The Dominantly Inherited Alzheimer Disease Family Conference

项目总结 阿尔茨海默病(AD)日益被认为是21世纪最大的公共卫生问题之一 世纪。显性遗传性阿尔茨海默病(DIAD)是由特定的基因突变引起的，症状出现在 30岁、40岁和50岁。尽管这一人群在所有AD病例中所占比例不到1%，但DIAD是极其宝贵的 以促进我们对这种疾病的了解。因为DIAD突变携带者肯定会发展成 痴呆症的发病年龄是可预测的，研究人员可以识别早期症状并测试预防性治疗 这可能会帮助全球4400万受AD影响的人。然而，大规模的观测研究和 在这一人群中的临床试验是在过去十年才出现的，而且研究是密集的，需要 与会者的巨大承诺。一个专门的机制来教育研究人员、参与者、 制药公司和监管机构对DIAD的研究目前是一个未得到满足的需求。 2015年，华盛顿大学和阿尔茨海默氏症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 让患有DIAD的家庭总结这一领域的状况，并确定我们目标的最佳前进方向 预防AD(1-3；2015年精彩视频)。这一巨大的成功导致了一种呼吁，即这是一种经常性的 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，目前的提案要求四年的资金，这将是 再加上阿尔茨海默氏症协会的承诺支持。会议目标包括提供一个论坛 关于研究、试验设计、药物开发和AD提出的其他主题的互动对话 研究人员、DIAD家庭、监管机构、医药代表和非营利组织； 团结DIAD科学家并总结DIAD的研究状况；向家庭提供信息和支持 患有并面临发展成DIAD的风险。为了实现这些具体目标，我们设计了一整天的时间 会议的重点是科学内容、实用信息、支持会议和联网机会。 海报会议、两次休息、午餐和招待会为以下人员提供了个人互动的机会 与会者、科学家和演讲者。作为这些会议的结果，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 向患者学习，留存和参与研究的人数可能会增加。考虑到这段经历 联合主办方、策划委员会和演讲者的专业知识，过去的会议成功，与 主要的AD大会AAIC，以及新颖的编程，我们期待这一反复发生的事件将为AD注入活力 并为这些家庭和整个AD研究提供了一个独特而宝贵的机会。

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.