At Ksilink, it is one of our core missions to develop new therapeutic modalities to treat autism and particularly a rare form called Phelan McDermid Syndrome (PMDS). In line with the principle of the 3R, we developed a relevant human stem cell-derived neuronal model that recapitulates disease features with our collaborators at I-Stem (Establishment of heterozygous and homozygous SHANK3 knockout clonal pluripotent stem cells from the parental hESC line SA001 using CRISPR/Cas9 – ScienceDirect; Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models | bioRxiv).
The deficit in SHANK3 protein (haploinsufficiency) which is a master scaffolding protein found in the postsynaptic density of excitatory synapses, is recognized as one of the major causes for different forms of autism including PMDS. Our current goal is to normalize the SHANK3 protein levels to physiological levels.
If you want to know more about us and our journey to treat PMDS, please contact us: contact@ksilink.com.
