A postdoctoral fellowship position is available immediately for a highly motivated scientist interested in characterizing the impact of gene mutations at the molecular, biochemical and cellular levels. 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. The fellow will focus on generating molecular and cellular tools to explore the impact of mutations on biological pathways for one or more rare diseases. A specific aim will be to create 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 the fellow and also made available to the external research community in an unrestricted manner. Ultimately, it is envisioned that these tools and the research studies they enable will lead to the definition of options for therapeutic intervention. The fellow will have significant input on the rare diseases that become part of the Catalyst portfolio. This is a tremendous opportunity to join an interdisciplinary collaborative team that is committed to improving the health and well-being of rare disease patients. In addition to driving at the science at the bench, the fellow will interact directly with patients and patient group or foundation representatives, thereby providing a human face to the research work. The fellow also will have access to UNC Faculty and Core Centers, many of which have specialist capabilities in therapeutic areas and analytical technologies. Ultimately, it is expected that the fellow will become recognized as a key source of knowledge and tools for their rare disease of focus and be able to initiate and drive independent research programs. The project will involve a significant amount of laboratory bench work. Experience with gene manipulation using the latest editing technologies is highly desirable. In addition, the role will require working knowledge of functional genomics and bioanalytical techniques.The position requires a Ph.D. in a biological sciences discipline (e.g., Biochemistry, Cell and Molecular Biology), and a publication record demonstrating research productivity. Excellent communication, organization, writing and data analysis skills are also essential as well as a positive outlook and team- oriented attitude.