Functional Analyses for Malformations of Cortical Development

The field of human genetic diseases has undergone a huge expansion in recent years but there still remains much to be discovered about the molecular and cellular processes that take place in the developing human brain and what goes wrong in case of diseases that affect brain structure. Cortical malformations represent a heterogeneous group of diseases, which result from mutations in multiple genes ranging between transcription factors, chromatin modifiers, as well as cytoskeletal proteins and proteins with enzymatic activity. It is crucial that we understand what goes wrong in case of these diseases at a molecular and cellular level. Furthermore, with advances in molecular diagnosis and whole exome sequencing, novel variants are discovered on a daily basis. Therefore, it is a true challenge to be able to assess which of the mutations are pathogenic.

This Research Topic will cover these topics with reviews and novel research articles covering a wide spectrum of possible functional analyses. The presented studies will range from biochemical assays, studies using different model organisms as well as human-based brain organoids.