The research group headed by Professor Guerrini has over 30 years of experience in the clinical and genetic characterization of patients with malformations of cortical development including LIS1/PAFAH1B1-related disorders. The group is part of international networks that study brain malformations including the Neuro-MIG COST Action Project, an expert network of clinicians, neurogeneticists, pathologists, molecular-cell biologists, and neuroscientists working on all aspects of malformations of cortical development.
Regarding the LIS1/PAFAH1B1 gene, the research aims of the group are the following:
- To better delineate the phenotypes associated with LIS1/PAFAH1B1 mutations, with a special focus on clinical and neuroimaging features.
- To characterize the types of disease-causing LIS1/PAFAH1B1 mutations, tissue distribution and levels of mosaicism.
- To understand the functional consequences of LIS1/PAFAH1B1 gene mutations.