International Centennial Meeting on Pseudoxanthoma Elasticum: progress in PXE research.
International Centennial Meeting on Pseudoxanthoma Elasticum: progress in PXE research.
复制标题
国际弹性假黄瘤百年会议：PXE 研究进展。
DOI：
10.1046/j.1523-1747.1998.00188.x
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发表时间：
1998
期刊：
影响因子：
--
通讯作者：
Terry,S
中科院分区：
文献类型：
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作者：
Uitto,J;Boyd,CD;Lebwohl,MG;Moshell,AN;Rosenbloom,J;Terry,S
1997年11月6日和7日，在马里兰州的贝塞斯达举行了为期两天的题为"弹性假黄瘤国际百年会议"的研讨会。会议由一个由本报告作者组成的委员会计划，并由杰斐逊医学院皮肤病学和皮肤生物学系的Jouni Uitto博士主持。PXE国际主席Sharon Terry女士担任会议协调员。来自9个不同国家的约50名科学家和医生以及患者权益组织的几名代表出席了会议。出于几个原因，这次会议被认为非常及时。首先，弹性假黄瘤（pseudoxanthoma elasticum，PXE）的最初明确描述出现在大约100年前的医学文献中，即1896年，并明确将这种疾病描述为与黄瘤不同的实体（Darier，1896）。其次，自1992年在杰斐逊医学院举行的上一次PXE研讨会（Christiano et al，1992）以来，已经过去了5年。最后，在过去的5年里，对PXE各个方面的理解取得了巨大的进展，事实上，大多数PXE病例的候选基因最近已经被定位到人类基因组中16p13的一个独特的染色体区域。1（Struk等，1997;货车索斯特等，1997）。会议的主旨发言人是美国国立卫生研究院国家人类基因组研究所所长弗朗西斯柯林斯博士。柯林斯博士强调了人类基因组计划的进展，他报告说，这是"按时和按预算进行的"。该项目的目标是到2005年完成整个人类基因组的测序（柯林斯，1997）。很明显，这些努力对阐明遗传性疾病（如PXE）中的遗传缺陷产生了重大影响。柯林斯博士还强调了在这些相对罕见的疾病研究方面合作的重要性。柯林斯博士进一步强调，遗传学已成为医学的核心科学，对分子诊断、诊断和遗传咨询具有重大意义。遗传性疾病中候选基因的鉴定和突变的阐明构成了在有复发风险的家庭中进行产前检测的基础，并最终以基因治疗的形式治愈这些疾病。与此同时，随着人们认识到基因歧视的可能性，在了解单基因疾病和多因素疾病的遗传基础方面取得的进展在公共政策竞技场提出了若干问题。显然，必须制定解决这些问题的办法，以便从最新的基因发现中为受影响的个人及其家庭提供最大的利益。随后的研讨会有21位国际公认的科学家，他们的演讲描述了病理生理学和遗传学，
A 2 day symposium entitled ‘‘International Centennial Meeting on Pseudoxanthoma Elasticum’’was held in Bethesda, Maryland, on November 6 and 7, 1997. The meeting was planned by a committee consisting of the authors of this report and was chaired by Dr. Jouni Uitto, Department of Dermatology and Cutaneous Biology at Jefferson Medical College. Ms. Sharon Terry, President of PXE International, served as meeting coordinator. This meeting was attended by about 50 scientists and physicians from nine different countries, as well as several representatives of the patient advocacy organizations. This meeting was considered extremely timely for several reasons. First, the initial definitive description of pseudoxanthoma elasticum (PXE) appeared in the medical literature just about 100 years ago, in 1896, and clearly delineated this disorder as an entity distinct from xanthomas (Darier, 1896). Second, 5 years had passed since the previous PXE symposium that was held at Jefferson Medical College in 1992 (Christiano et al, 1992). Finally, the progress in understanding various facets of PXE has advanced tremendously during the past 5 years, and in fact, the candidate gene underlying the majority of cases with PXE has been recently mapped to a distinct chromosomal region in the human genome at 16p13. 1 (Struk et al, 1997; van Soest et al, 1997). The keynote speaker of the meeting was Dr. Francis Collins, Director of the National Human Genome Research Institute, National Institutes of Health. Dr. Collins highlighted the advances of the human genome project that, he reported, is ‘‘on time and on budget.’’The goal of this project is to complete the sequencing of the entire human genome by year 2005 (Collins, 1997). It is clear that these efforts are making a major impact on elucidation of genetic defects in heritable diseases, such as PXE. Dr. Collins also emphasized the importance of collaborations with regard to studies on such relatively rare diseases. Dr. Collins further emphasized the fact that genetics has become the central science of medicine, with major implications for molecular diagnostics, prognostication, and genetic counselling. Identification of candidate genes and elucidation of mutations in heritable diseases form the basis for prenatal testing in families at risk for recurrence, and ultimately cure of these diseases in the form of gene therapy. At the same time, the progress in understanding the genetic basis of both monogenic as well as multifactorial diseases has raised several issues in the public policy arena, with the recognition of potential for genetic discrimination. Clearly, solutions for such issues have to be developed in order to provide maximum benefit from the latest genetic discoveries to the affected individuals and their families. The ensuing symposium featured 21 internationally recognized scientists whose presentations described the pathophysiology and genet-