RUNX1 Research Program 7th Annual Scientific Conference and Patient Meeting

项目总结 RUNX1研究计划第七届年度科学会议和患者会议的主要目标是 创建动态会议，以促进协作并为知识和数据提供机会 在不同的研究人员、临床医生和患者及其家人之间分享一种罕见的疾病，称为 RUNX1易患恶性血液病的家族性血小板紊乱(RUNX1-FPD或FPDMM)。 患有这种疾病的人一生中有35-50%的风险发展为血液系统恶性肿瘤。对于那些 发展成恶性肿瘤，超过50%被诊断为急性髓系白血病。这是此类会议中唯一的一次，并将继续 是发现和未来治疗该疾病的重要组成部分，也是早期职业生涯的机会 研究人员、帖子和研究生介绍他们的研究。 参加会议的人数每年都在增加。2021年，我们有超过182人参加了虚拟会议。 在2022年，我们有130个人-40名患者和90名科学家、临床医生和遗传顾问-他们 出席了。我们能够向五名称职的年轻调查人员颁发旅行奖学金，让他们参加 由于NCATS的资助，会议并出席海报会议。此外，我们还举办了两个重要的 与患者和科学家一起举办研讨会，以推动未来以患者为中心的研究和患者参与 研究连续体。这要归功于我们从以患者为中心的结果研究中心获得的一笔拨款 研究所(PCORI)。我们将在2023年继续举办招贴会。 在前几年，50%的研究参与者是女性，30%的参与者是博士后或研究生 学生和15%的独立调查人员在他们的第一个教职岗位上的时间不超过5年。我们计划 继续吸引不同受众的调查人员。RRP致力于吸引患者、临床医生 和/或来自代表性不足的种族和民族群体的研究人员，以扩大这些群体的参与 在我们的会议上和其他地方的社区。 该议程包括向所有利益攸关方开放的研究专题会议，以及专门针对 RUNX1-FPD患者及其家属。有一些重叠的会议旨在鼓励 两个社区之间的接触。其目的是促进和推动患者参与的研究 前瞻性，通过我们的23名成员的研究，让患者直接参与到会议的发展和规划中 由患者委员会(RGPC)指导。 会议的研究重点部分将汇集来自血液学领域的专家， 致力于揭示其机制的免疫学、肿瘤学、细胞疗法和基础科学 RUNX1-FPD的发病机制，目标是开发治疗干预措施 既有出血问题，最重要的是有恶变倾向。观众将包括 致力于研究RUNX1、白血病进展、克隆造血、基因编辑和 造血干细胞移植。通过NHGRI赞助的自然基金会，它变得越来越清楚 RUNX1-FPD的病史研究表明，免疫功能障碍和炎性疾病是常见的。RUNX1-平板显示器 包括一个独特的患者群体，其中免疫学和肿瘤学之间可能存在联系 完全取决于单个主调节器RUNX1的活动。

PROJECT SUMMARY The main goal of the RUNX1 Research Program 7th Annual Scientific Conference and Patient Meeting is to create a dynamic convening in order to foster collaboration and provide opportunities for knowledge and data sharing among a diverse set of researchers, clinicians, and patients and their families for a rare disease called RUNX1 familial platelet disorder with predisposition to hematologic malignancies (RUNX1-FPD or FPDMM). Individuals with the disorder have a 35-50% lifetime risk of developing a hematologic malignancy. Of those who develop a malignancy, over 50% are diagnosed with AML. It is the only convening of its kind and continues to be an important part of discovery and future therapies for the disorder as well as an opportunity for early career investigators, posts and graduate students to present their research. Conference participation has grown each year. We had over 182 attendees for the virtual conference in 2021. In 2022, we had 130 individuals - 40 patients and 90 scientists, clinicians and genetic counselors - who attended. We were able to award five deserving young investigators with travel scholarships to attend the conference and present at the poster sessions due to NCATS funding. Furthermore, we held two important workshops with patients and scientists to drive future patient-centered research and patient involvement in the research continuum. This was due to a grant we received from the Patient-Centered Outcomes Research Institute (PCORI). We will continue to hold the poster session virtually in 2023. In previous years, 50% of research attendees were women, 30% of attendees were post-docs or graduate students, and 15% of independent investigators were 5 years or less in their first faculty position. We plan to continue to engage a diverse audience of investigators. RRP is committed to engaging patients, clinicians and/or researchers from underrepresented racial and ethnic groups to broaden participation from these communities at our conference and beyond. The agenda includes research-specific sessions open to all stakeholders as well as a track dedicated to RUNX1-FPD patients and family members. There are some overlapping sessions designed to encourage engagement between the two communities. The objective is to promote and drive patient-engaged research forward, with direct patient input in the development and planning of the sessions via our 23-member Research Guided by Patients Committee (RGPC). The research focused portion of the meeting will bring together experts from the fields of hematology, immunology, oncology, cell therapy and basic science who are committed to uncovering the mechanisms underlying the pathogenesis of RUNX1-FPD with the goal of developing therapeutic interventions that impact both the bleeding issues and most importantly the predisposition to malignancy. The audience will include investigators devoted to studying RUNX1, leukemia progression, clonal hematopoiesis, gene editing, and hematopoietic stem cell transplants. It has become increasingly clear through the NHGRI-sponsored natural history study of RUNX1-FPD that immune dysfunction and inflammatory disorders are common. RUNX1-FPD includes a unique patient population where there may be a nexus between immunology and oncology based entirely on activity of a single master regulator, RUNX1.