人物經歷
廣東省醫學會醫學遺傳學分會委員。專業方向是小兒遺傳病的診斷治療工作,擅長生化遺傳學和分子遺傳學。2001年起在國內較早開展遺傳代謝病的GC-MS法高危篩查工作。2006年報導國內首例NICCD患者。
2006年8月至2007年10月國家公派留學日本,在Citrin缺陷病之母小林圭子博士研究小組從事Citrin缺陷病致病基因SLC25A13新突變識別和分子診斷技術開發。回國後積極開展Citrin缺陷病的基因診斷工作,發現並報導Citrin缺陷病新臨床表型FTTDCD,研究並提出治療奶粉改善NICCD病情的可能機理。主辦國家級繼續醫學教育項目兩個,培訓全國各地學員120餘人。主持廣東省醫學科研基金2項、中國博士後科學基金、國家自然科學基金面上項目和國家973項目子課題各一項。已接診來自20多個省、直轄市和自治區的患兒,在遺傳代謝病,尤其是Citrin缺陷病的診治方面已形成專業優勢。健康報和中國醫學論壇報等多家平面媒體,以及CCTV-10走近科學欄目均曾做過報導。十餘次應邀在國際會議上發表演講,並五次獲得國際獎項。
個人成就
獲獎情況:
1.Asian Young Investigator Award,5th Annual Meeting of the Asian Society for Inherited Metabolic Diseases,Kumamoto,Japan,2005
2.Young Investigators Award,10th International Congress of Inborn Errors of Metabolism. Chiba,Japan,2006
3.Award for Excellent Study, 8th Annual Meeting of the Asian Society for Inherited Metabolic Diseases, Tokyo, Japan, 2009
4.Award for Excellent Study, 9th Annual Meeting of the Asian Society for Inherited Metabolic Diseases, Osaka, Japan, 2010
5.Asian Investigator's Award, 10th Annual Meeting of the Asian Society for Inherited Metabolic Diseases, Chiba, Japan, 2011.
學術論文:
1. Song YZ, Li BX, Hao H, Xin RL, Zhang T, Zhang CH, Kobayashi K, Wang ZN, Zheng XY. Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China. Clin Biochem. 2008, 41(7-8): 616-620.
2. Song YZ, Li BX, Chen FP, Liu SR, Sheng JS, Ushikai M, Zhang CH, Zhang T, Wang ZN, Kobayashi K, Saheki T, Zheng XY. Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China [J]. Dig Liver Dis.2009,41(9):683-689.
3. Song YZ, Wen F, Chen FP, Kobayashi K, Saheki T. Neonatal intrahepatic cholestasis caused by citrin deficiency: efficacy of therapeutic formulas and update of clinical outcomes [J]. Jpn J Inherit Metab Dis. 2010, 26(1):57-69.
4. Guo L, Li BX, Deng M, Wen F, Jiang JH, Tan YQ, Song YZ, Liu ZH, Zhang CH, Kobayashi K, Wang ZN.Etiological analysis of neurodevelopmental disabilities: Single-center eight-year clinical experience in south China[J].J Biomed Biotechnol. 2011;2011. pii: 318616. (Corresponding author)
5. Song YZ, Deng M, Chen FP, Wen F, Guo L, Cao SL, Gong J, Xu H, Jiang GY, Zhong L, Kobayashi K, Saheki T, Wang ZN.Genotypic and phenotypic features of citrin deficiency: Five-year experience in a Chinese pediatric center[J]. Int J Mol Med.2011,28(1):33-40.
6.Zhao XJ, Tang XM, Zha QB, Shi SS, Song YZ, Xiao XM.Prenatal diagnosis of citrin deficiency in a chinese family with a fatal proband[J].Tohoku J Exp Med. 2011;225(4):273-276.(Corresponding author)
7. 宋元宗, 牛飼美晴, 盛建勝, 飯島乾雄, 小林圭子. Citrin缺陷導致的新生兒肝內膽汁淤積症家系SLC25A13基因突變研究. 中華兒科雜誌. 2007, 45(6): 408-412.
8. 宋元宗, 盛建勝, 牛飼美晴, 胡務亮, 張春花, 小林圭子. Citrin缺陷導致的新生兒肝內膽汁淤積症SLC25A13基因三個新突變的識別及診斷. 中華兒科雜誌. 2008, 46(6): 411-415.
9. 宋元宗,牛飼美晴,小林圭子,佐伯武賴. 小兒膽汁淤積性肝病的原因學特徵.中華兒科雜誌,2009,47(8):624-627.
宋元宗教授是2010年12月19日中央電視台10套《走近科學》:哺乳的意外 節目中希特林缺陷症患兒“小宇”的主治醫生。
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