Modelling Epigenetic Dysregulation in Rubinstein-Taybi Syndrome

2017-08-15T00:26:52Z (GMT) by CARMELA MARIA DE BOER
Rubinstein-Taybi Syndrome (RTS) is a rare congenital disease, caused by mutations in at least in two known proteins that play important roles in cellular processes. However, with Next Generation Sequencing I tried to identify additional genes involved in the onset of RTS. I generated and differentiated disease specific neuronal cells from skin cells of these patients, and performed a drug screen to find potential therapeutics to reduce symptoms seen in cases with developmental disorders.