Objective

The UNC Catalyst for Rare Diseases (‘the Catalyst’) in the School of Pharmacy at UNC is a research group funded by the Eshelman Institute for Innovation and committed to seeking greater scientific understanding of rare diseases caused by genetic mutations. Through partnerships with the Structural Genomics Consortium and Genetic Alliance, the UNC Catalyst is a unique and critical resource for patient organizations that lack ‘wet lab’ capabilities to pursue rare disease research objectives. Recent advances in molecular biology have made it possible to evaluate the biological impact of specific gene mutations through the use of targeted gene editing methodologies. The ability to explore the underlying pathology linked with specific rare disease gene mutations is dependent on the availability of the appropriate research tools. Scientists in the Catalyst generate molecular and cellular tools to explore the impact of mutations on biological pathways for one or more rare diseases. A specific example is the creation of isogenic cell lines that harbor either a normal or mutated version of a target protein in order to enable a more comprehensive analysis of target function. These biological reagents will be used by Catalyst scientists and also made available to the external research community in an unrestricted manner. In addition to driving at the science at the bench, our postdoctoral fellows interact directly with patients and patient group or foundation representatives, thereby providing a ‘human face’ to the research work. Catalyst staff partner with UNC Faculty and access UNC Core Centers, many of which have specialist capabilities in therapeutic areas and analytical technologies. Catalyst fellows are recognized as a key source of knowledge and tools for their rare disease of focus and are expected to initiate and drive independent research programs.