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

描述（由申请人提供）：2007年6月，研究由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）。从那时起，固醇和罕见疾病领域取得了很大进展，因此有必要再举行一次会议，将科学家、临床研究人员、学员和家属聚集在一起。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)由异常固醇代谢引起的罕见疾病；2)甾醇在胚胎发育和中枢神经系统功能中的作用；3) sls及其他固醇相关遗传病的发病机制；4)相关动物和细胞疾病模型；5)从基因型到表现型；以及对治疗方法的看法。会议的会议记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。会议将以专题讨论会的形式举行，在介绍和科学会谈之后分配大量时间供讨论。国内和国际相关专家

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.