Global Research Partnerships Scheme

The objective is to begin with the patient and, by identifying potential rare and probably damaging gene variants that cause disease, create cell and animal models to prove causation and understand the pathways responsible through functional analysis. These models can test existing / new drug strategies and uncover biomarkers so larger cohorts can be screened and stratified into pathways without the need to sequence all patients. The outcomes will be improved diagnosis, specific treatments, and enhanced ability for patients to manage their own health.