Smith-Lemli-Opitz syndrome and Inborn Errors of Cholesterol Synthesis

描述(申请人提供)：2007年6月，致力于研究由类固醇代谢异常引起的罕见疾病的临床医生和科学家在俄勒冈州波特兰组织了一次会议(Smith-Lemli-Opitz综合征和先天性胆固醇合成错误)。从那时起，在类固醇和罕见疾病领域取得了很大进展，因此有必要召开另一次会议，将科学家、临床研究人员、受训人员和家庭聚集在一起。拟议会议的总体目标是整合与可持续土地系统有关的各个研究学科的最新信息，并帮助确定未来的研究方向。会议将讨论的主要议题包括：1)由类固醇代谢异常引起的罕见疾病；2)类固醇在胚胎发育和中枢神经系统功能中的作用；3)系统性红斑狼疮和其他类固醇相关遗传性疾病的发病机制；4)相关的动物和细胞疾病模型；5)从基因到表型；以及6)治疗的前景。会议议事录将在同行评议的期刊上发表。2013年SLOS科学会议将于2013年6月在宾夕法尼亚州匹兹堡举行。会议将采取专题讨论会的形式，在介绍性和科学性会谈之后分配大量时间进行讨论。相关领域的国内和国际专家 菲尔兹将被邀请。将鼓励年轻科学家和实习生参加并在海报会议上展示他们的工作。旅游奖项将基于有功的摘要提交。重要的是，会议将与SLO/RSH家庭和医学半年一次的会议一起举行。将组织一个问答环节，议程将为家庭和科学家之间的直接互动提供几个机会。

DESCRIPTION (provided by applicant): In June 2007, clinicians and scientists working on rare diseases caused by abnormal sterol metabolism organized a conference (Smith-Lemli-Opitz Syndrome and Inborn Errors of Cholesterol Synthesis) in Portland, OR. Since then, much progress has been made in the field of sterols and rare diseases so as to warrant another conference that will bring together scientists, clinical investigators, trainees and families. The overall objective of the proposed conference is to integrate the most up-to-date information from various research disciplines relevant to SLOS and help define future research directions. The major topics that will be covered during the conference include: 1) rare diseases caused by abnormal sterol metabolism; 2) role of sterols in embryonic development and central nervous system function; 3) pathogenesis of SLOS and other sterol-related genetic diseases; 4) relevant animal and cellular disease models; 5) from genotype to phenotype; and 6) perspective on therapeutics. The proceedings of the Conference will be published in a peer-reviewed journal. The 2013 SLOS Scientific Conference will be held in June 2013 in Pittsburgh, PA. The Conference will be in the form of a symposium with significant time allocated for discussion periods following introductory and scientific talks. National and international experts in relevant fields will be invited. Young scientists and trainees will be encouraged to attend and present their work at a poster session. Travel awards will be made based on meritorious abstract submissions. Importantly, the Conference will be held in conjunction with the SLO/RSH Family and Medical biannual meeting. A Q & A session will be organized the agenda will allow several opportunities for direct interactions between families and scientists.