Lam Ching Wan

  • Fellowship in 1999 at Harvard University


Professor Ching-Wan 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(Glasg) from The Royal College of Physicians and Surgeons of Glasgow in 2012.

Professor Lam is a chemical pathologist with 25 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.

Professor Lam 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.

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



My main research interest is focused on the elucidation of the metabolic and molecular basis of inherited human diseases through the identification of disease-causing genes and the biochemical pathways. For the past 25 years, I have, thus far, succeeded in identifying the molecular bases of 150 different genetic diseases in Chinese populations. My current research interest is mainly focused in metabolomics, in particular cancer metabolomics. Metabolomics is an emerging field providing mechanistic insights into pathological processes of human diseases. It is an effective tool to identify pathological pathways for new therapeutic strategies against cancer. 

Selected Publications

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.

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   2015;27:211-22.

Tian X, Liang WC, Feng Y, Wang J, Zhang VW, Chou CH, Huang HD, Lam CW, et al. Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet 2015; 1:e14.

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, 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.

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, 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.