Syvänen Ann-Christine
Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Ups J Med Sci. 2024 Dec 9;129. doi: 10.48101/ujms.v129.11134. eCollection 2024.
In the 1980s, my research career begun with microbial DNA diagnostics at Orion Pharmaceutica in Helsinki, Finland, where I was part of an innovative team that developed novel methods based on the polymerase chain reaction (PCR) and the biotin-avidin interaction. One of our key achievements during this time was the invention of the solid-phase minisequencing method for genotyping single nucleotide polymorphisms (SNPs). In the 1990s, I shifted focus to human genetics, investigating mutations of the 'Finnish disease heritage'. During this period, I also developed quantitative methods using PCR and minisequencing of mitochondrial mutations and for forensic analyses. In the late 1990s and early 2000s, microarray-based SNP genotyping became a major topic for my research, first in Helsinki and later with my research group at Uppsala University in Sweden. By the mid-2000s, I began collaborating with leading clinicians on genetics of autoimmune disease, specifically systemic lupus erythematosus and later worked on the classification and clinical outcome of pediatric acute lymphoblastic leukemia, when large-scale genomics and epigenomics emerged. These collaborations, which focused on integrating genomics into clinical practice, lasted almost two decades until I retired from research in 2022. In parallel with my research activities, I led the SNP/DNA Technology Platform in the Wallenberg Consortium North program from 2001 to 2006. I continued as Director of the SNP&SEQ Technology Platform, which expanded rapidly during the 2010s, and became part of Science for Life Laboratory in 2013. Today (in 2024), the SNP&SEQ Technology Platform is one of the largest units of the Swedish National Genomics Infrastructure hosted by SciLifeLab. The present article provides a personal perspective on nearly four decades of research, highlighting projects and methods I found particularly exciting or important.
20世纪80年代，我的研究生涯始于芬兰赫尔辛基的奥立安制药公司的微生物DNA诊断工作，我是一个创新团队的成员，该团队基于聚合酶链反应（PCR）和生物素-抗生物素蛋白相互作用开发了新方法。在此期间，我们的一项关键成就是发明了用于单核苷酸多态性（SNP）基因分型的固相微测序方法。20世纪90年代，我将研究重点转向人类遗传学，研究“芬兰疾病遗产”的突变。在此期间，我还开发了使用PCR和线粒体突变微测序的定量方法以及用于法医分析的方法。在20世纪90年代末和21世纪初，基于微阵列的SNP基因分型成为我研究的一个主要课题，最初是在赫尔辛基，后来是在瑞典乌普萨拉大学与我的研究小组一起。到21世纪中期，我开始与顶尖临床医生合作研究自身免疫性疾病的遗传学，特别是系统性红斑狼疮，后来又研究儿童急性淋巴细胞白血病的分类和临床结果，当时大规模基因组学和表观基因组学出现了。这些专注于将基因组学整合到临床实践中的合作持续了近二十年，直到我在2022年从研究岗位退休。在进行研究活动的同时，我在2001年至2006年期间领导了瓦伦贝格联盟北方计划中的SNP/DNA技术平台。我继续担任SNP&SEQ技术平台的主任，该平台在21世纪10年代迅速发展，并于2013年成为生命科学实验室的一部分。如今（2024年），SNP&SEQ技术平台是由SciLifeLab主办的瑞典国家基因组学基础设施中最大的单位之一。本文提供了一个关于近四十年研究的个人视角，重点介绍了我认为特别令人兴奋或重要的项目和方法。
