Professor LAM Ching Wan

Professor LAM Ching Wan

Specialist in Pathology, Hong Kong Medical Council
Diplomate of the American Board of Toxicology (DABT)
Clinical Professor of Practice

Clinical, Educational, and Professional Service
  • Director (Chemical Pathology), University Pathology Laboratory (UPL)
  • Editor, Clinica Chimica Acta

Research Description

The elucidation of the molecular basis of inherited human diseases through the identification of disease-causing genes.


PrimeIndel: Four-prime-number genetic code for indel decryption and sequence read alignment.

Clin Chim Acta. 2014 Apr 24. pii: S0009-8981(14)00161-2. doi: 10.1016/j.cca.2014.04.006. [Epub ahead of print].

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Omictools :

Research Fund

General Research Fund (GRF) "Regulatory signatures of two novel prognostic metabotypes of lung adenocarcinomas: integrated analysis of transcriptomics and metabonomics of malignant pleural effusions"
RGC General Research Fund - "Identifying the disease gene for a new locus of congenital myasthenic syndrome"

International Media Interview

《結節性硬化症》, 至FIT男女, 有線電視, 2020-04-18 (here)

《研細胞缺氧助治癌 3學者奪醫學諾獎》, 晴報, 2019-08-10 (here)

《實驗室先鋒》, 瑪麗通訊, 2019-08-15 (here)

《黑斑瘜肉症候群》, 至FIT男女, 2019-08-09 (here)

《以千分一資金做實驗 港大教授林青雲為罕見病絞腦汁》, 信報, 2019-05-08 (here)

《驗幼童基因知天賦 基因專家: 難以置信》, 晴報, 2019-04-23 (here)

《政府反對張超雄〈罕見病條例草案〉》, 自由風自由 PHONE, 香港電台, 2019-03-14 (here)

《政策法規落後 病人飽受折磨 罕見病其實有得醫》, 堅料網, 2019-04-18 (here)

《怪病纏身原因不明 兄妹慘被折磨20年》, 堅料網, 2019-04-18 (here)

《幫助病患者? 滅絶罕見病? 林青雲教授﹕道德爭議極大》, 堅料網, 2019-04-18 (here)

《助2萬罕見病癌症患者測序 港府12億設基因組公司》, 明報, 2019-01-16 (here)

《驗基因測孩子天賦 專家稱不準 收費4萬 公司回應準確度: 先天後天五十五十》, 明報, 2019-01-06 (here)

《基因治療》, 精靈一點, 香港電台, 2019-01-04 (here)

《基因編輯》(電話訪問), 至fit男女, 有線電視, 2018-12-02

《香港醫學專科學院25周年專題系列: 罕見病及奇難診斷》, 精靈一點, 香港電台, 2018-11-12 (here)

《醫護支持擴大新生兒篩查 有效診斷及治療先天性代謝病》, 成報, 2018-07-14

《破解罕見病 》, 至fit男女, 有線電視, 2018-05-17 (here)

《時事多面睇 》 , 無線電視, 2018-04-03

《先天性代謝病 》, 至fit男女, 有線電視, 2018-01-22 (here)

《【罕見病・一】基因獵人22年前洋專家拒幫 遂自學: 唔教咪自己搞》, HK01, 2017-06-23 (here)

《罕見病》, 杏林在線, Now新聞台, 2017-06-03 (here)

《貴價新藥可縮腎瘤增生存率缺實證》, 明報, 2017-05-03 (here)

《與別不童: 患雷特氏症半歲開始發育倒退 堅毅父伴女邁十步奇蹟》, 明報, 2016-11-22 (here)

《孩子患罕見基因病 全球僅三例 苦難媽媽一世打仗》, 蘋果日報, 2016-05-08 (here)

《兒童罕見病發現及治療 港大教授主講》, 成報, 2016-03-12

《罕見病看到希望》, E週刊, 2016-03-10

《【罕見疾病系列(一)】母子兵奮戰沒名字的病魔》, HK01, 2016-02-27 (here)

《醫健寶庫: 患罕見病 港年45宗新症》, 東方日報, 2016-02-13 (here)

《遺傳病好爸爸求捐肝 昏迷甦醒尋妻: 驚你唔要我》, 明報, 2015-11-06 (here)

《天使的微笑》, 星期五檔案, 無線電視, 2015-09-25 (here)

《磁力共振透視尿液檢查先天性缺憾疾病》, 健康大道,  香港電台電視部, 2015-08-31 (here)

《孖仔獲飛躍獎學金讀醫 從沒報興趣班 立志貢獻公院》, 新報, 2015-06-29

“Not as rare as you thought”, China Daily Hong Kong Edition, 2015-04-01 (here)

《「高人病」6 呎男打籃球撕心 罕見病患者結盟喚社會政府關注》, 明報, 2015-02-28 (here)

《美國權威醫學期刊報告: 全效牙膏含三氯沙 高露潔或致肝癌》, 蘋果日報, 2015-01-03 (here)

“The Lonely Struggle For Recognition”, CUHK Varsity, 2014-12-10 (here)

《你是我的夢想》, 窗外有藍天, 香港電台電視部, 2014-12-06 (here)

《快速透視100種代謝病 尿液磁力共振 15分鐘救一命》, 明報, 2014-11-24 (here)

《罕有病: 一個都不能少》, 鏗鏘集, 香港電台電視部, 2014-10-20 (here)

《愛笑的天使: 有關罕見病患者》, 創世電視台, 2014-09-02

《這幾滴血》, 星期二檔案, 無線電視, 2014-02-25 (here) (here)


Professor Lam obtained his MBChB from The Chinese University of Hong Kong in 1991 and FRCPA in 1997 from The Royal College of Pathologists of Australasia with a double scope of practice in Chemical Pathology and Genetics. He obtained his PhD in 2000 from The Chinese University of Hong Kong. He obtained FRCP(Glas) from The Royal College of Physicians and Surgeons of Glasgow in 2012.

Professor Ching-Wan Lam is a chemical pathologist with 30 years experiences in inherited metabolic disease and has 200 publications on this subject. His research interests include various aspects of inherited metabolic diseases and genetic testing. For example, he identified the MECP2 gene, the first disease gene for non-syndromic infantile autism. The locus is called AUTSX3 (AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3; MIM ID #300496). This work has been incorporated in the formulation of an international guideline for etiologic diagnosis of autism, i.e., The American College of Medical Genetics 2013 clinical practice guideline.

He identified the SMOOTHENED gene to be the driver gene in sporadic medulloblastomas. This work has provided important leads for development of SMOOTHENED inhibitors.  He also identified a new pharmacogenetic disease in which valproate, a first-line anti-epilepsy drug, can trigger onset of Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episodes (MELAS). This work has led to a change in clinical practice that valproate is now contraindicated to patients with mitochondrial DNA disease. Professor Ching-Wan Lam is an Editor of Clinical Chimica Acta.

Awards and Honors
  • Examination Prize, MAACB
  • Clinical Chemists Recognition Award, AACC
  • Most Outstanding Teacher Award
  • Fellowship, The Croucher Foundation
  • The Roche Diagnostics Australia Award

Selected Publications

Researcher Profile on HKU Scholars Hub

  • Lam CW, Fong NC, Chan TY, Lau KC, Ling TK, Mak DW, Cheng X, Law CY. Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies. Clin Chim Acta. 2020;504:81-87.

  • Lam CW, Yeung WL, Ling TK, Wong KC, Law CY. Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome. Clin Chim Acta. 2019;496:93-99.
  • Lam KO, Tong CC, Lee VHF, Luk MY, Lam CW. DPYD genotype-guided dose individualisation of fluoropyrimidine therapy: who and how? Lancet Oncol. 2019 Feb;20(2):e66.
  • Mak CM, Law EC, Lee HH, Siu WK, Chow KM, Au Yeung SK, Ngan HY, Tse NK, Kwong NS, Chan GC, Lee KW, Chan WP, Wong SF, Tang MH, Kan AS, Hui AP, So PL, Shek CC, Lee RS, Wong KY, Yau EK, Poon KH, Siu S, Poon GW, Kwok AM, Ng JW, Yim VC, Ma GG, Chu CH, Tong TY, Chong YK, Chen SP, Ching CK, Chan AO, Tam S, Lau RL, Ng WF, Lee KC, Chan AY, Lam CW. The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong. Hong Kong Med J. 2018;24:226-237.
  • Lam CW, Yeung WL, Law CY. Global developmental delay and intellectual disability associated with a de novo TOP2B mutation. Clin Chim Acta. 2017;469:63-68.
  • Lam CW, Wong KS, Leung HW, Law CY. Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations. Eur J Hum Genet. 2017;25:192-199.
  • Harris IS, Treloar AE, Inoue S, Sasaki M, Gorrini C, Lee KC, Yung KY, Brenner D, Knobbe-Thomsen CB, Cox MA, Elia A, Berger T, Cescon DW, Adeoye A, Brüstle A, Molyneux SD, Mason JM, Li WY, Yamamoto K, Wakeham A, Berman HK, Khokha R, Done SJ, Kavanagh TJ, Lam CW, Mak TW. Glutathione and thioredoxin antioxidant pathways synergize to drive cancer initiation and progression. Cancer Cell. 2015;27:211-22.
  • Lam CW, Law CY. Untargeted mass spectrometry-based metabolomic profiling of pleural effusions: Fatty acids as novel cancer biomarkers for malignant pleural effusions. J Proteome Res. 2014;13:4040-6.
  • Lam CW, Law CY. Pleural effusion lipoproteins measured by NMR spectroscopy for diagnosis of exudative pleural effusions: a novel tool for pore-size estimation. J Proteome Res. 2014;13:4104-12.
  • Qian M, Wu D, Wang E, Marincola FM, Wang W, Rhodes W, Liebman M, Bai C, Lam CW, Marko-Varga G, Fehniger TE, Andersson R, Wang X. Development and promotion in translational medicine: perspectives from 2012 sino-american symposium on clinical and translational medicine. Clin Transl Med 2012; 1:25.
  • Lam CW, Yeung WL, Ko CH, Poon PM, Tong SF, Chan KY, Lo IF, Chan LY, Hui J, Wong V, Pang CP, Lo YM, Fok TF. Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. J Med Genet 2000;37:E41.
  • Lam CW, Xie J, To KF, Ng HK, Lee KC, Yuen NWF, Lim PL, Chan YS, Tong SF, McCormick F. A frequent activated smoothened mutation in sporadic basal cell carcinomas. Oncogene 1999; 18: 833-6.
  • Lam CW, Lau CH, Williams JC, Chan YW, Wong LJC. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. Eur J Ped 1997; 156: 562-4.