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

描述（由申请人提供）：2007 年 6 月，研究甾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 综合征和胆固醇合成先天性缺陷）。从那时起，甾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 SLOS 相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）甾醇代谢异常引起的罕见疾病； 2）甾醇在胚胎发育和中枢神经系统功能中的作用； 3）SLOS及其他甾醇相关遗传病的发病机制； 4）相关动物和细胞疾病模型； 5）从基因型到表型； 6) 对治疗的看法。会议记录将在同行评审期刊上发表。 2013 SLOS 科学会议将于 2013 年 6 月在宾夕法尼亚州匹兹堡举行。会议将以研讨会的形式进行，在介绍性和科学性演讲之后分配大量时间进行讨论。国内外相关专家 领域将被邀请。我们将鼓励年轻科学家和学员参加海报会议并展示他们的工作。旅行奖励将根据提交的优秀摘要颁发。重要的是，该会议将与 SLO/RSH 家庭和医疗半年度会议同时举行。将组织问答环节，议程将为家庭和科学家之间的直接互动提供多种机会。

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.