Optimizing antisense oligonucleotide therapy for SBMA with FDA-approved delivery enhancers
Summary Description
SBMA is a rare inherited disorder caused by a toxic form of the androgen receptor (AR) protein, leading to progressive muscle weakness and nerve dysfunction. This project aims to develop a targeted antisense oligonucleotide (ASO) therapy that reduces the production of the harmful AR protein and to enhance its delivery using FDA-approved Oligonucleotide Activity Enhancers. We will assess the safety, tissue delivery, and therapeutic efficacy of this combined approach in healthy mice and in a mouse model of SBMA. Our goal is to create a safe, disease-modifying treatment that addresses the root cause of SBMA and potentially advances therapies for other neuromuscular disorders.
Bio
Dr. Rika Maruyama is a research scientist in molecular genetics specializing in the development of ASO therapies for rare neuromuscular and musculoskeletal diseases, with recent work strongly focused on SBMA. After completing her Ph.D. at the University of Tokyo, she conducted postdoctoral research at Rutgers University and Johns Hopkins University before joining the University of Alberta, where she has been a Research Associate in the Department of Medical Genetics since 2011. In this role, Dr. Maruyama has led and contributed to multiple therapeutic development projects targeting SBMA, as well as other disorders including spinal muscular atrophy, Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, and fibrodysplasia ossificans progressiva, resulting in high-impact publications, patents, and book chapters. Her work has demonstrated effective knockdown of disease-causing genes in vitro and in vivo, advancing the development of novel therapies for patients with rare genetic diseases.
