The Dominantly Inherited Alzheimer Disease Family Conference

项目摘要 阿尔茨海默病（Alzheimer's disease，AD）是21世纪最大的公共卫生问题之一 世纪。显性遗传性AD（DIAD）是由特定的基因突变引起的， 30、40和50岁的人。虽然这一人群占所有AD病例的不到1%，但DIAD非常有价值 来增进我们对疾病的了解因为DIAD突变携带者肯定会发展成 如果痴呆症的发病年龄可以预测，研究人员可以识别早期症状并测试预防性治疗， 可以帮助全球4400万受AD影响的人。然而，大规模的观察性研究和 在这一人群中的临床试验仅在过去十年中出现，并且研究是密集的，需要 参与者的巨大承诺。一个专门的机制，教育研究人员，参与者， 制药公司和监管机构对DIAD研究的需求目前尚未得到满足。 2015年，华盛顿大学和阿尔茨海默病协会组织了第一个国际DIAD家庭 会议汇集了领先的研究人员，监管机构，制药代表和 与DIAD的家庭总结该领域的现状，并确定实现我们目标的最佳途径， 预防AD（1-3; 2015年重点视频）。由于取得了相当大的成功，有人呼吁将这一工作作为一项经常性的工作， 第二届DIAD家庭会议定于2016年7月23日在加拿大多伦多举行。 为了支持这一创新的科学平台，目前的提案要求提供四年的资金， 再加上老年痴呆症协会承诺的支持。会议目标包括提供一个论坛 就研究、试验设计、药物开发和AD提出的其他主题进行互动对话 研究人员、DIAD家族、监管机构、制药代表和非营利组织; 联合DIAD科学家，总结DIAD研究现状;向家庭提供信息和支持 患有DIAD并有发展DIAD的风险。为了实现这些具体目标，我们设计了一整天 会议侧重于科学内容、实用信息、支持会议和建立联系的机会。 一个海报会议，两个休息，午餐和招待会提供了个人互动的机会， 与会者、科学家和发言人。通过这些会议，科学家们将相互学习， 家庭将获得有价值的信息和支持，监管机构和制药公司将有机会 从病人身上学习，保留和参与研究可能会增加。考虑到你的经验 和专业知识的共同组织者，规划委员会和发言人，过去的会议成功，配对与 主要的广告会议AAIC，和新颖的编程，我们希望这个经常性的事件，以振兴广告 社区，并为这些家庭和整个AD研究提供独特而宝贵的机会。

PROJECT SUMMARY Alzheimer's disease (AD) is increasingly recognized as one of the greatest public health concerns of the 21st century. Dominantly inherited AD (DIAD) is caused by specific genetic mutations with symptom onset in the 30s, 40s and 50s. Though this population represents less than 1% of all AD cases, DIAD is extremely valuable for advancing our understanding of the disease. Because DIAD mutation carriers are certain to develop dementia with a predictable age of onset, researchers can identify early signs and test preventative therapies that could help the 44 million people affected by AD globally. However, large scale observational studies and clinical trials in this population have only emerged in the last decade, and the studies are intensive, requiring an enormous commitment from participants. A dedicated mechanism to educate researchers, participants, pharma companies and regulators on DIAD research is currently an unmet need. In 2015, Washington University and the Alzheimer's Association organized the first international DIAD Family Conference to bring together leading researchers, regulatory agencies, pharmaceutical representatives and families with DIAD to summarize the state of the field and identify the best way forward in our goal of preventing AD (1-3; 2015 highlights video). The considerable success led to a call for this to be a recurrent event with the second DIAD Family Conference scheduled for July 23, 2016, in Toronto, Canada. To support this innovative scientific platform, the current proposal requests four years of funding which will be combined with pledged support from the Alzheimer's Association. Conference goals include offering a forum for interactive dialogue about research, trial design, drug development and other topics raised by AD researchers, DIAD families, regulatory agencies, pharmaceutical representatives and nonprofit organizations; uniting DIAD scientists and summarizing the state of research on DIAD; and informing and supporting families with and at risk of developing DIAD. To accomplish these specific aims, we have designed a full day conference focused on scientific content, practical information, support sessions and networking opportunities. A poster session, two breaks, lunch and reception offer opportunities for individual interactions among participants, scientists and presenters. As a result of these meetings, scientists will learn from each other, families will gain valuable information and support, regulators and pharma companies will have an opportunity to learn from patients, and retention and participation in research is likely to increase. Given the experience and expertise of the co-organizers, planning committee and speakers, past meeting success, pairing with the major AD conference AAIC, and the novel programming, we expect this recurring event to energize the AD community and provide a unique and valuable opportunity for these families and AD research as a whole.