Tianjin, China - The winner of the eighth edition of the Ernesto Illy Trieste Science Prize was announced today (Tuesday, 18 September 2012). The Prize rewards scientists living and working in developing countries whose research has had a significant impact on sustainable development. In previous years, the Ernesto Illy Trieste Science Prize has been awarded for research on climate change, renewable energy, and materials science. This year's Prize is awarded in the area of human health.
The winner received his award in front of an audience of more than 500 scientists, ministers of science and presidents of science academies from around the globe. The audience was convened by TWAS, the academy of sciences for the developing world, for the TWAS 12th General Conference and 23rd General Meeting held this week in Tianjin, China, and hosted by the Chinese Academy of Sciences.
Yuk Ming Dennis Lo, director of the Li Ka Shing Institute of Health Sciences and professor of medicine at the Chinese University of Hong Kong (CUHK), received the prestigious award for developing, with his team of researchers at CUHK, a ground-breaking technology for scanning the entire genome of a foetus from a blood sample obtained from its pregnant mother.
In 1997, Lo was able to demonstrate the presence of high concentrations of cell-free foetal DNA in the plasma of pregnant women, which could then be sampled and tested. This discovery opened up new possibilities for non-invasive prenatal diagnosis, and has effectively reduced our reliance on previous invasive and potentially risky, methods.
Lo commented: "The common procedures for prenatal diagnosis based on amniocentesis (the removal of amniotic fluid from the womb) and chorionic villus sampling (taking a piece of tissue from the placenta) are not entirely risk-free due to their invasiveness. To have a non-invasive test that can give certain answers and that can be followed over time in the womb, is a concrete help in obstetrics and brings tangible benefits to both the mother and the fetus, increasing the level of safety during pregnancy and reducing both the stress due to invasive tests. In the long-term, this technology will bring positive healthcare benefits to both developed and developing countries, reducing the suffering and health-care burden caused by genetic diseases."
The discovery trail
Lo graduated from Cambridge University and obtained his DPhil from the University of Oxford in 1994, but his heart remained in Hong Kong, the city where he was born, and he decided to return home in 1997. His move back to Asia was an opportunity to start a new research programme on a hitherto 'high risk' research area, namely, the investigation of extracellular DNA in plasma. Lo and colleagues had already noted the presence of tumour-derived DNA in the plasma and serum of cancer patients. This observation led Lo to wonder if he could also observe foetal DNA in the blood of pregnant women. At the same time, molecular biology techniques that are now widely used were just catching on. The 'real-time quantitative PCR' technique used by Lo allows scientists to amplify and quantify the DNA present in trace amounts in a sample (such as foetal DNA circulating in maternal plasma that, on average, accounts for 10 percent of the total DNA maternal plasma). Applying this technique to the analysis of the plasma of pregnant women, Lo was not only able to determine the sex of the foetus, but also the presence of diseases such as beta-thalassaemia that are inherited from the father.
In a further refinement of the analysis, Lo and his team showed that it was possible to follow the natural fluctuating levels of foetal DNA in maternal blood during pregnancy, and that traces of this DNA disappear within a few hours after birth. An important application of this study concerns some of the most common ailments associated with pregnancy, such as pre-eclampsia (characterized by oedema, proteinuria and hypertension) and pre-term delivery (which occurs between the 20th and the 37th completed week of gestation). In both cases, as Lo discovered, the detection of abnormal amounts of foetal DNA in maternal blood can then be used as a marker to monitor the progress of a pregnancy or to predict possible cases of at-risk pregnancies. In 2008, Lo applied the technique already used successfully for determining the sex of an unborn child and enhanced it to be able to identify foetuses with Down's syndrome. Down's syndrome (or trisomy 21) is characterized by the presence of three copies of chromosome 21 instead of the usual two, and causes a general slowing of psychomotor and intellectual development. Through the sequencing of millions of DNA molecules amplified from maternal plasma, Lo confirmed that it was possible to work out the proportions of each chromosome and hence detect Down's syndrome. The technique, now standardized, is used widely to detect Down's syndrome and other chromosomal aneuploidies (abnormalities in chromosome number structure) in China, Europe and the United States. The results of this research were published in the New England Journal of Medicine and now represent an important point of the prenatal diagnosis.
And Lo's development of prenatal diagnoses does not stop there. Two years ago, in 2010, it was the turn of the 'foetal genomic map', full of potential mutations, obtained by sequencing foetal DNA present in maternal plasma and comparing it with the maternal and paternal genomes.
With 28 patents filed based on his work, Lo is ensuring that his research efforts are being applied where it matters and have contributed to a paradigm shift in obstetrics care. With 300 articles published in international journals Lo has been made an honorary member of the Royal Society (2011) for his scientific achievements.
For all these reasons, Lo was selected as the 2012 recipient of the Ernesto Illy Trieste Science Prize in human health.