Fredrik Sterky Group

Molecular basis of synapse formation and monogenic diseases

Neurons in the brain communicate through synapses—specialized connections that transmit signals between cells. Most synapses are formed during early development, but a certain degree of synaptic turnover continues throughout life and is thought to contribute to learning and memory. Conversely, excessive synapse loss has been implicated in disorders such as schizophrenia. Cell adhesion proteins on the neuronal surface, which create a form of molecular handshake between neurons, are believed to play a central role in synapse formation and long-term stability.

Gain mechanistic insight into synapse biology

We investigate how synaptic adhesion proteins and their interaction partners contribute to the molecular assembly and stabilization of synapses. To address these questions, we develop and use genetic model systems in human neurons, cell lines, and mice, enabling us to dissect specific molecular functions and gain mechanistic insight into synapse biology. Our long-term goal is to identify strategies to stabilize vulnerable synapses and restore synaptic imbalances that contribute to human disease.

Studying  genetic disorders

Using similar approaches, we also study the molecular mechanisms underlying selected genetic disorders identified through clinical genomic diagnostics at Sahlgrenska University Hospital. Monogenic disorders—caused by pathogenic variants in a single gene—are often referred to as rare genetic diseases but are collectively not uncommon as thousand distinct conditions have been described. Through translational studies of patient-derived cells and genetically engineered cellular models, we investigate disease mechanisms and explore strategies to correct the underlying molecular defects.