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现任北京儿童医院副院长、北京市儿科研究所副所长、国家儿童医学中心罕见病中心副主任、儿科重大疾病研究教育部重点实验室主任、出生缺陷遗传学研究北京市重点实验室主任。1997年获中山医科大学医学遗传学博士学位，2004年获美国纽约州立大学布法罗分校生物信息学硕士学位。1999-2004年在美国Roswell Park肿瘤研究所从事博士后研究。2005年入选中国科学院“百人计划”。2005年获国家杰出青年科学基金。2009年入选人社部新世纪百千万人才工程国家级人选。现担任中国医促会出生缺陷精准医学分会副主委兼秘书长、中华医学会医学遗传学分会委员、中国遗传学会理事、中国细胞生物学会常务理事兼细胞器生物学分会副会长、中国生物物理学会常务理事兼膜生物学分会副理事长、Bioscience Reports副主编，Frontiers in Cell & Developmental Biology膜运输领域副主编等。长期从事遗传病诊断、遗传咨询和产前诊断工作，主要研究囊泡运输障碍导致白化病等遗传代谢疾病的发病机制。在Nature Genetics, Blood, eLife, Autophagy, Journal of Cell Biology, PLoS Genetics等杂志发表SCI论文112篇（总IF约890，被引用7600余次）。主编或副主编《医学遗传学（第3版）》、《遗传咨询》、《生物信息学导论》、《产前遗传病诊断》等专著。主持中国遗传咨询网(http://gcnet.gene-qa.cn/)的科普和在线遗传咨询。获2020年“敬佑生命•荣耀医者”第五届公益活动“科普影响力奖”。详情请参考实验室主页(http://www.genelab-bch.com.cn/)。
医学遗传中心成立于2014年，2019年初更名为出生缺陷遗传学研究室，学术带头人为李巍教授。主要致力于儿童遗传性疾病的致病基因鉴定和发病机制研究，并综合利用细胞遗传学、分子遗传学、基因组学、生物信息学等先进技术手段进行遗传性疾病的基因诊断和遗传咨询。目前，出生缺陷遗传学研究室共有工作人员19人，其中研究员4名，副研究员5名，助理研究员7名，博士后1名，技术人员2名; 学历构成包括博士学历17名，本科学历2名。现有博士生导师2名，硕士生导师1名。
研究方向：
1. 溶酶体运输障碍性疾病的遗传学及分子细胞机制
溶酶体运输(lysosomal trafficking)是指从内吞体到溶酶体的运输过程。溶酶体运输发挥着非常重要的细胞功能。它与细胞的胞吞和胞吐、信号转导及溶酶体相关细胞器的发生都有非常重要的关系。当溶酶体运输发生障碍时，会导致许多不同的疾病。本研究团队主要利用小鼠模型研究溶酶体相关细胞器发生的分子细胞生物学机制，并综合利用细胞生物学、分子生物学、生物化学、遗传学、基因组学等先进技术手段阐明溶酶体运输障碍性疾病如代谢性疾病、神经精神疾病、发育缺陷的发生机制。
2. 单基因遗传病的致病基因鉴定及生物学功能研究
近年来儿童遗传代谢病发病率呈逐年上升趋势，且病因大多未明。研究儿童遗传代谢病发病机制，提高儿童遗传代谢病诊疗和预防水平，对于优生优育和我国人口出生素质的提高意义重大。本研究团队针对严重致畸、致残、致愚、致死性单基因遗传病，综合利用遗传学、基因组学、生物信息学等手段解析遗传性疾病的致病基因，并利用模式生物从分子和细胞水平阐明单基因遗传病的发生机理。
1.The role of dysbindin in schizophrenia. Supported by grants from Chinese Academy of Sciences (CAS), 2005-2008.
2.Systems biology of intracellular vesicle trafficking. Supported by Distinguished Young Scholars Fund from National Natural Science Foundation of China (NSFC), 2006-2009.
3.Regulatory mechanism of the SLC7A11 gene in oxidative stress and hypoxia. Supported by National Basic Research Program (973 Program) from Ministry of Science and Technology (MOST), 2006-2010.
4.Dissecting the endosomal trafficking pathways by using HPS mouse mutants. Supported by Key Project from National Natural Science Foundation of China (NSFC), 2008-2011.
5.Modulation of signal transduction in neural crest cell specification and differentiation. Supported by Key Project from Chinese Academy of Sciences (CAS), 2013-2015.
6.Lysosomal trafficking pathways in regulating LRO biogenesis and signal transduction. Supported by Key Project from National Natural Science Foundation of China (NSFC), 2013-2017.
7.Regulatory mechanism of the SLC35D3 gene in basal ganglion. Supported by National Basic Research Program (973 Program) from Ministry of Science and Technology (MOST), 2013-2017.
8.Lysosome-related organelles in regulating vascular homeostasis. Supported by Key Project from National Natural Science Foundation of China (NSFC), 2016-2019.
9.High-throughput neonatal screening of inherited disorders in China. Supported by Key Research and Development Project from Ministry of Science and Technology (MOST), 2016-2021.
10.Mitochondria regulate the biogenesis of lysosome-related organelles. Supported by Key Project from National Natural Science Foundation of China (NSFC), 2019-2023.
| 2019/01-2023/12 | 线粒体调控溶酶体相关细胞器钙稳态的分子机器（31830054） | 国家基金委重点项目 | 负责人 |
| 2020/01-2024/12 | 代谢性细胞器调控异常与发育相关疾病发生的机制（2019YFA0802104） | 科技部重点研发计划 | 课题四技术骨干 |
(2022)
1. Wang JL#, Gong JJ#, WangQC, Tang TS, Li W*. VDAC1 negatively regulates melanogenesis through theCa2+-calcineurin-CRTC1-MITF pathway. Life Sci Alliance, 2022; 5(10):e202101350. [Abstract]
2. Hao CY#, Jin F#, Hao CJ,Zhang XF, Xie LM, Zhang YW, Liu XS*, Ni X*, Li W*. Evaluation of the effects onuninfected pregnant women and their pregnancy outcomes during the pandemicCOVID-19 in Beijing, China. Front Med, 2022; 9: 842826. [Abstract]
3. Huang QR#, Yuan YF#,Gong JJ, Zhang TJ, Zhang BB, Qi Z, Yang XM, Li W*, Wei AH*. Identification of anovel MLPH missense mutation in a Chinese Griscelli syndrome 3 patient. FrontMed, 2022; 9: 896943. [Abstract]
4. Xu WJ#, He HC#, Guo ZG*,Li W*. Evaluation of machine learning models on protein level inference fromprioritized RNA features. Brief Bioinform, 2022; 23: bbac091. [Abstract]
5. Li W*, Hao CJ, Hao ZH,Ma J, Wang QC, Yuan YF, Gong JJ, Chen YY, Yu JY, Wei AH*. New insights into thepathogenesis of Hermansky-Pudlak syndrome. Pigment Cell Melanoma Res, 2022;35(3): 290-302. [Abstract]
6. Xiao X#, Feng GS#, ZhangYW, Liu YH, Xiang L, Yang Y, Sun H, Geng R, Liu XS, Zhang XF, Jin F, Hao CJ,Zhang YM, Zhang J, Tang LX, Wang PP, Yang XJ, Zhang W, Han Y, Ge WT*, Li W*, NiX*. Young Children Allergic Rhinitis Questionnaire is a novel tool for allergyscreening in children. Pediatr Allergy Immunol, 2022; 33(2): e13738. [Abstract]
7. Mi X#, Lin SQ#, ZhangXF#, Li JJ, Pei LJ*, Jin F, Liao Q, Xie LM, Wei LC, Hao CJ, Zhang YW, Li W*.Maternal per-fluorinated compounds exposure and the risk of early pregnancyloss: A nested case-control study. Biomed Environ Sci, 2022; 35(2): 174-183.[Abstract]
8. Lu JR#, Ma J#, Hao ZH,Li W*. HPS6 regulates the biogenesis of Weibel-Palade body in endothelial cellsthrough trafficking v-ATPase to its limiting membrane. Front Cell Dev Biol,2022; 9:743124. [Abstract]
9. Wei A#, Zhang T#, YuanY, Qi Z, Bai D, Zhang Y, Zhang Y, Liu T, Huang Q, Yang X, Li W*. Spectrumanalysis of albinism genes in a large cohort of Chinese index patients. JInvest Dermatol, 2022; 142(6): 1752-1755.e3. [Abstract]
10. Hao CJ# *, Guo RL#, HuXY#, Qi Z, Guo Q, Liu XS, Liu YH, Sun YH, Zhang XF, Jin F, Wu XJ, Cai R, ZengDY, Hu XJ, Wang XH, Ji XP, Li WJ, Xing QS, Mu LF, Jiang XL, Yang X, Yang WM,Zhang Y, Yin QL, Ni X*, Li W*. Newborn screening with targeted sequencing: Amulti-center investigation and a pilot clinical study in China. J GenetGenomics, 2022; 49(1): 13-19.[Abstract] (Cover Story)
(2021)
11. Liu YC#, Hao CJ#, Li KC,Hu XY, Gao HM, Zeng JS, Guo RL, Liu J, Guo J, Li Z, Qi Z, Jia XL, Li W*, QianSY*. Clinical application of exome sequencing for monogenic disorders in PICUof China. Front Genet, 2021; 12: 677699.[Abstract]
12. Zhang Y, Liu XS, Guo RL,Xu WJ, Guo Q, Hao CJ, Ni X*, Li W*. Biological implications of geneticvariations in autism spectrum disorders from genomics studies. Biosci Rep,2021; 41(7): BSR20210593. [Abstract]
13. Hao C# *, Guo R#, Liu J,Hu X, Guo J, Yao Y, Zhao Z, Qi Z, Yin J, Chen L, Wang H, Xu BP*, Li W*. Exomesequencing as the first-tier test for pediatric respiratory diseases: asingle-center study. Hum Mutat, 2021; 42(7): 891-900. [Abstract]
14. Li HM#, Guo J#, Jia YT,Kong W, Li W*. LOXL4 abrogation does not exaggerate angiotensin II-inducedthoracic or abdominal aortic aneurysm in mice. Genes, 2021; 12(4): 513.[Abstract]
15. Yuan YF, Liu T, Huang XH,Chen YY, Zhang WL, Li T, Yang L, Chen Q, Wang YC, Wei AH, Li W*. A zinctransporter, transmembrane protein 163, is critical for the biogenesis ofplatelet dense granules. Blood, 2021; 137(13): 1804-1817. [Abstract] (CoverStory & Commentary)
16. Liu T#, Yuan YF#, BaiDY#, Zhang TJ, Huang QR, Qi Z, Yang L, Yang XM, Li W*, Wei AH*. The firstHermansky–Pudlak syndrome type 9 patient with two novel variants in Chinesepopulation. J Dermatol, 2021; 48(5):676-680. [Abstract]
17. Xiao H, Guo X, Hu B, LiuJ, Zhao S, Xu Z, Zhang N, He L, Liu Y, Liu L, Li S, Li W*, Liu G*. Generalizedpustular psoriasis in patients with interferon gamma (IFN-γ) receptordeficiency. J Clin Immunol, 2021; 41(4): 829-833. [Abstract]
18. Liu T#, Yuan YF#, Bai DY,Qi Z, Yang L, Zhang TJ, Yang XM, Li W*, Wei AH*. Genetic variants and mutationalspectrum of Chinese Hermansky-Pudlak syndrome patients. Pigment Cell MelanomaRes, 2021; 34(1): 111-121. [Abstract]
(2020)
19. Zhang C, Hao CJ, ShuiGH*, Li W*. BLOS1 mediates kinesin switch during endosomal recycling of LDLreceptor. Elife, 2020; 9: e58069. [Abstract]
20. Liu X, Xu W, Leng F, HaoC, Kolora SRR, Li W*. Prioritizing long range interactions in noncoding regionsusing GWAS and deletions perturbed TADs. Comput Struct Biotechnol J, 2020; 18:2945-2952. [Abstract]
21. Yu JY, He X, Wei AH, Liu T,Zhang Q, Pan Y, Hao ZH, Yang L, Yuan YF, Zhang Z, Zhang C, Hao CJ, Liu ZH*, LiW*. HPS1 regulates the maturation of large dense core vesicles and lysozymesecretion in Panneth cells. Front Immunol, 2020; 11: 560110. [Abstract]
22. Xu F, Qi H, Li JQ, Sun L,Gong JJ, Chen YY, Shen AD*, Li W*. Mycobacterium tuberculosis infectionupregulates MFN2 expression to promote NLRP3 inflammasome formation. J BiolChem, 2020; 295(51): 17684-17697. [Abstract]
23. Li XR#, Hao ZH#, Liu XR*,Li W*. Deficiency of mouse FHR-1 homolog, FHR-E, accelerates sepsis, and acutekidney injury through enhancing the LPS-induced alternative complement pathway.Front Immunol, 2020; 11: 1123. [Abstract]
24. Liu G#*, Xiao HJ#, LiuLL, Guo LY, Guo RL, Hu XY, Hao CJ, Gui JG, Jiao WW, Xu F, Shen AD, Li W*.Severe cases of BCGosis-susceptible PID identified by next-generationsequencing: implications for adjustment of BCG vaccination timing in China. JGenet Genomics, 2020; 47(4): 229-232. [Abstract]
25. Xu WJ, Leng F, Liu XS, LiW*. Blood-based multi-tissue gene expression inference with Bayesian ridgeregression. Bioinformatics, 2020; 36(12): 3788-3794. [Abstract]
(2019)
26. Fang BL#, Guo J#, Hao CJ,Guo RL, Qian SY, Li W*, Jia XL*. Whole-exome sequencing identifies a novelcompound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisispatient. Clin Chim Acta, 2019; 501: 131-135. [Abstract]
27. Zhang YL, Zhang YZ, LiuT, Bai DY, Yang XM, Li W*, Wei AH*. Identification of two Chinese OCA6 patientsand mutation updates of the SLC24A5 gene. J Dermatol, 2019; 46(11):1027-1030.[Abstract]
28. Zhang Z, Gong JJ,Sviderskaya EV, Wei AH*, Li W*. Mitochondrial NCKX5 regulates melanosomalbiogenesis and pigment production. J Cell Sci, 2019; 132(14): jcs232009.[Abstract]
29. Ma J#, Wang R#, Lam SM,Zhang C, Shui G*, Li W*. Plasma lipidomic profiling in murine mutants ofHermansky-Pudlak syndrome reveals differential changes in pro- andanti-atherosclerosis lipids. Biosci Rep, 2019; 39(2): BSR20182339. [Abstract]
30. Wei AH#*, Yuan YF#(#co-first authors), Qi Z, Liu T, Bai DY, Zhang YZ, Yu JY, Yang L, Yang XM, LiW*. Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlaksyndrome. Pigment Cell Melanoma Res, 2019; 32(3):373-380. [Abstract]
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