RUNX1 Research Program 6th Annual Scientific Conference and Patient Meeting

项目摘要 RUNX 1研究计划第六届年度科学会议和患者会议的主要目标是 促进合作，为研究人员、临床医生、 患者及其家属患有一种名为RUNX 1家族性血小板疾病的罕见疾病， 血液恶性肿瘤（RUNX 1-FPD或FPDMM）。患有这种疾病的人有35-50%的终生风险 血液系统恶性肿瘤的可能性在那些发展成恶性肿瘤的人中，超过50%的人被诊断为 急性髓细胞白血病 参加会议的人数每年都在增加。我们于二零二一年的虚拟会议有超过182名与会者。 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，15%的独立调查人员在他们的第一个教师职位上工作了5年或更少。我们计划 继续吸引不同的调查人员。RRP致力于让患者、临床医生 和/或来自代表性不足的种族和族裔群体的研究人员，以扩大这些群体的参与， 在我们的会议和超越社区。 议程包括向所有利益攸关方开放的研究专题会议，以及一个专门讨论以下问题的轨道： RUNX 1-FPD患者和家庭成员。有一些重叠的会议旨在鼓励 两个社区之间的接触。目标是促进和推动患者参与的研究 通过我们的23名成员研究，在会议的制定和规划中直接与患者互动， 患者委员会（RGPC） 会议的研究重点部分将汇集来自血液学领域的专家， 免疫学、肿瘤学、细胞治疗和基础科学，致力于揭示 RUNX 1-FPD发病机制的基础，目标是开发影响 既有出血问题，最重要的是有恶性肿瘤的倾向。观众将包括 研究人员致力于研究RUNX 1，白血病进展，克隆造血，基因编辑， 造血干细胞移植2022年，我们将继续扩大我们的网络，鼓励更多 免疫学家加入并参与其中。通过NHGRI赞助的自然资源调查， RUNX 1-FPD历史研究免疫功能紊乱和炎症性疾病是常见的。RUNX1-FPD 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RUNX 1的活动。

PROJECT SUMMARY The main goal of the RUNX1 Research Program 6th Annual Scientific Conference and Patient Meeting is to foster collaboration and provide opportunities for knowledge and data sharing among 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. Conference participation has grown each year. We had over 182 attendees for the virtual conference in 2021. 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. In 2022, we will continue to expand our network by encouraging more immunologists to join and participate. 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.