Justin West

WORK HISTORY

EDUCATION

ABOUT JUSTIN WEST

I am a full-time plastic surgeon and father of a 5 year old son named Andrew who was diagnosed with kcnt1 related epilepsy when he was four months old. Since that time my focus has been on collaborating with clinicians, researchers and drug developers around the world working on curing this rare disease. Foundation initiatives: Patient registry: Principal investigator, patient recruitment (50% of worldwide cases enrolled), survey tool development Industry Natural History Study: design input (helped initiate first fully remote NHS for one team), patient recruitment, patient education Ciitizen/Invitae digital natural history study: patient education and recruitment. Science Advisory Board: Recruited basic science, clinical and pharma collaborators from around the world. Organize and develop agenda for meetings - identifying gaps in knowledge, opportunities to improve patient outcomes in the short-term with existing therapeutics, and strategies to develop targeted treatments for the long term. Consensus clinical recommendations: Initiated program with core group of experienced epileptologists from around the world to create guidelines for treatment based on best available evidence. Therapeutic Programs: Repurposing trial: Initiated screening efforts with an academic collaborator of the FDA approved drug library to identify SLACK channel inhibitors. Candidate drug identified. Formed clinical advisory team to develop trial protocol and provided physician/parent perspective. Identified treatment centers for multiphase clinical rollout. Small molecule programs: Initiated collaborations between pharma and academic collaborators for preclinical safety and efficacy validation studies. Antisense oligonucleotide (ASO) programs: material support of programs via patient iPSCs. Arrange patient listening sessions for pharma collaborators. Feedback on preclinical testing and trial design to facilitate patient compliance. Programs to ensure clinical trail readiness for the kcnt1 community. Gene editing: Initiated two early-stage programs at academic centers with a goal of developing a targeted therapy with the potential for one-time dosing. Basic Science Programs: Funding: Manage a grant review committee to identify programs to support for kcnt1 research. Material support: supporting multiple programs around the world with patient specimens for fibroblast and iPSC generation to facilitate preclinical investigations. Biobank: Initiated a biobank to generate assets for use by existing and future academic and pharma collaborators.