Research Focus
A vast majority of orphan diseases are of genetic origin. Recent technological advances now permit the routine identification of causative mutations in genetic disease and offer the potential to repair genetic defects in a therapeutic context. The group focuses on the initial identification of novel genes and mutations in familial autosomal recessive and dominant orphan disease in Austria.
Main Objectives
Candidate disease-causing alterations will be used to develop novel, tailored, pre-clinical, genome editing based autologous cellular therapy transplantation strategies.
Content of Research
We utilize next generation sequencing, bioinformatics platforms, autologous precursor cell culture systems and both adenoviral and nonviral gene transfer technologies.