Alagille Syndrome Scientific Meeting - Measuring What Matters

项目总结 第三届阿拉格尔综合征科学会议--衡量什么是重要的将于2022年6月16日至17日在 辛辛那提儿童医院医疗中心(CCHMC)和辛辛那提研究生酒店。这将是 这是该活动第二次与阿拉格尔综合征国际研讨会(ALGS)联系起来举行， 阿拉格尔综合症联盟(ALGSA)标志性的家庭会议。这次科学会议将发表一个 通过关注ALGS的多效性，满足科学、临床和工业社区的未满足需求 以及影响Notch途径活性的潜在的上下文依赖的调控机制。基因突变 在95%以上的ALGS患者中发现了Notch通路成分。因为ALGS是一个 Notch活性降低的疾病，目前拮抗Notch活性的靶点将不会使患者受益 人口。长期目标是建立一个论坛，以解决最重要的问题和 研究和发现的机会，以改善ALGS患者的预后。这一目标将会实现 通过将1)治疗ALGS患者的临床医生、2)专注于机械方面的研究人员聚集在一起 Notch信号，3)专注于器官发育和发病机制方面的研究人员 ALGS患者中发现缺陷的组织和器官，4)工业合作伙伴对罕见的 疾病空间，以及5)ALG患者、患者家属和患者倡导者。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。具体目标是 这次跨学科但以综合征为重点的会议将把120名临床医生组成的不同社区聚集在一起 科学家们致力于ALGS患者的护理，并发现了新的、更安全和 在与ALGS相关的疾病、发育和再生中更有效地操纵Notch信号。 13位受邀演讲者和6位高级主持人代表了具有广博知识和尖端技术的世界领导人。 在各自领域的发现。这次会议将为每个人提供教育，并激发 培养年轻的调查人员。值得注意的是，为正式和非正式留出的环境和时间 讨论将产生一个论坛，在这个论坛上，尖端技术、想法和发现可以自由交流 交流，激发新的想法和合作。最重要的是，这个论坛将提供机会 供科学家、ALGS患者及其家属互动学习。

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.