Affecting 1 in 10 Americans, rare disease collectively affects approximately 30 million individuals, including 20 million children. However, rare disease faces a number of hurdles in therapeutic development, including lack of funding, lack of appropriate animal models, limited access to patients, and extensive clinical trial approval processes. Here, we discuss frameworks, challenges, and successes in studying rare disease. We present novel porcine animal models of CLN2 and CLN3 Batten disease, ataxia telangiectasia, and neurofibromatosis type 1, detailing design aspects, phenotyping challenges, and advantages in their clinical translation abilities. Additionally, we outline an accelerated program for initiating clinical trials for rare disease, focusing on gene therapy and repurposed pharmaceuticals in mouse models of Batten disease. By implementing these frameworks, strategies, and tools, successful therapies can be brought to a wide spectrum of the rare disease community in a fraction of the time.
Location: B112, CVM, NC State University
Time: October 22, 2018/ 4:00PM – 5:00PM