Translational Research in Rare Diseases

Research on rare diseases is faced with unique challenges and opportunities. Our research program combines basic science and clinical research to create and implement novel medical technologies and treatments. Our work is translational and patient-centered. Most of our research projects are inspired by patients and families we meet in the clinic. We take on areas where we see an unmet need and bring ideas from our clinical work to our laboratory (‘bedside to bench’). Vice versa, our basic science research program is targeted at understanding fundamental molecular disease mechanisms and at developing platforms for testing novel therapeutics, with the goal of ultimately implementing first-in-human and pivotal clinical studies (‘bench to bedside’). We aim to accelerate the time between laboratory research, development, and clinical application.


Creating Clinical Trial Readiness

How do we create the infrastructure for first-in-human and pivotal studies in rare diseases?


Discovering key disease mechanism

What are the molecular mechanisms that lead to hereditary spastic paraplegia?


Creating a platform for novel therapeutics

How can we leverage novel disease models and genomic tools to create therapeutics?


Conducting clinical trials

How do we design future trials for rare and ultra-rare diseases?

Supporting the Rare Disease Community

We believe that the work of our laboratory should not only be confined to advancing science, but that we should also strive to engage the broader community. Through a variety of outreach efforts, we believe that we can help make our scientific communities more inclusive and learn from the diverse perspectives these experiences provide.