RUNX1 Research Program 7th Annual Scientific Conference and Patient Meeting

RUNX1 研究计划第七届年度科学会议和患者会议

基本信息

批准号：
10753420
负责人：
Katrin Ericson
金额：
$ 1万
依托单位：
RUNX1 FOUNDATION
依托单位国家：
美国
项目类别：
财政年份：
2023
资助国家：
美国
起止时间：
2023-09-01 至 2024-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10753420
关键词：
Automobile Driving Award Basic Science Cell Therapy Clinical Research Collaborations Communities Community Participation Dedications Development Diagnosis Disease Education Educational workshop Epigenetic Process Ethnic Population Faculty Familial Platelet Disorder Family Family member Fostering Functional disorder Funding Future Genes Genetic Goals Grant Hematologic Neoplasms Hematology Hematopoiesis Hematopoietic Stem Cell Transplantation Hemorrhage Immune System Diseases Immune system Immunology Individual Inflammation Inflammatory Knowledge Learning Link Malignant - descriptor Malignant Neoplasms Methods Mutation National Center for Advancing Translational Sciences National Human Genome Research Institute Natural History Oncology Online Mendelian Inheritance In Man Pathogenesis Patient-Focused Outcomes Patients Positioning Attribute Postdoctoral Fellow Predisposition RUNX1 gene Rare Diseases Research Research Institute Research Personnel Role Scholarship Scientist Somatic Mutation Students Therapeutic Intervention Travel Woman broadening participation research cancer prevention career data sharing design experience genetic counselor graduate student leukemia lifetime risk loss of function mutation meetings member patient engagement patient oriented patient population posters premalignant prevent prevention clinical trial programs racial population research study symposium translational scientist virtual

项目摘要

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.

项目概要 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一个充满活力的会议，以促进协作并提供知识和数据的机会不同的研究人员、临床医生、患者及其家属之间共享一种名为“罕见疾病”的疾病 RUNX1 家族性血小板疾病，易患血液系统恶性肿瘤（RUNX1-FPD 或 FPDMM）。患有这种疾病的人一生中患血液系统恶性肿瘤的风险为 35-50%。那些发展为恶性肿瘤，超过 50% 被诊断患有 AML。这是同类会议中唯一的一次，并将继续成为该疾病的发现和未来治疗的重要组成部分，也是早期职业生涯的机会研究人员、岗位和研究生展示他们的研究。会议参与人数逐年增加。 2021 年的虚拟会议有超过 182 名与会者。到 2022 年，我们有 130 个人——40 名患者和 90 名科学家、临床医生和遗传咨询师——他们参加了。我们为五名值得的年轻研究人员提供了旅行奖学金，以参加由于 NCATS 的资助，会议并出席海报会议。此外，我们还举办了两场重要的与患者和科学家举办研讨会，推动未来以患者为中心的研究和患者参与研究连续体。这是由于我们从以患者为中心的结果研究获得的资助研究所（PCORI）。 2023 年，我们将继续以虚拟方式举行海报会议。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% 的独立研究者在第一个教职岗位上工作了 5 年或更短时间。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我们会议内外的社区。议程包括向所有利益相关者开放的特定研究会议以及专门针对 RUNX1-FPD 患者和家属。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 23 名成员的研究，患者可以直接参与会议的制定和规划由患者委员会 (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，免疫学、肿瘤学、细胞治疗和基础科学致力于揭示其机制 RUNX1-FPD 发病机制的基础，目标是开发影响的治疗干预措施出血问题和最重要的是恶性肿瘤的易感性。观众将包括研究人员致力于研究 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 赞助的自然项目，这一点变得越来越清晰。 RUNX1-FPD的历史研究表明免疫功能障碍和炎症性疾病很常见。 RUNX1-FPD 包括独特的患者群体，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。