4th International Congress on Shwachman-Diamond Syndrome

描述(由申请人提供)： Shwachman-Diamond综合征是一种涉及多器官系统的常染色体隐性遗传性疾病。典型的临床特征包括胰腺外分泌功能不全、骨髓衰竭和白血病易感性。其他器官系统，如骨骼系统、肝脏系统、心脏系统、免疫系统和牙科系统也可能受到影响。自2001年以来，关于Shwachman-Diamond综合征的国际大会每两年举行一次，以促进临床和基础科学研究人员与参与病人护理的临床领导人之间的科学和医学信息交流。我们的主要目标是与波士顿儿童医院合作，于2007年6月10日至12日主办第四届Shwachman-Diamond综合征国际大会。考虑到最近对SBDS基因的鉴定和对SBDS功能的研究，2007年的会议应该特别令人兴奋。 这次会议的目标是： 1.为来自不同临床亚科和科学学科的研究人员和具有Shwachman-Diamond综合征专业知识的临床医生之间提供一个独特的论坛。 2.为介绍和批判性审查该领域的最新研究成果提供一个平台。 3.促进在造血、癌症易感性和器官发生等更广泛的背景下考虑Shwachman-Diamond综合征。 4.鼓励、促进和促进具有互补技能的调查人员之间的合作，这些领域来自与SDS有关的不同但相关的领域。 5.吸引新的年轻研究人员进入该领域。 6.向临床医生和研究人员教授这种疾病的临床和分子方面的知识。 7.整理和发表会议上提交的最新临床和研究结果的摘要。 计划举行11次单独的会议，在每一次会议结束时举行一次一般性小组讨论。第一天的前三次会议将集中于临床工作、管理和治疗。接下来的第二天和第三天的八个会议将集中讨论当前的科学研究。其中一次会议将专门讨论从提交的摘要和具有重大意义的最新发现中挑选出来的演讲。两个讲习班将有助于就临床诊断标准和病人登记册的发展进行对话。一个晚上的海报会议还将包括来自所有学科的演示文稿。

DESCRIPTION (provided by applicant): Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder involving multiple organ systems. Characteristic clinical features include exocrine pancreatic insufficiency, bone marrow failure, and leukemia predisposition. Additional organ systems, such as skeletal, hepatic, cardiac, immunologic, and dental systems, may also be affected. The International Congress on Shwachman-Diamond Syndrome has been held biannually since 2001 to promote the exchange of scientific and medical information between clinical and basic science investigators and clinical leaders involved in patient care. Our major objective is to host the Fourth International Congress on Shwachman-Diamond syndrome in collaboration with the Children's Hospital of Boston from June 10-12, 2007. The 2007 meeting should be especially exciting given the recent identification of the SBDS gene and investigations into SBDS function. The goals of this conference are: 1. To provide a unique forum for discourse between researchers and clinicians with expertise in Shwachman-Diamond syndrome from different clinical subspecialties and scientific disciplines. 2. To provide a platform for the presentation and critical review of the newest research findings in this field. 3. To stimulate consideration of Shwachman-Diamond syndrome within the broader contexts of hematopoiesis, cancer predisposition, and organogenesis. 4. To encourage, foster, and facilitate collaborations between investigators with complementing skills from diverse, but relevant areas that relate to SDS. 5. To attract new young investigators to the field. 6. To teach clinicians and researchers about the clinical and molecular aspects of this disorder. 7. To collate and publish a summary of the latest clinical and research findings presented at the meeting. Eleven individual sessions are planned with a general panel discussion at the end of each session. The first three sessions on day one will focus on clinical work-up, management, and treatment. The next eight sessions on days two and three will focus on current scientific research. One session will be devoted exclusively to talks chosen from the submitted abstracts and late-breaking discoveries of major significance. Two workshops will be help to invite dialogue on clinical diagnostic criteria and on the development of patient registries. One evening poster session will also feature a mix of presentations from all disciplines.