Modelling Epigenetic Dysregulation in Rubinstein-Taybi Syndrome
CARMELA MARIA DE BOER
10.4225/03/59923fce316a0
https://bridges.monash.edu/articles/thesis/Modelling_Epigenetic_Dysregulation_in_Rubinstein-Taybi_Syndrome/5306710
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.
2017-08-15 00:26:52
Genetics
iPSCs
Regenerative Medicine (incl. Stem Cells and Tissue Engineering)
Genetics