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The UNC Catalyst for Rare Diseases seeks scientific understanding of proteins that, when mutated, cause genetic disease.

With seed funding from the Eshelman Institute for Innovation at UNC, and in partnership with stakeholders (foundations, individuals, families) interested in the disease, the UNC Catalyst will create high quality research tools for disease-related proteins, and share these catalytic reagents upon discovery with the entire research community immediately and without restriction. Importantly, the Catalyst addresses a key need for support since funding to procure these critical biological tools is difficult to attract from traditional granting mechanisms.

The generation of these tools by the Catalyst serves the purpose of enabling the exploration of disease pathobiology with the overall aims of accelerating the pace of discovery in the disease area and helping to define options for therapeutic intervention. The Catalyst will partner with the Genetic Alliance, the Structural Genomics Consortium and UNC Faculty to assemble the appropriate ‘toolbox’ for the disease.

The UNC Catalyst will also apply these tools to the most important scientific problems by recruiting, together with the disease advocates, post-doctoral scientists who will dedicate his/her training to the disease and will commit to being an “on call” scientist-communicator for the disease group. The post-doctoral scientist will provide regular summary updates (in layperson terms) on the science to families and supporters of the UNC Catalyst. They will potentially become an integral part of the disease “family”, and will continue in this role as they launch their independent career.

The ultimate objective is to gain greater understanding of the functional impact of the disorder and uncover new treatment approaches, which can be executed either within the UNC Catalyst or through the wider scientific community.