thursday, May 2, 2019: 11:45 AM
Room: 524 (Palais des congres de Montreal)
S. J. Chamberlain, Dept. of Genetics and Genome Sciences, University of Connecticut Health Center, Farmington, CT
Angelman and Dup15q syndromes are neurodevelopmental disorders most commonly caused by copy number variation at the chromosome 15q11-q13 locus. Cognitive function, speech/language, seizure susceptibility, and social behavior are profoundly affected in individuals with these disorders. We have developed multiple induced pluripotent stem cell (iPSC) models for each of these disorders, and have differentiated them into forebrain cortical neuron cultures. Here we will discuss the electrophysiological and molecular phenotypes identified in neuronal cultures from patient-specific iPSCs derived from individuals with these disorders, as well as the use of genome editing technologies and antisense oligonucleotide approaches to dissect the involvement of individual genes in the cellular phenotypes of Angelman and Dup15q syndromes.