International Symposium on Juvenile Myelomonocytic Leukemia (JMML)

 描述（由申请人提供）：青少年粒单核细胞白血病（JMML）是一种罕见的致命性儿童疾病，影响4岁以下的婴儿和幼儿。JMML的特征是异常的骨髓细胞过度产生和对GM-CSF的超敏反应。唯一的治愈性疗法是异基因造血干细胞移植;然而，大约一半的儿童在这种积极的治疗后复发。因此，虽然在理解JMML（由诱导RAS-ERK信号通路的功能获得性突变引起）的分子基础方面取得了很大进展，但不幸的是，这种疾病的改进疗法仍有待确定，并且迫切需要。几年来，一个由家庭、科学家和临床医生组成的国际社区已经共同努力推进JMML的研究和改善治疗。这种合作努力的一个关键统一方面是每年两次的国际JMML研讨会与每年两次的JMML工作组交替举行，这些工作组在每年的美国血液学会（ASH）会议之前举行。这些预ASH会议（自2007年以来由NCI通过R13会议拨款支持）为来自欧洲，日本和美国的JMML临床医生和科学家提供了完美的场所，并提供了一种有效的手段来刺激各个团体之间的开放交流和合作。由于JMML是一种罕见疾病，因此对这种疾病采取国际方法尤为必要。由JMML基金会组织和赞助的年度研讨会有四个主要目标：1。通过培养该领域的国内和国际领导人的高水平演讲，分享JMML科学和临床研究的最新进展; 2.为规划和实施针对该疾病患者的创新临床试验提供场所; 3.促进JMML研究者和患者倡导者之间的沟通;以及4.提供一个论坛，让司法监测和监察研究所的初级调查员介绍他们的工作，相互交流，并与外地的高级调查员交流。我们寻求对2015年JMML国际研讨会的支持，该研讨会将与在佛罗里达州奥兰多举行的美国血液学学会年会同时举行。哲学博士、是JMML基金会董事会成员和该领域的研究人员。此外，Mignon L.洛博士，JMML基金会主席Fred Dini先生和Sandra托马斯博士也将参加会议规划小组。

 DESCRIPTION (provided by applicant): Juvenile myelomonocytic leukemia (JMML) is a rare, fatal childhood disease that affects infants and young children less than 4 years of age. JMML is characterized by aberrant myeloid cell overproduction and hypersensitivity to GM-CSF. The only curative therapy is allogeneic hematopoietic stem cell transplantation; however, approximately half of children relapse after this aggressive therapy. Thus, while great advances have been made in understanding the molecular basis for JMML (caused by mutations inducing gain-of- function of the RAS-ERK signaling pathway), unfortunately, improved therapies for this disease remain to be defined and are urgently needed. Over several years, an international community of families, scientists, and clinicians have merged their efforts to advance the research and improved treatment for JMML. A key unifying aspect of this collaborative effort has been the bi-annual International JMML Symposia alternating with bi-annual JMML Working Groups which precede the annual American Society of Hematology (ASH) meetings. These pre-ASH meetings (supported by the NCI via this R13 conference grant since 2007) provide the perfect locale for gathering of JMML clinicians and scientists from Europe, Japan, and the United States, and afford an efficient means of stimulating open communication and collaboration between the various groups. An international approach to this disease is particularly imperative since JMML is a rare disease. The annual symposium organized and sponsored by the JMML Foundation has four major goals: 1. to share the latest developments in JMML scientific and clinical research by fostering high level presentations from leading national and international leaders in the field; 2. to provide a venue for planning and implementing innovative clinical trials for patients with this disease; 3. to facilitate communication between JMML investigators and patient advocates; and 4. to provide a forum in which junior investigators in JMML can present their work and interact with each other and with senior investigators in the field. We seek support for the 2015 JMML International Symposium, which will be held in conjunction with the American Society of Hematology annual meeting in Orlando, FL. The PI for this meeting, Rebecca J. Chan, M.D., Ph.D., is a member of the JMML Foundation Board of Directors and researcher in the field. Additionally, Mignon L. Loh, M.D., a JMML researcher and clinician, Mr. Fred Dini, President of the JMML Foundation, and Dr. Sandra Thomas, will also be part of the conference planning team.