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

描述（由申请人提供）：2007年6月，研究异常固醇代谢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）。自那时以来，在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。拟议的会议的总体目标是综合与SLOS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。会议期间将涵盖的主要议题包括：1）异常固醇代谢引起的罕见疾病; 2）固醇在胚胎发育和中枢神经系统功能中的作用; 3）SLOS和其他固醇相关遗传疾病的发病机制; 4）相关动物和细胞疾病模型; 5）从基因型到表型;和6）治疗学的观点。会议记录将在一份同行评审的期刊上发表。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，在介绍性和科学性的讨论之后，将拨出大量时间进行讨论。国家和国际专家在有关 将邀请外地。将鼓励青年科学家和受训人员参加海报展示会并介绍其工作。旅行奖将根据有价值的摘要提交。重要的是，会议将与SLO/RSH家庭和医疗半年度会议一起举行。将组织一次问答会议，议程将为家庭和科学家之间的直接互动提供几次机会。

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.