Regulation of nuclear envelope function and links with disease

Human cells are highly organised and regulated, which is essential for the healthy function of tissues and organs. Recently, it has become evident that one crucial part of the cell is a structure called the nuclear envelope (NE), surrounding the cell nucleus – home to our DNA. The NE is crucial for maintaining nuclear architecture and cell function. Dysfunction of the NE leads to various human diseases, including cancer, muscular diseases, neurodegenerative syndromes and premature ageing syndromes called progeria. The fact that NE defects are associated with various human diseases and with normal ageing has triggered a strong interest in trying to correct the abnormal nuclei and associated defects in NE-associated syndromes as this will improve cell fitness and patient survival. Unfortunately, there is no effective treatment for these diseases, and the available therapies mainly act by improving the symptoms of these patients.

I plan to characterise new mechanisms that regulate NE function. This work will improve our fundamental knowledge of NE function and will suggest new ways of treating these diseases. Moreover, this work could also open up new perspectives into improving normal age-related pathologies, which would have a great impact on public health.