About

Though "rare" is in the name, rare diseases are in fact surprisingly common. Roughly 400 million people are estimated to have a rare disease worldwide, with 80% of these having a genetic origin. Due to a variety of challenges, correctly diagnosing a rare disease takes approximately 4-8 years. Not all genetic mutations in known disease genes cause the disorder to present itself, as some mutations may be benign. Hence, when a new mutation in a rare disease gene is discovered, it can be difficult to predict whether the mutation will be harmful or not. The variant is then labeled a variant of uncertain significance, since its impact on a patient is unclear without scientific evidence to back its function.

I was first introduced to the field of rare genetic disorders as a master's student, where I conducted an independent research project on rare peroxisomal disorders in collaboration with the Shefflield Children's Hospital. The aim was to genetically modify yeast using CRISPR-Cas9 to provide functional information for patients affected by variants of uncertain significance.

I focused on Noonan syndrome for my doctoral thesis, which is a developmental disorder commonly detected during prenatal diagnostic screening. Over the course of the four year project, I investigated various protein and transcriptomic approaches to better diagnose variants of uncertain significance using primary cells taken during first trimester screening, with the aim of implementing this into a prenatal diagnostic pipeline. I remain as a postdoctoral researcher to complete a first-author submission of the results and continue optimizing methodologies.

The institute where I completed my PhD is located in the newer biotech campus of the University of Zurich. Noticing the discrepancy in university services and events compared to the main campus, I organized the first PhD networking event on the Schlieren campus since the Covid-19 pandemic, raising over 2,500 CHF in funds and attracting 60+ participants. I greatly enjoyed getting to know other students on campus and the feeling that I was making a positive impact on their behalf.

Since the start of my PhD journey, I knew that my career ambitions would use academia as a stepping stone rather than as an end destination. I have a deep interest in the realms of medical affairs, medical writing and sales within pharmaceutical companies, as these align with my passions of communicating science and helping as many patients as possible. I consider it a natural progression to transition from conducting translational research to ensuring groundbreaking medical achievements reach those in need of it. As such, I proactively seek ways to increase my understanding of these three areas, such as joining the Medical Affairs Professional Society, and taking courses on Good Clinical Practices and the CRM software Salesforce.