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Ching-Wan Lam

Ching-Wan Lam

The University of Hong Kong
Hong Kong


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

Research Interest

The elucidation of the molecular basis of inherited human diseases through the identification of disease-causing genes. The development of molecular diagnostics through the identification of the mutation spectrum of disease-causing genes. Provides an effective DNA-based diagnostic protocol suitable for the 1.3-billion Chinese populations worldwide.