Development of Targeted Therapies for Peroxisome Biogenesis Disorders: Current and future prospects

过氧酶体生物发生障碍靶向治疗的开发：当前和未来展望会议将为多学科研究人员提供一个论坛，讨论过氧酶体生物发生障碍(PBD)新出现的治疗机会。我们的首要目标是在这次会议的讨论基础上制定PBD治疗发展的路线图。PBDS是一种影响多器官系统功能的疾病谱，对中枢神经系统的影响最深，并导致寿命缩短。除了疾病的神经方面，患者最典型的表现是进行性视力和听力丧失，以及呼吸、肝脏、肾脏和骨骼的异常。这次会议产生的治疗路线图将被临床同事和相关疾病基金会、全球过敏性疾病基金会(GFPD)和国际根治病基金会用于规划未来的转化性研究倡议。听众将由具有互补专业领域的个人组成的多样化社区组成，包括治疗PBD患者的内科科学家、翻译研究人员、基础科学家和患者权益倡导者，他们都对包括PBD在内的罕见疾病的治疗倡议感兴趣。将特别强调初级研究人员和受训人员的参与，期望他们将提供新的想法和观点，并从与会议上以社区为基础的治疗规划工作的互动中受益。来自神经科学和普通医学领域代表性不足的社区的参与者将提供重要的观点，并参与关于患者招募和获得新开发的治疗方法的关键讨论。参加这次会议的不同科学界和患者倡导者将允许与转译研究相关的想法的交流，这可能是在更多的一般会议上无法实现的，例如美国基因和细胞治疗学会(ASGCT)和美国人类遗传学学会(ASHG)的会议。

The Development of Targeted Therapies for Peroxisome Biogenesis Disorders: Current and future prospects conference will provide a forum for multidisciplinary investigators to discuss emerging therapeutic opportunities for peroxisome biogenesis disorders (PBDs). Our overarching goal is to develop a roadmap for PBD therapeutic development based on the discussions that originate from and extend beyond this conference. PBDs are a disease spectrum that impacts the functions of multiple organ systems, with the most profound effects on the central nervous system, and leads to a shortened life span. In addition to the neurological aspects of disease, patients most typically manifest a progressive loss of vision and hearing as well as respiratory, hepatic, renal, and skeletal abnormalities. The therapeutic roadmap generated as a result of this conference will be used by clinically-oriented colleagues and relevant disease foundations, the Global Foundation for Peroxisomal Disorders (GFPD) and RhizoKids International, to plan for future translational research initiatives. The audience will be comprised of a diverse community of individuals with complementary areas of expertise including physician-scientists who treat patients with PBDs, translational researchers, basic scientists, and patient advocates, all of whom share an interest in therapeutic initiatives for rare diseases, including PBDs. Special emphasis will be placed on the participation of junior investigators and trainees, with the expectation that they will provide novel ideas and perspectives and also benefit from interacting with the community-based therapeutic planning efforts at the conference. Participants from underrepresented communities in the neurosciences and general medical sciences will provide important perspectives and be involved in critical discussions about patient recruitment and access to newly developed treatments. The diverse scientific community and patient advocates participating at this conference will allow for a cross-fertilization of ideas relevant to translational research that may not be achievable in more general meetings, such as those of the American Society of Gene and Cell Therapy (ASGCT) and the American Society of Human Genetics (ASHG).