Mattel Children's Hospital UCLA, MDCC 22-412, David Geffen School of Medicine at UCLA, 10833 Le Conte Ave, Los Angeles, CA 90095-1752, USA.
Mol Genet Metab. 2010 May;100(1):1-5. doi: 10.1016/j.ymgme.2010.01.009. Epub 2010 Jan 25.
Thank you for honoring me by allowing me to serve as president of the 11th International Congress of Inborn Errors of Metabolism (ICIEM). The science brought by the IEM community to the Congress was quite impressive and demonstrated the quality of research within this community. In this address, I will consider briefly the history of IEMs to determine how we have arrived where we are, and will spend more time ascertaining our place in the current biomedical community and our role in determining the future of personalized medicine. In the 1950s-1970s new tools were added to expand our ability to interrogate the metabolome and the result was an explosive increase in the number of IEMs. This set the stage for expanded newborn screening (NBS) by tandem mass spectrometry (MS/MS) to identify these patients and to intervene pre-symptomatically. The complexity of the metabolome has led us to utilize the mathematical algorithms of systems biology to reduce high dimensionality data to low dimensionality output. However, the metabolome does not exist in isolation and we must learn how to integrate the metabolome with other xomics. The metabolome is our world and the IEM community has much to share with the broader xomics communities by integrating what we have learned with the other xomics communities. They are seeking access to the metabolome as a closer measure of phenotype, and we are already extremely comfortable and competent in the metabolomic space. But we should not be insular in our occupation of this space. NBS should be the model for personalized medicine, because it is already functioning as testing system for predictive, preventive and personalized care. We have been working in the area of NBS for nearly a half century and have many lessons learned that will be valuable to the practitioners of personalized medicine - lessons that they should not have to rediscover. We must embrace the international IEM community to meet population trends and to improve the care for individuals - children and adults - with IEMs. Demographic projections indicate the countries with largest population growth during the next four decades will be in Asia and we need to work collaboratively to build capacity in the IEM community in Asia and beyond to other underserved regions of the world.
感谢大家允许我担任第 11 届国际先天性代谢缺陷大会(ICIEM)主席,这是对我的一种莫大的荣誉。先天性代谢缺陷领域的同仁们在本次大会上呈现的科学成果令人印象深刻,充分展示了该领域的研究质量。在本次演讲中,我将简要回顾先天性代谢缺陷的历史,以了解我们是如何走到今天这一步的,并将花费更多时间来确定我们在当前生物医学领域中的位置,以及我们在确定个性化医学的未来方面所扮演的角色。在 20 世纪 50 年代至 70 年代,新的工具被加入进来,以扩展我们研究代谢组的能力,结果是先天性代谢缺陷的数量呈爆炸式增长。这为利用串联质谱法(MS/MS)进行扩展的新生儿筛查(NBS)奠定了基础,以便识别这些患者,并进行症状前干预。代谢组的复杂性促使我们利用系统生物学的数学算法,将高维数据降维为低维输出。然而,代谢组并不是孤立存在的,我们必须学会如何将代谢组与其他组学整合起来。代谢组是我们的世界,先天性代谢缺陷领域的同仁们有很多东西可以与更广泛的组学领域分享,将我们从其他组学领域学到的知识与代谢组学整合起来。他们正在寻求将代谢组作为更接近表型的衡量标准,而我们在代谢组学领域已经非常熟悉和有能力了。但是,我们不应该在这个领域中孤立自己。NBS 应该是个性化医学的典范,因为它已经作为预测性、预防性和个性化护理的测试系统而运作。我们在 NBS 领域已经工作了近半个世纪,积累了许多宝贵的经验,这些经验对于个性化医学的从业者来说将是非常有价值的,他们不应该重新发现这些经验。我们必须拥抱国际性的先天性代谢缺陷领域,以应对人口趋势,并改善患有先天性代谢缺陷的个体(儿童和成人)的护理。人口预测表明,在未来四十年里,人口增长最大的国家将在亚洲,我们需要合作,在亚洲及其他欠发达地区建立先天性代谢缺陷领域的能力。