Steven Kushner was granted 150k Euro from the MRace subcommittee Erasmus MC Grants Posted by Admin on March 2015
Elucidating strategies for UBE3A reactivation in Angelman Syndrome using human IPScS.
Steven Kushner was granted 150k Euro from the MRace subcommittee Erasmus MC Grants for the project “Elucidating strategies for UBE3A reactivation in Angelman Syndrome using human IPScS”. The project will be performed in collaboration with the department of Neuroscience (Ype Elgersma).
Angelman Syndrome (AS) is a severe neurodevelopmental disorder resulting from mutations that impair expression of the maternal UBE3A allele. The overwhelming majority of our knowledge regarding the neurobiology of Angelman Syndrome (AS) has been derived from human molecular genetics and mechanistic studies using the AS mouse model. Therefore, human AS patient-derived neurons provide a unique opportunity to both validate previous findings from the mouse model, and establish a novel cellular platform for identifying therapeutically-relevant targets. Our experiments will focus on electrophysiological measurements of AS neurons, UBE3A target validation and identification, and strategies for re-activation of the paternally imprinted UBE3A allele.