本团队聚焦神经系统遗传与退行性性疾病的遗传基础、基因诊断、分子机制及个体化精准诊疗研究和服务。重点开展：（1）基因分析技术的研发：开发了临床大夫可用的遗传数据库和二代测序全自动分析系统-SeqMax，以及在线基因分析和检索数据库-Pubvar，并在此基础上建立了快速二代测序分析流程，使临床二代基因检测报告缩短了一半以上的时间；（2）神经疾病分子会诊模式的建立与推广：整合临床神经病学、遗传学、优生科学、影像学、蛋白组学、代谢组学等技术，为全国神经遗传及疑难病患者和基因检测机构提供基因结果解读和远程临床会诊服务，并通过“临基医动”项目在全国10余个城市推广该技术，建立了“全国神经疑难及遗传代谢性疾病诊治联盟”；（3）神经疾病精准表型和基因组学大数据库的建立：建立了基于神经系统疾病精准临床表型和基因变异的大型整合数据库和辅助临床决策系统，获得了6项软件著作权。数据库纳入了超过5000人、涵盖70余种神经疾病的临床特征、影像、超声和基因突变数据（包括一代、二代、三代基因测序结果），为揭示成人神经疾病的分子机制、提升分子诊断水平、促进精准医学发展奠定了基础；（4）神经疾病的分子机制研究：通过大规模测序，发现了帕金森病、运动神经元疾病、脑血管病、癫痫等多个疾病的新致病基因，并构建了转基因模型，阐明了一批新基因参与疾病的分子机制和调控通路；（5）神经退行性疾病代谢组学标记物发现：发现了10多种帕金森病、多系统萎缩等神经退行性疾病的新型代谢组学标记物，并获得专利，为这些疾病的早期诊断和精准诊治提供了全新的靶标。

1、ACO2调控帕金森病线粒体和自噬功能异常的新机制研究。国家自然科学基金面上项目(No. 82371259)，2024- 2027，负责人。

2、PCDHA9基因突变介导的肌萎缩侧索硬化症分子机制研究。国家自然科学基金面上项目(No. 82171412)，2022-2025，负责人。

3、柔性OLED在帕金森病早诊和辅助治疗中的应用。国家重点研发计划子课题（No.2023YFB3609104），2024-2026，394.00万元，负责人。

4、乌头酸酶ACO2调控LRRK2介导的帕金森病机制研究。国家自然科学基金面上项目(No. 81771212)，2018-2021，负责人。

5、帕金森病的发病机制与危险因素研究。国家重点研发计划项目（2016YFC1306000），国家科技部，2016.7-2020.12，子课题负责人。

6、免疫相关GTP酶-1介导的自噬调节在多发性硬化发病机制中的作用。国家自然科学基金面上项目(No. 81371320)，2014-2017，负责人。

7、帕金森病分子分型和早期预测模式的初步建立和随访验证。国家自然科学基金面上项目(No. 81271249)，2012-2013，负责人。

8、LRG-47在多发性硬化小鼠模型发病机制中的关键作用研究。国家自然基金面上项目（No. 30870885），2009-2011，负责人。

9. 老年（脊柱外科）患者围术期综合管理方案和创新技术研究。北京市属医学科学院所公益发展改革试点项目（首医研No.2019-2），2020-2022，子课题负责人。

10、气温骤降条件下急性脑血管病的发病机制和防治研究。国家科技部“十一五”科技支撑计划子课题，2008-2011，负责人。

11、帕金森病的分子分型和个体化诊疗。国家科技部“十二五”863重大项目，2012-2015，课题骨干。

12、帕金森病发病机制和诊疗技术研究。北京市卫建委重大创新项目，子课题负责人，2019.1-2020.12。

13、脑认知与脑医学-散发性帕金森病风险基因图谱与预警评估方法研究。北京脑科学研究项目，Z161100000216140, 2016/01-2018/12, 140万元，课题骨干。

14、散发性肌萎缩性侧索硬化症致病基因突变研究。福建省自然科学基金（编号: 2016J01487），2016-2019, 负责人。

15、联合应用多基因复合体和非运动症状预测帕金森病的发病风险。福建省卫生系统中青年骨干人才培养项目(No. 2013-ZQN-JC-29)，2014-2017。

16、LRG-47在多发性硬化动物模型发病机制中的关键作用研究。江西省自然科学基金，2007－2010，负责人。

17、LRG-47在自身免疫性疾病和肿瘤中的关键作用及其免疫基因治疗应用。江西省科技厅科技支撑计划项目，2007-2011，负责人。

18、假肥大型肌营养不良症的基因诊断、携带者检出和产前诊断研究。江西省卫生厅课题, 2007-2010，负责人。

19、神经系统慢性疾病易感、致病基因突变及代谢组筛查方法体系建立。合作课题(202103-202312), 60.00万元, 负责人。

20、眼动技术在神经遗传和退行性疾病早期预警和辅助中的应用研究方案，合作课题（2023.4-2025.4），30.00万元，负责人。

1.PCDHA9基因突变介导的肌萎缩侧索硬化症分子机制研究，国家自然科学基金面上项目（No.82171412）, 2022.01-2025.12，55.00万元,  负责人

2.ACO2调控帕金森病线粒体和自噬功能异常的新机制研究。国家自然科学基金委员会(No.82371259), 2024.1-2027.12, 49.00万元, 负责人。

3. 柔性OLED在帕金森病早诊和辅助治疗中的应用。国家重点研发计划子课题（No.2023YFB3609104），2024.1-2026.12，

394.00万元，负责人

4、神经遗传代谢病的基因图谱、诊疗流程及大数据开发应用。宣武医院“汇智人才”-领军培育计划(202110-202409)，60.00万元, 负责人

5、神经系统慢性疾病易感、致病基因突变及代谢组筛查方法体系建立。合作课题(202103-202312), 60.00万元, 负责人

6、眼动技术在神经遗传和退行性疾病早期预警和辅助中的应用研究方案，合作课题（2023.4-2025.4），30.00万元，负责人

科技奖励：

1. 高龄外科围手术期关键技术创新体系的建设，2021年度中国医院科技创新奖三等奖

2. 帕金森病及运动障碍性疾病的分子诊断和功能影像研究，2016年度中华医学科技奖二等奖

3.  帕金森病的发病机制、预警和干预研究，2015年度北京市科学技术奖一等奖

4. 多发性硬化的临床和遗传学研究与应用，2011年度江西省科技进步三等奖

5. 免疫相关GTP酶家族成员IRGM1在多发性硬化及脑血管疾病中的多重调节机制，2014年度福建三明市科技进步一等奖

发明专利：

1、帕金森病代谢组学标志物及其应用。发明人：王朝东，李旭颖，李娴。发明专利，专利号：ZL2022 1 0274266.X。

2、神经疾病辅助诊疗决策系统(IOS版)v1.0。著作权人：王朝东。证书号：软著登字第2417426号。

3、神经专科体检辅助系统。著作权人：王朝东。证书号：软著登字第2055493号

4、神经科专家助手（NeuroAid）平台。著作权人：王朝东。证书号：软著登字第2707111号。

5. 帕金森病精准表型采集分析系统v2.0。著作权人：王朝东。证书号：软著登字第2021SR0493259号。

6. 运动神经元病的表型采集分析系统 v1.0。著作权人：王朝东。证书号：软著登字第2021SR0433137号。

7. 癫痫的表型采集分析系统 v1.0。著作权人：王朝东。证书号：软著登字第2021SR0433140号。

1.    Li Y*, Ying Y*, Yao T*, Jia X,Liang H, Tang W, Jia X, Song H, Shao X, Wang DJJ, Wang C#, Cheng X#, Yang Q#.Decreased water exchange rate across blood-brain barrier in hereditary cerebralsmall vessel disease. Brain. 2023:146; 3079–3087. #Co-correspondingauthor.

2.    Xiao W, Yang S, Feng S, Wang C,Huang H, Wang C, Zhong C,Zhan S, Yao D, Wang T. Risk factors for postoperative acute ischemic stroke inadvanced-aged patients with previous stroke undergoing noncardiac surgery: Aretrospective cohort study. BMC Surgery,2023, Aug 29; 23(1):258.

3.    Zhang L*, Li XY*,Xu F*, Gao L, Wang Z, Wang X, Li X, Liu M, Zhu J, Yao T, Ye J, Qi XH,Wang Y, Zhao G#, Wang C#;Xuanwu Molecular Counselling Group for Neurogenetic Diseases. Multidisciplinarymolecular consultation increases the diagnosis of pediatric epilepticencephalopathy and neurodevelopmental disorders. Mol Genet Genomic Med. 2023 Jul 24; e2243. #Co-corresponding author.

4.    Si L, Wang Z, Li XY, Song Y, YaoT, Xu E, Wang X, Wang C.Novel mutations and molecular pathways identified in patients with brain ironaccumulation disorders. Neurogenetics, 2023,Jul 15. doi: 10.1007/s10048-023-00725-9.

5.    Li W, Luo J, Peng F, Liu R, Bai X,Wang T, Zhang X, Zhu J, Li XY, Wang Z, Liu W, Wang J, Zhang L, Chen X, Xue T,Ding C, Wang C#,Jiao L#. Metabolomics identifies lipid profiles of human carotidatherosclerosis. Atherosclerosis. 2023Jan; 364:20-28. #Co-correspondingauthor.

6.     Pan H, Liu Z, Ma J, …, Wang C, …Yang J, Tang B. Genome-wide association study usingwhole-genome sequencing identifies risk loci for Parkinson's disease in Chinesepopulation. NPJ Parkinsons Dis. 2023Feb 9;9(1):22.

7.    Yao T, Zhu J, Wu X, Li X, Fu Y,Wang Y, Wang Z, Xu F, Lai H, He A, Teng L#, Wang C#, Song H#. Heterozygous HTRA1Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, andPathologic Findings From 3 Chinese Pedigrees. Neurol Genet, 2022 Dec 5;8(6):e200044. #Co-corresponding author.

8.     Sun Q, Liu Y, Li S, Wang C. Automatic Epileptic Seizure Detection UsingPSO-Based Feature Selection and Multilevel Spectral Analysis for EEG Signals. Journal of Sensors, Volume 2022,Article ID 6585800: 1-16.

9.    Xu F, Huang S, Li XY, Lin J, FengX, Xie S, Wang Z, Li X, Zhu J, Lai H, Xu Y, Huang X, Yao X# and Wang C#.Identification of TARDBP Gly298Ser as a founder mutation foramyotrophic lateral sclerosis in Southern China. BMC Medical Genomics, 2022, 15:173.

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10.  Kong C, Zhang Y, Wang C,Wang P, Li X, Wang W, Wang Y, Shen J, Ren X, Wang T, Zhao G, Lu S.Comprehensive geriatric assessment for older orthopedic patients and analysisof risk factors for postoperative complications. BMC Geriatr. 2022 Aug 4;22(1):644.

Lai H, Li XY, Hu J, Li W, Xu F, Zhu J, He R, Weng H, Chen L, Yu J, Li X,Song Y, Wang X, Wang Z, Li W, Kang R, Li Y, Xu J, Deng Y#, Ye Q#,Wang C#. Developmentand validation of a predictive nomogram for possible REM sleep behaviordisorders. Frontiers in Neurology, 2022Jun 29;13:903721. #Co-correspondingauthor.

11. Yao T, Qiao H, Sun J, Li X, Song Y,Xu F, Gao L, Zhang D, Yan Z, Ye C, Lai H, Liang Z*, Wu T#, Wang C#.Clinical and preclinical neuroimaging changes in spinocerebellar ataxia type 12-astudy of three Chinese pedigrees. EuropeanNeurology, 2022, Jul 19:1-11. #Co-correspondingauthor.

12.  Li W, HuJ, Li X, Lu Z, Li X, Wang C#and Yu S#.Receptor-Dependent Endocytosis Mediates a-Synuclein Oligomer Transport Into RedBlood Cells. Frontiers in AgingNeuroscience. 2022 May 20;14:899892. #Co-Corresponding author.

13.   Zhu J, Xu F, Wang C#,Li XY, Zhao G#. A novelloss-of-function compound heterozygous mutation of MYORG causes idiopathicbasal ganglia calcification 7. ParkinsonismRelat Disord. 2022 Mar 21;97:65-67. #Co-Corresponding author.

14.  Ma R, Ye J, Han J, Gao L#,Wang C#, Wang Y#. Case Report: A NovelMissense Mutation c.517G>C in the UMPS Gene Associated With Mild OroticAciduria. Front Neurol. 2022 Mar9;13:819116. #Co-Corresponding author.

15.   Li W, Wang T, Zhang X, Zhu J, Li XY,Peng F, Dai J, Wang J，Zhang L, Wang Y, Chen X, Xue T, Ding C#, Wang C#, Jiao L#. Distinct lipid profiles of radiation-induced carotidplaques from atherosclerotic carotid plaques revealed by UPLC-QTOF-MS andDESI-MSI. Radiotherapy and Oncology. 2022Feb;167:25-33. #Co-Corresponding author.

16.  Ma R, Duan Y, Zhang L, Qi X, Zhang L, Pan S, Gao L#, Wang C#, Wang Y#.  SCN1A-Related Epilepsy: Novel Mutations andRare Phenotypes. Front Mol Neurosci.2022 May 19 ;15:826183. #Co-Correspondingauthor.

17.  Wang X, Li XY, Piao Y,Yuan G, Lin Y, Chen H, Wang Z, Li C, Wang C*. Hartnup diseasepresenting as hereditary spastic paraplegia and severe peripheral neuropathy. Am J Med Genet A. 2022Jan;188(1):237-242. *Corresponding author.

18.  Li W, Hu J, Li X, Lu Z, LiX, Wang C#, Yu S#. Receptor-DependentEndocytosis Mediates α-Synuclein Oligomer Transport Into Red Blood Cells. FrontAging Neurosci. 2022 May 20;14:899892. #Co-Corresponding author.

19.  Lin F, Lin W, Zhu C, LinJ, Zhu J, Li XY, Wang Z, Wang C, Huang H. Sequencing ofneurofilament genes identified NEFH Ser787Arg as a novel risk variant ofsporadic amyotrophic lateral sclerosis in Chinese subjects. BMC MedGenomics. 2021;14(1):222.

20.  Dong Y, Li XY, Wanga XL,Xu F, Wang ZJ, Song Y, Li Q, Lin R, Wang C#. Genetic,clinical and neuroimaging profiles of sporadic and autosomal recessivehereditary spastic paraplegia cases in Chinese. Neuroscience Letters, 2021, Jul10;761:136108.

21.  Wang Z, Wu H，Piao Y，Wang C#.Cervical cord hemorrhage in cerebral cavernous malformations. Journal ofClinical Neurology, 2021;17:576-578.

22.  Wang Z, Song Y, Wang X, LiX, Xu F, Si L, Dong Y, Yao T, Zhu J, Lai H, Li W, Lin F, Huang H, Wang C#.Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novelmutations in SACS gene: A report of two Chinese families. NeuroscienceLetters. 2021;752:135831.

23.  Wang Z, Song Y, Zhu W,Wang X, Li X, Xu F, Si L, Yao T, Zhu J, Lai H, Li W, Lin F, Wang C#. A novel FBXO7-R345P mutation in a Chinese family with autosomalrecessive parkinsonian-pyramidal syndrome. Parkinsonism and RelatedDisorders, 2021, 88:62–67. *Corresponding author.

24.  Liu L, Cui B, Chu M, CuiY, Jing DL, Li D, Xie K, Kong Y, Xia T, Wang C#, Wu L#. The frequency of genetic mutationsassociated with behavioral 2 variant frontotemporal dementia in Chinese Hanpatients. Frontiers in Aging Neuroscience, 2021, Jul 8;13:699836. #Co-Correspondingauthor.

25.  Chu M, Wang DX, Cui Y,Kong Y, Liu L, Xie KX, Xia TX, Zhang J, Gao R, Zhou AH, Wang CD, WuL. Three novel mutations in Chinese patients with CSF1R-relatedleukoencephalopathy. Annals of Translational Medicine, 2021,9(13):1072.

26.  Li XY, Cui Y, Jing D, XieK, Zhong X, Kong Y, Wang Y, Chu M, Wang C, Wu L. Novel PSEN1 andPSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease andPosterior Cortical Atrophy. Alzheimer Dis Assoc Disord, 2021;35:208-213.  

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31.  ZhangY, Ma L, Wang T, Xiao W, Lu S, Kong C, Wang C, LiX, Li Y, Yin C, Yan S, Li Y, Yang K, Chan P. APPLE-MDT Study Working Group. Protocol for evaluation ofperioperative risk in patients aged over 75 years: Aged Patient PerioperativeLongitudinal Evaluation-Multidisciplinary Trial (APPLE-MDT study). BMC Geriatrics. 2021 Jan 6;21(1):14. doi:10.1186/s12877-020-01956-3.

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