CdLS Scientific Symposium and 22nd National Meeting

描述（由申请人提供）：Cornelia de Lange综合征（CdLS）是一种罕见的畸形综合征，其特征是身材矮小，肢体异常，面部特征明显，心脏和胃肠道并发症，智力迟钝和行为问题。发病率约为万分之一，尽管较轻的病例可能未被确诊。透过家长支援机构CdLS基金会，家庭成员每年聚会一次，彼此会面，并与医护人员会面，讨论和了解更多关于CdLS的知识，这已经有20多年的历史了；这些会议的规模和范围都在扩大。专业人员总是参加家庭会议，但没有一个专门的论坛来展示他们的研究或临床观察，也没有一个专门的论坛来发展进一步的合作。本申请要求在2004年6月24日至27日在芝加哥举行的第22届全国CdLS会议之前举行一次科学研讨会。这些科学会议将每两年举行一次。会议将包括并鼓励妇女、少数民族和学员的参与。会议的目标包括：1)为介绍CdLS的临床和基础科学研究提供一个论坛，2)创造一个环境，使专家能够相互交流，并与CdLS家族进行合作和未来的研究事业，3)在科学和医学界提高对CdLS的兴趣，并鼓励研究人员发表和展示他们在该领域的工作。组织者希望激发热情和合作，鼓励以前没有参与CdLS的个人对该领域的兴趣，并为研究和临床倡议创造新的想法。这次会议将使与会者以及受影响个人的家庭受益。

DESCRIPTION (provided by applicant): Cornelia de Lange syndrome (CdLS) is a rare malformation syndrome characterized by small stature, limb abnormalities, distinctive facial features, cardiac and gastrointestinal complications, mental retardation, and behavioral issues. The incidence is approximately 1 in 10,000 births, although milder cases are likely underdiagnosed. Through the parent support organization, the CdLS Foundation, families have been gathering annually for over 20 years to meet with each other and with healthcare professionals to discuss and learn more about CdLS; these conferences have grown in size and scope. Professionals have always attended family meetings, but have not had a dedicated forum for presentation of their research or clinical observations, nor for development of further collaboration. This current application requests support for a scientific symposium to be held prior to the 22nd National CdLS Conference in Chicago in June 24-27th 2004. These scientific meetings will be held on a biennial basis. The conference will include and encourage the participation of women, minorities, and trainees. The objectives of the meeting include: 1) providing a forum for the presentation of clinical and basic science research into CdLS, 2) creating an environment in which specialists can interact with each other and CdLS families to engender collaborations and future research undertakings, and 3) generating increased interest in CdLS in the scientific and medical community and encourage researchers to publish and present their work in the field. The organizers expect to generate enthusiasm and collaboration, encourage interest in the field from individuals not previously involved in CdLS, as well as create new ideas for research and clinical initiatives. This meeting will benefit the participants as well as families of affected individuals.