4th International Congress on Shwachman-Diamond Syndrome

描述（由申请人提供）： Shwachman-Diamond综合征（SDS）是一种累及多器官系统的常染色体隐性遗传病。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，肝脏，心脏，免疫和牙齿系统，也可能受到影响。自2001年以来，国际Shwachman-Diamond综合征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患者护理的临床领导者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。2007年的会议应该特别令人兴奋，因为最近发现了SBDS基因，并对SBDS功能进行了调查。 本次会议的目标是： 1.为来自不同临床亚专业和科学学科的具有Shwachman-Diamond综合征专业知识的研究人员和临床医生之间的对话提供一个独特的论坛。 2.提供一个展示和评论该领域最新研究成果的平台。 3.激发在造血、癌症易感性和器官发生的更广泛背景下考虑Shwachman-Diamond综合征。 4.鼓励、培养和促进调查人员之间的合作，这些调查人员具有与SDS相关的不同但相关的领域的补充技能。 5.以吸引年轻的调查员。 6.教授临床医生和研究人员关于这种疾病的临床和分子方面的知识。 7.整理及发表在会议上发表的最新临床及研究结果摘要。 计划举行11次单独会议，每一次会议结束时举行一般性小组讨论。第一天的前三个会议将集中在临床检查，管理和治疗。接下来的第二天和第三天的八场会议将集中讨论当前的科学研究。一个会议将专门用于从提交的摘要和重大意义的最新发现中选择的谈话。两个讲习班将有助于邀请就临床诊断标准和病人登记的发展进行对话。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.