Yuk-Ming Dennis Lo, MD
AACC-NACB Award for Outstanding Contributions to Clinical Chemistry in a Selected Area of Research

Dr. Lo is the director of the Li Ka Shing Institute of Health Sciences and chair of the department of chemical pathology of The Chinese University of Hong Kong. In 1997, Dr. Lo and his co-workers reported the presence of cell-free fetal DNA in the plasma of pregnant women. This discovery challenged the conventional wisdom regarding the role of the placenta as a barrier between the fetal and maternal circulations. The finding of circulating fetal DNA in maternal blood has also opened up new possibilities for noninvasive prenatal diagnosis. Over the past 15 years, Dr. Lo has elucidated the fundamental biological characteristics regarding circulating fetal DNA, including its concentrations, gestational variations, length distributions, and clearance patterns. Dr. Lo has demonstrated the use of such fetal-derived molecules for the prenatal diagnosis of sex-linked diseases, blood group genotyping, and a variety of monogenic disorders. To develop a noninvasive test for Down syndrome, Dr. Lo and his team developed an approach based on molecular counting and showed that massive parallel sequencing is an efficient method for detecting fetal chromosomal aneuploidies. In 2011, Dr. Lo and his team published the first large-scale validation of this sequencing-based technology for Down syndrome detection, with confirmations by numerous groups since then. This technology was quickly introduced into clinical practice. Recently, Dr. Lo has pushed the envelope of the field by demonstrating that a genomewide genetic map of the fetus can be deduced by deep sequencing of the pregnant mother's plasma. Dr. Lo's work has created a paradigm shift in prenatal diagnosis, making such testing safer for the fetus and less stressful for the pregnant mother.

2007 Award for Outstanding Contribution for a Publication in the International Journal Clinical Chemistry

Dr. Lo is professor of chemical pathology and the Dr. Li Ka Shing Professor of Medicine at The Chinese University of Hong Kong. He is also the associate dean for research of the faculty of medicine, the director of the Li Ka Shing Institute of Health Sciences, and associate director of the state laboratory in oncology in South China. Dr. Lo's main research interests lie in the biology and diagnostic applications of cell-free DNA and RNA in plasma. In 1997, Dr. Lo discovered the presence of cell-free fetal DNA in the plasma of pregnant women. The work that led to this award-winning paper originated from his demonstration that epigenetic markers can be used for the detection of fetal DNA in maternal plasma. Unlike genetic markers, in which no single marker can be informative in all pregnancies, epigenetic markers have the potential to be used as universal fetal DNA markers. In 2005, Dr. Lo developed the first such marker, SERPINB. In his award-winning paper, Dr. Lo demonstrated that the tumor suppressor gene RASSF1A exhibits a pattern of methylation which is reverse to that of SERPINB5, namely hypermethylated in the placenta but hypomethylated in maternal blood cells. This pattern of methylation allowed Dr. Lo to develop a simple methylation-sensitive restriction-enzyme–mediated real-time polymerase chain reaction assay for the detection of the hypomethylated RASSF1A gene. This RASSF1A assay could be implemented as a fetal DNA control for the performance of fetal RhD genotyping from maternal plasma. The concepts explored in this paper also have implications for the development of other fetal epigenetic markers for noninvasive prenatal diagnosis. Dr. Lo has pioneered a number of other important applications of plasma nucleic acids; he has published more than 230 articles in international journals. The winning paper is: "Hypermethylated RASSFIA in Maternal Plasma: A Universal Fetal DNA Marker that Improves the Reliability of Noninvasive Prenatal Diagnosis." K.C. Allen Chan, Chunming Ding, Ageliki Gerovassili, Sze W. Yeung, Rossa W.K. Chiu, Tse N, Leung, Tze K. Lau, Stephen S.C. Chim, Grace T.Y. Chung, Kypros H. Nicolaides, and Y.M. Dennis Lo. Clin Chem 2006; 52:12, 2211–8.

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