Alagille Syndrome Scientific Meeting - Measuring What Matters

项目摘要 第三届Alagille综合征科学会议-测量什么重要将于2022年6月16日至17日在 辛辛那提儿童医院医疗中心（CCHMC）和辛辛那提的研究生酒店。这将是 这是第二次与Alagille综合征国际研讨会（ALGS）一起举办这一活动， Alagille Syndrome Alliance（ALGSA）的签名家庭会议。这次科学会议将讨论一个 通过关注ALGS的多效性，满足科学、临床和工业界的未满足需求 以及影响Notch途径活性的潜在环境依赖性调节机制。突变 在大于95%的ALGS患者中鉴定出Notch途径组分。因为ALGS是一个 在一种Notch活性降低的疾病中，目前拮抗Notch活性的靶点将不会使该患者受益 人口长期目标是建立一个论坛，解决最重要的问题， 研究和发现的机会，以改善ALGS患者的结果。目标一定会实现 通过汇集1）治疗ALGS患者的临床医生，2）专注于机制方面的研究人员， Notch信号传导，3）专注于器官发育和发病机制方面的研究人员 在ALGS患者中发现的组织和器官缺陷，4）工业合作伙伴对罕见的 疾病空间，和5）ALGS患者，家庭和患者倡导者。我们的目标是传播切割 为患者、倡导者、临床医生、科学家和行业代表提供边缘信息。具体目标为 这次跨学科的综合征会议将汇集120名临床医生组成的多元化社区 以及从事ALGS患者护理和发现新的，更安全， 更有效的方法来操纵Notch信号在疾病，发育和再生相关ALGS。 13位特邀演讲者和6位资深主持人代表了具有丰富知识和前沿知识的世界领导人 在各自领域的发现。这次会议将为每个人提供教育， 培养年轻的研究人员。值得注意的是，为正式和非正式会议留出的环境和时间 讨论将产生一个论坛，前沿技术，想法和发现可以自由地 交流，激发新的想法和合作。最重要的是，这次论坛将提供机会， 让科学家、ALGS患者及其家人相互交流和学习。

PROJECT SUMMARY The third Alagille Syndrome Scientific Meeting – Measuring What Matters will be held June 16-17, 2022 at Cincinnati Children’s Hospital Medical Center (CCHMC) and the Graduate Hotel in Cincinnati. This will be the second time that this event is held in connection with the International Symposium on Alagille Syndrome (ALGS), the Alagille Syndrome Alliance’s (ALGSA’s) signature family conference. This scientific meeting will address an unmet need in the scientific, clinical, and industry communities by focusing on the pleiotropic nature of ALGS and the potential context dependent regulatory mechanisms influencing Notch pathway activity. Mutations in Notch pathway components are identified in greater than 95% of the patients with ALGS. Because ALGS is a disease of reduced Notch activity, the current targets to antagonize Notch activity will not benefit this patient population. The long-term goal is establishment of a forum to address the most important problems and opportunities for research and discovery to improve the outcome of patients with ALGS. The goal will be realized by bringing together 1) clinicians that treat patients with ALGS, 2) investigators that focus on mechanistic aspects of Notch signaling, 3) investigators that focus on mechanistic aspects of organ development and pathogenesis of tissues and organs with defects identified in patients with ALGS, 4) industrial partners interested in the rare disease space, and 5) patients with ALGS, families, and patient advocates. Our goal is to disseminate cutting edge information to patients, advocates, clinicians, scientists and industry representative. The Specific Aims for this interdisciplinary yet syndrome-focused meeting is to bring together a diverse community of 120 clinicians and scientists engaged in the care of patients with ALGS and discovery of possible avenues to new, safer and more effective way to manipulate Notch signaling in disease, development and regeneration related to ALGS. The 13 invited speakers and 6 senior moderators represent world leaders with vast knowledge and cutting-edge discoveries in their respective fields. This conference will provide education to everyone and stimulate development of young investigators. Significantly, the environment and time set aside for formal and informal discussion will generate a forum in which cutting edge technologies, ideas and discoveries can be freely exchanged, stimulating new ideas and collaborations. Most importantly, this forum will provide the opportunity for scientists, patients with ALGS and their families to interact and learn from each other.