The biopsy donors include patients suffering from ASD (NRXN1+/-), Epilepsy (KCNA2 and KCNQ2 mutations), sporadic ALS, Retinitis Pigmentosa (RPE65 mutation) and LQTS with LQT1/2/3 mutations. Isogenic lines have also been generated using genome editing, and the current research has shifted from iPSC derivation/ characterisation to phenotypic characterisation. In conjunction with the establishment of Confucius Institute of Chinese and Regenerative Medicine, they are initiating a drug screening program using human iPSCs.
Previously, Professor Shen has generated knockout and transgenic mice using artificial chromosomes to model human diseases. Key discoveries include discovery of VPAC2 as a master switch of the circadian clock, association of Disc1tr with schizophrenic phenotype in mice, and association of ULK4 and PAC1 with hydrocephalus, ciliary development and neural stem cells.
Please see here for research publications. Furthermore, for details on our current research endeavours please see our research group page here.