Great Plains Rare Disease Summit

项目总结 在美国，罕见疾病的定义是每5000名患者中就有一人患病。虽然奇怪的是 罕见，加起来有7000多种罕见疾病，大约每10个美国人中就有1个受到影响。为了这些 患者，往往很难找到或建立患者支持网络，也很难获得关于他们的最新研究 一种特殊的罕见疾病。桑福德研究小组在桑福德协调罕见疾病(CORDS) 注册项目已经有九年的历史，每年都会为医疗专业人员举办一次罕见疾病研讨会， 科学家、罕见疾病患者和患者权益倡导者。这一活动最初是草根阶层的努力， 作为一次合作研究峰会，吸引了来自大平原各州的与会者。有了这个提议， 我们的目标是将这一次为期一天的活动发展成为为期多天的大平原罕见疾病峰会，将提供 以患者可获得的形式获得最高标准的科学和临床研究， 倡导者和社区成员。将与会者混合在一起有助于在以下方面进行交流 研究和患者社区。调查人员将在听取了患者的意见后离开会议 并更好地了解疾病对人的影响。同样，患者和倡导者 会对他们的情况有更好的科学了解，并可以回到他们的社区 更有效和更有活力的罕见病研究和认识倡导者。虽然罕见的疾病事件 在美国各地举行，没有一个是在大平原地区一致举行的。为家属和患者倡导 对于医疗费用和健康障碍较高的群体，参加这些活动的费用或后勤费用可能会令人望而却步 很有挑战性。通过将会议带到他们所在的地区，我们正在提供一个亟需的、 与研究界的互惠关系。 我们的目标是将大平原罕见病峰会作为科学家的目的地会议， 医疗专业人士、患者、倡导者和整个美国的行业。每年，大会都将 促进罕见疾病的开创性研究，为两国之间的对话提供重要途径 科学家、临床医生和那些受他们研究和治疗的疾病影响的人。我们将实现这些目标 通过1)为农村罕见病患者、照顾者和倡导者提供高质量的罕见病 教育和支持；2)为专家提供展示尖端研究的论坛；3)建立稀有的 在该地区为患者、护理人员和倡导者提供疾病社区；以及4)开发创新的新 促进大平原地区罕见病教育和研究的计划。

PROJECT SUMMARY Rare diseases are defined as those diseases affecting less than 1 in 5000 patients in the US. Although singularly rare, combined there are over 7000 rare disease that affect approximately 1 in every 10 Americans. For these patients, it is often difficult to find or build patient support networks or gain access to the latest research on their particular rare disease. The team in the Sanford Research's Coordination of Rare Diseases at Sanford (CoRDS) registry program has a nine-year history of hosting an annual rare disease symposium for medical professions, scientists, rare disease patients, and patient advocates. This event, which started as a grassroots effort, serves as a collaborative research summit drawing attendees from across the Great Plain states. With this proposal, our goal is to grow this once one-day event into a multi-day Great Plains Rare Disease Summit that will provide access to the highest standard of scientific and clinical research in a format that is accessible to patients, advocates and community members. Incorporating this mix of attendees encourages communication between the research and patient communities. Investigators will come away from the meeting having heard the patient's story and have a better understanding of how the disease impacts the person. Likewise, patients and advocates will come away with a better scientific understanding of their condition and can go back to their communities as more effective and energized advocates for rare disease research and awareness. Although rare disease events are held across the US, none are held consistently in the Great Plains region. For families and patient advocacy groups with high medical costs and health barriers, attending these events can be cost prohibitive or logistically challenging. By bringing the conference to the region in which they live, we are providing a much needed, mutually beneficial connection to the research world. Our objective is to establish the Great Plains Rare Disease Summit as a destination conference for scientists, medical professionals, patients, advocates, and industry throughout the US. Each year, the conference will promote groundbreaking research in rare diseases and provide an important avenue for conversation between scientists, clinicians, and those affected by the diseases they study and treat. We will achieve these objectives by 1) providing rural rare disease patients, caregivers and advocates access to a high quality rare disease education and support; 2) providing a forum for experts to present cutting edge research; 3) building up the rare disease community in the region for patients, caregivers, and advocates; and 4) developing an innovative new program that promotes rare disease education and research in the Great Plains.