Synapses are the fundamental signal processing units of our brains and imbalanced synaptic functions underlie major brain disorders including autism and schizophrenia. A substantial fraction of synapses undergoes continuous formation and removal, but the underlying cell-biology is not well understood. We are investigating this question using genetically modified human neurons, protein biochemistry and mouse models.

Example publications:
Marco de la Cruz, Campos et al., Nat Neurosci. 2024 27(4):629-642. doi:10.1038/s41593-024-01592-9

 Montoliu-Gaya et al., EMBO Rep. 2021 Apr 7;22(4):e51349. doi:10.15252/embr.202051349

Mendelian disorders that arise from genetic variants in a single gene are commonly referred to as 'rare genetic disease' but are collectively not uncommon as there are thousands of conditions described. We use patient-derived or gene-engineered cellular models to study cases of such diseases in a translational manner.

Example publications:
Sofou, Meier, Sanderson, Kaminski et al., EMBO Mol Metab. 2021 13(5):e13376. doi:10.15252/emmm.202013376

Jennions et al., J Inherit Metab Dis. 2019 42(5):898-908. doi:10.1002/jimd.12149JIMD.