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LAM Ching Wan (Chemical Pathology)
Specialist in Pathology, Hong Kong Medical Council
Diplomate of the American Board of Toxicology (DABT)

Clinical, Educational, and Professional Service

Research Description


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].

PrimeIndel Version 1.0 can be downloaded here or
PrimeIndel Version 2.0:

Research Fund

General Research Fund (GRF) Project Number : 17114016 Exercise Year : 2016 / 17 Project Title : Regulatory signatures of two novel prognostic metabotypes of lung adenocarcinomas: integrated analysis of transcriptomics and metabonomics of malignant pleural effusions PI Name : Prof Lam, Ching Wan Institution : The University of Hong Kong

RGC General Research Fund - "Identifying the disease gene for a new locus of congenital myasthenic syndrome"

International Media Interview

Interviewed by Russia Today on the Fukushima crisis can be viewed here

星期二檔案 2014 February 25 這幾滴血 interview here and here

星期五檔案 2015 September 25 天使的微笑 interview [4:27] here

香港電台 「精靈一點」 2014 April 15 二代新生嬰兒篩檢 先導研究計劃 interview here

香港電台 「健康大道」 2015 August 31 磁力共振透視尿液檢查先天性缺憾疾病 interview [From 44:23] here

「育醫造才:探索醫學世界」公開講座 2016 March 12 兒童罕見病的發現及治療 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 is a Fellow of The Australasian Association of Clinical Bicohemists. 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 20 years experiences in inherited metabolic disease and has over 160 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 inhibitor Vismodegibs.  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 lead to a change in clinical practice that valproate is now contraindicated to patients with mitochondrial DNA disease by Food and Drug Administration (FDA),The United States of America (

Professor Ching-Wan Lam is The Editor, Clinical Chimica Acta, an official journal of The International Federation of Clinical Chemistry and Laboratory Medicine.

Awards and Honors

Selected Publications

Researcher Profile on HKU Scholars Hub

Siu WK, Lam CW, Gao WW, Tang VH, Jin DY, Mak CM. Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism. Behav Brain Res. 2015 Oct 27. pii: S0166-4328(15)30255-2. doi: 10.1016/j.bbr.2015.10.041. [Epub ahead of print]

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 JK, Khokha R, Done SJ, Kavanagh TJ, Lam CW, Mak TW. Glutathione and Thioredoxin Antioxidant Pathways Synergize to Drive Cancer Initiation and Progression. Cancer Cell   (Available online 22 January 2015) doi:10.1016/j.ccell.2014.11.019

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.

Lam CW (first and corresponding author), Mak CM. Allele dropout caused by a non-primer-site SNV affecting PCR amplification--a call for next-generation primer design algorithm. Clin Chim Acta. 2013; 421:208-12.

Wu JL, Leung KF, Tong SF, Lam CW (corresponding author). Organochlorine isotopic pattern-enhanced detection and quantification of triclosan and its metabolites in human serum by ultra-high-performance liquid chromatography/quadrupole time-of-flight/mass spectrometry. Rapid Commun Mass Spectrom 2012; 26:123-32.

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 (first and corresponding author), Lan L, Che X, Tam S, Wong SS, Chen Y, Jin J, Tao SH, Tang XM, Yuen KY, Tam PK. Diagnosis and spectrum of melamine-related renal disease: plausible mechanism of stone formation in humans. Clin Chim Acta 2009; 402:150-5.

Mak CM, Lam CW (corresponding author), Tam S. Diagnostic accuracy of serum ceruloplasmin in Wilson disease: determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects. Clin Chem 2008; 54:1356-62.

Lam CW (first and corresponding author). Mutation not universally linked with diabetes. Nature 2002; 416: 677.

Lam CW (first and corresponding author), 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 (first and corresponding author), 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.

Xie J, Murone M, Luoh SM, Ryan A, Gu Q, Zhang C, Bonifas JM, Lam CW, Hynes M, Goddard A, Rosenthal A, Epstein EH Jr, de Sauvage FJ. Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 1998; 391: 90-2.

Lam CW (first and corresponding author), 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.