Patients

The Interventional Precision Genomics Lab works on identifying which emerging genetic therapies can be suitable for specific genetic variants. We develop frameworks, tools, and guidelines that help match the right therapeutic approach to individual cases and aim to integrate this process into the diagnostic workflow.

In parallel, we work on expanding the current possibilities of genetic therapies by developing new strategies and approaches that may help close the gaps for patients whose genetic variants are not yet considered treatable with existing technologies.

In collaboration with organisations such as the N=1 Collaborative and RareChromo, we are developing guidance and resources for patients and patient organisations to help navigate questions around emerging genetic therapies and therapeutic eligibility.

Patients and families who are interested in connecting with the global community working on individualised genetic therapies are encouraged to visit Connections a platform created by the N=1 Collaborative that helps link patients, clinicians, researchers, and advocacy groups. The platform is moderated by experts within the rare disease field happy to answer your questions.