Studies in the Pilon’s lab are focused on neurocristopathies, a group of rare genetic diseases in which problems with neural crest cells play a central role. This particular stem cell population generates many different cell types including, among others: peripheral neurons and glia, melanocytes, craniofacial osteoblasts and chondrocytes as well as some specialized cell types of the heart and the inner ear. Because of this large number of derivatives, distinct structures/cell types (isolated or in combination) are affected in each neurocristopathy.
Interestingly, many neurocristopathies also exhibit sex-related issues as seen in Hirschsprung disease (male sex bias in disease incidence) and CHARGE syndrome (subfertility and male-to-female sex reversal). Using mouse models and tissues from human patients, our goal is to decipher the pathogenic mechanisms underlying these diseases with a special focus on their respective sex-related issues.
In the course of our work on neural crest cells, we also developed an interest for polycystic ovary syndrome (PCOS). This interest comes from the incidental generation of a new mouse model via insertional mutagenesis of a previously uncharacterized gene that we are now characterizing in detail.
