WDR62 is a scaffold protein localized to the spindle poles during mitosis and involved in symmetric versus asymmetric cell division choices in neural progenitors during brain development. Pathogenic mutations of WDR62 account for the second most common of genetic primary microcephaly (MCPH2). The research conducted for this Ph.D. project used patient’s iPSCs, neural stem cell derivatives, cerebral organoids, and CRISPR-Cas9 technology to investigate the molecular basis of MCPH2 – enlightening the consequences of a specific WDR62 mutation, and more broadly contributing to a wider comprehension of WDR62-related MCPH pathological mechanisms.

Teams

We are happy to invite you to the seminar of Prof. Angeliki Louvi, from the Yale School of Medicine (US), organized on July 13, 2023 at 2.30 pm, in the NEW LOCATION: Aula SRC of the Polo San Rossore. 

Prof. Louvi will present her work on “Investigating Malformations of Cortical Development in Human Stem Cell Models”.

Teams

Currently, the most promising genome editing technology is the CRISPR/Cas9 system. The method is simple, and with widespread use in experimental models, cell lines, laboratory animals, plants, and humans. Though it has been widely adopted and improved, drawbacks concerning the in vivo delivery and the off-target effect limit the use of the technology in humans for gene therapy.