姓名：David Saffen 博士
职称：教授
E-MAIL: saffen@fudan.edu.cn


研究方向
1. 神经精神疾病的分子遗传学，主要研究调控遗传变异对孤独症，精神分裂和阿尔兹海默症的影响
2. 基因表达的遗传学机制
3. 神经细胞的胞内信号传导机制
4. 神经细胞基因的诱导表达
重要学术贡献
近年来主要致力于研究调控遗传变异对人脑基因mRNA表达的影响以及对精神分裂症，孤独症，阿尔兹海默症等复杂神经精神疾病的影响。1）通过对疾病侯选基因等位基因表达差异的研究，以及系统性的研究候选基因组合和通路表达水平改变，寻找更具生物学意义和高效可行的分子生物学标记，从而揭示其与复杂神经精神疾病相关联的分子遗传学机制。2）建立通过决定系数R2来分析顺式调控原件对神经精神疾病侯选基因表达量影响的数学模型。
荣誉与获奖
2013年上海市精品课程医学遗传学（全英语）
2013 基础医学院长奖银奖
2017年度上海高校外国留学生英语授课示范性课程负责人
2017 基础医学院个人奖的优秀奖一等奖
国内外学术团体任职
2014-今 中国精神遗传学会会员
受邀审稿学术刊物
2015-今 精神疾病与脑科学杂志编委
校内学术机构任职
1．建立旨在学习神经退行性进行性疾病和主要精神疾病的分子细胞遗传学机制的神经精神疾病I，II课程 (MED830017/MED130311，MED830018/MED13032)
2. 每年教授MBBS学生遗传与细胞学课程
受邀学术报告
2015.04.12-13. Analyzing contributions of common regulatory genetic variants to Alzheimer’s disease and autism, 第二届中国精神遗传学年会, 昆明
2014. 6.12. Diagnosis of Complex Genetic Disorders in the Age of Genomics: Focus on Autism, 遗传诊断与优生科学第一届西湖论坛, 杭州
2014.4.2-3. Investigating contributions of regulatory genetic variants to neuropsychiatric disorders，第一届中国精神遗传学年会，长沙,
发表论文
1. Chen L, Jensik PJ, Alaimo JT, Walkiewicz M, Berger S, Roeder E, Faqeih EA, Bernstein JA, Smith ACM, Mullegama SV, Saffen DW, Elsea SH*, Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Human Mutation, 2017 Dec;38(12):1774-1785. doi: 10.1002/humu.23339. Epub 2017 Sep 23.
2. Tao Y, Gao H, Ackerman B, Guo W, Saffen D, Shugart YY*. Evidence for contribution of common genetic variants within chromosome 8p21.2-8p21.1 to restricted and repetitive behaviors in autism spectrum disorders. BMC Genomics. 2016 Mar 1;17:163. doi: 10.1186/s12864-016-2475-y.
3. Chen L*, Tao Y, Song F, Yuan X, Wang J, Saffen D*. Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain. Scientific Reports. 2016 Jan 8;6:19010. doi: 10.1038/srep19010.
4. Liu C*, Saffen D*, Schulze TG, Burmeister M, Sham PC, Yao YG, Kuo PH, Chen C, An Y, Dai J, Yue W, Li MX, Xue H, Su B, Chen L, Shi Y, Qiao M, Liu T, Xia K, Chan RCK. Psychiatric genetics in China: achievements and challenges. Molecular Psychiatry. 2016 Jan;21(1):4-9. doi: 10.1038/mp.2015.95. Epub 2015 Oct 20. [*Co-first authors]
5. Saffen D*, The genetic architecture of autism spectrum disorders (ASDs) and the potential importance of common regulatory genetic variants. Science China Life Science. 2015 Oct;58(10):968-75. doi: 10.1007/s11427-012-4336-5.
6. Wang J, Tao Y, Song F, Sun Y, Ott J, Saffen D*, Common Regulatory Variants of CYFIP1 Contribute to Susceptibility for Autism Spectrum Disorder (ASD) and Classical Autism, Annals of Human Genetics, June 19, 2015, doi: 10.1111/ahg.12121. [Epub ahead of print]
7. Gao H, Tao Y, He Q, Song F, Saffen D*, Functional enrichment analysis of three Alzheimer's disease genome-wide association studies identities DAB1 as a novel candidate liability/protective gene, Biochem Biophys Research Communications, 463(4):490-5,2015 2015
8. Zhu M, Tao Y, He Q, Gao H, Song F, Sun YM, Li HL, Wu ZY, Saffen D*, A common GSAP promoter variant contributes to Alzheimer's disease liability, Neurobiology of Aging, 35(11):2656, 2014
9. Xu X, Wang H, Zhu M, Sun Y, Tao Y, He Q, Wang J, Chen L, Saffen D*, Next-generation DNA sequencing-based assay for measuring allelic expression imbalance (AEI) of candidate neuropsychiatric disorder genes in human brain BMC Genomics 12, 518, 2011.
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