I am a Human geneticist and cell biologist interested in the molecular bases of rare inherited diseases. Collectively, one in seventeen people will have a rare disease at some point in their lives and seventy five percent of these diseases affect children. They are usually caused by pathogenic genetic variants that disrupt a single gene or small group of genes. By finding these genes, it is possible to improve diagnoses and to inform the advice given to individuals and their families. By understanding the function of these genes, it is sometimes possible to propose therapeutic strategies. Additionally, research into rare diseases can sometimes improve our understanding of more common diseases, which tend to be caused or influenced by many genetic factors acting in parallel.
I joined the Aspden group in order to benefit from the Julie’s expertise in RNA biology and translational control and to contribute to the work of the group in the field of pervasive transcription. In particular, I am interested in pursuing the potential role of translatome-dysregulation in the pathogenesis of inherited and acquired forms of dilated cardiomyopathy.