宋元宗，男，医学博士，教授，主任医师，博士研究生导师，博士后合作导师，暨南大学附属第一医院儿科副主任(主管医疗工作)，广东省医学会医学遗传学分会委员，广东省医学会罕见病学分会委员。专业方向是小儿遗传病的诊断治疗工作，擅长生化遗传学和分子遗传学。2001年起在国内较早开展遗传代谢病的GC-MS法高危筛查工作。2006年报道国内首例NICCD患者。2006年8月至2007年10月国家公派留学日本，在Citrin缺陷病之母小林圭子博士研究小组从事Citrin缺陷病致病基因SLC25A13新突变识别和分子诊断技术开发。回国后积极开展Citrin缺陷病的基因诊断工作，发现并报道Citrin缺陷病新临床表型FTTDCD，研究并提出治疗奶粉改善NICCD病情的可能机理。主办国家级继续医学教育项目两个，培训全国各地学员120余人。近年来主持国家自然科学基金面上项目3项的科学研究。已接诊来自20多个省、直辖市和自治区的患儿，在遗传代谢病，尤其是Citrin缺陷病的诊治方面已形成专业优势。健康报和中国医学论坛报等多家平面媒体,以及CCTV-10走近科学栏目均曾做过报道。十余次应邀在国际会议上发表演讲，并六次获得国际奖项。获奖情况：1.AsianYoungInvestigatorAward,5thAnnualMeetingoftheAsianSocietyforInheritedMetabolicDiseases,Kumamoto,Japan,20052.YoungInvestigatorsAward,10thInternationalCongressofInbornErrorsofMetabolism.Chiba,Japan,20063.AwardforExcellentStudy,8thAnnualMeetingoftheAsianSocietyforInheritedMetabolicDiseases,Tokyo,Japan,20094.AwardforExcellentStudy,9thAnnualMeetingoftheAsianSocietyforInheritedMetabolicDiseases,Osaka,Japan,20105.AsianInvestigator'sAward,10thAnnualMeetingoftheAsianSocietyforInheritedMetabolicDiseases,Chiba,Japan,2011.6.AsianYoungInvestigator'sAward.11thAnnualMeetingoftheAsianSocietyforInheritedMetabolicDiseases.Gifu,Japan,2012.学术论文：1.SongYZ,LiBX,HaoH,XinRL,ZhangT,ZhangCH,KobayashiK,WangZN,ZhengXY.Selectivescreeningforinbornerrorsofmetabolismandsecondarymethylmalonicaciduriainpregnancyathighriskdistrictofneuraltubedefects:ahumanmetabolomestudybyGC-MSinChina.ClinBiochem.2008,41(7-8):616-620.2.SongYZ,LiBX,ChenFP,LiuSR,ShengJS,UshikaiM,ZhangCH,ZhangT,WangZN,KobayashiK,SahekiT,ZhengXY.Neonatalintrahepaticcholestasiscausedbycitrindeficiency:clinicalandlaboratoryinvestigationof13subjectsinmainlandofChina[J].DigLiverDis.2009,41(9):683-689.3.SongYZ,WenF,ChenFP,KobayashiK,SahekiT.Neonatalintrahepaticcholestasiscausedbycitrindeficiency:efficacyoftherapeuticformulasandupdateofclinicaloutcomes[J].JpnJInheritMetabDis.2010,26(1):57-69.4.GuoL,LiBX,DengM,WenF,JiangJH,TanYQ,SongYZ,LiuZH,ZhangCH,KobayashiK,WangZN.Etiologicalanalysisofneurodevelopmentaldisabilities:Single-centereight-yearclinicalexperienceinsouthChina[J].JBiomedBiotechnol.2011;2011.pii:318616.(Correspondingauthor)5.SongYZ,DengM,ChenFP,WenF,GuoL,CaoSL,GongJ,XuH,JiangGY,ZhongL,KobayashiK,SahekiT,WangZN.Genotypicandphenotypicfeaturesofcitrindeficiency:Five-yearexperienceinaChinesepediatriccenter[J].IntJMolMed.2011,28(1):33-40.6.ZhaoXJ,TangXM,ZhaQB,ShiSS,SongYZ,XiaoXM.Prenataldiagnosisofcitrindeficiencyinachinesefamilywithafatalproband[J].TohokuJExpMed.2011;225(4):273-276.(Correspondingauthor)7.LinWX,ZhangZH,DengM,CaiXR,SongYZ.Multipleovarianantralfolliclesinapreterminfantwithneonatalintrahepaticcholestasiscausedbycitrindeficiency:Aclinical,geneticandtranscriptionalanalysis[J].Gene.2012;505(2):269-275.(Correspondingauthor)8.ZhangZH,LinWX,DengM,ZhaoXJ,SongYZ.MolecularanalysisofSLC25A13geneinhumanperipheralbloodlymphocytes:Markedtranscriptdiversity,andthefeasibilityofcDNAcloningasadiagnostictoolforcitrindeficiency.Gene.2012;511(2):227-234.(Correspondingauthor)9.SongYZ,ZhangZH,LinWX,ZhaoXJ,DengM,MaYL,GuoL,ChenFP,LongXL,HeXL,SunadaY,SonedaS,NakatomiA,DatekiS,NguLH,KobayashiK,SahekiT.SLC25A13geneanalysisincitrindeficiency:sixteennovelmutationsinAsianpatients,andthemutationdistributioninalargepediatriccohortinChina.PLoSOne.2013,8(9):e74544.10.宋元宗,牛美晴,盛建胜,u雄,小林圭子.Citrin缺陷导致的新生儿肝内胆汁淤积症家系SLC25A13基因突变研究.中华儿科杂志.2007,45(6):408-412.11.宋元宗,盛建胜,牛美晴,胡樟,张春花,小林圭子.Citrin缺陷导致的新生儿肝内胆汁淤积症SLC25A13基因三个新突变的识别及诊断.中华儿科杂志.2008,46(6):411-415.12.宋元宗,牛美晴,小林圭子,佐伯武赖.小儿胆汁淤积性肝病的原因学特征.中华儿科杂志,2009,47(8):624-627.
