The Annual Rare Disease Desert Symposium was held at the Icagen Tucson Innovation Center beginning February 26, 2018. Attendees from Genea Biocells were interested to learn more about Icagen, tour its drug development and screening facilities, and meet with key staff members. The conference hosted speakers focused on a wide range of rare disease-related topics and included emphases on disease modeling, drug development, clinical trial design, and patient advocacy. The symposium’s excellent scientific research imparted remarkable hope because, as Icagen’s Senior Vice President Ken Wertman remarked, “As is the case with Rare Disease Research, when we’re guided by genetic insight, the probability that what we’re doing is on target is greatly enhanced, and the potential to have an impact on people is similarly enhanced.”
In line with Genea Biocells’ focus on therapeutics development for rare muscle disorders using pluripotent stem cells, of special interest to our staff were talks related to stem cell-derived models of diseases including ALS (Rita Sattler, Barrow Neurological Institute), pediatric epilepsy (Evangelos Kiskinis, Northwestern University), frontotemporal dementia (Justin Ichida, USC), and Duchenne’s Muscular Dystrophy (Rita Perlingeiro, University of Minnesota) . Talks on the pathophysiology of and treatment strategies for muscle diseases were also especially informative for our scientists. They learned, for instance, about genetic modifiers of disease identified in muscular dystrophy-affected dogs (Lou Kunkel, Harvard), 3-D modeling of the DUX4 protein to identify drug targets for FSHD (Michael Kyba, University of Minnesota), how mutations in proteins involved in nuclear structural support cause Emery-Dreifuss MD (Sue Shackleton, University of Leicester), drugs that inhibit the production of toxic RNA in Myotonic Dystrophy mouse models (Andy Berglund, University of Florida), and many other exciting findings.
In addition to the scientific research presented at the meeting, our staff appreciated the emphasis that Icagen and attendees placed on the importance of rare disease patients’ involvement in the development of successful therapies. As Immunogen CEO Richard Gregory put it, “Patients have a fundamental role in all aspects of drug discovery.” This point was emphasized by Icagen’s donation of half of all conference registration fees to patient advocacy groups. Attendees also heard from Emily Kamer-Golinkoff’s about her inspiring experience as Co-Founder of Emily’s Entourage, a patient advocacy organization focused on finding a treatment for her and the 70,000 others suffering from Cystic Fibrosis. Overall, the conference was fascinating, informative, and focused on research like that at Genea, aimed at improving the lives of those affected by rare disease.