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Jill Jarecki has been with Cure SMA since 2005. In this capacity, she has managed a broad portfolio of SMA research investments totally over $55 million in basic research, preclinical drug development, and clinical research and trials. While at Cure SMA, she advanced a drug development project through a pre-investigational new drug meeting at the FDA, designation of orphan disease status from the Orphan Products Office of the FDA, and finally through successful out-licensing of the program for clinical development to an industry partner – all of which were firsts for the SMA field. More recently, she has been engaged in patient focused drug development activities, including the formation of a seven-member industry collaboration of biotech / pharmaceutical partners within Cure SMA to jointly advance SMA clinical development. Dr. Jarecki received her PhD in genetics from Yale University and completed her postdoctoral fellowship at Stanford University. Prior to working at Cure SMA, she spent 5 years working in the biotech industry at both Vertex Pharmaceuticals and Invitrogen Corporation.
The healthy individual participant is at the center of population sequencing studies. Spinal muscular atrophy (SMA) is a severe pediatric neuromuscular disorder due to a defect in the Survival Motor Neuron 1 (SMN1) gene that presents with a diverse range of phenotypes of motor impairment and related comorbidities – effecting approximately 1 in 10,000 live births. Research has focused on strategies that restore sufficient levels of needed full-length SMN protein. This resulted in FDA approval of Spinraza, which is using antisense oligonucleotides to cause more full-length SMN production from SMN2 genes, and the new gene therapy Zolgensma, that is based on transferring SMN1 genes into the body. The session will review the two different approaches and the challenges to bring them to the clinic.