Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis and treatment.
Awardee: Vanessa Fear
Institution: Telethon Kids Institute, University of Western Australia
Grant Amount: $45,733
Funding Period: February 1, 2022 - January 31, 2023
Summary:
SETBP1 haploinsufficiency disorder presents with intellectual disability, speech impairment and development delay, among other symptoms. There is little information regarding SETBP1 haploinsufficiency disorder and the cellular pathways that lead to disease. This study will use CRISPR gene editing and stem cell neural disease modelling to elucidate cellular pathways that contribute to SETBP1 haploinsufficiency disorder, and identify new treatments.