Dennis Lo - Creating a Paradigm Shift in Prenatal Diagnostics using Circulating DNA

Professor Lo developed an interest in prenatal testing when he was a medical student at the University of Oxford. He dreamt about the possibility of testing fetal DNA and chromosomes just from a peripheral blood sample from the pregnant mother. He made a breakthrough in 1997 when he boiled maternal blood plasma and showed that he was able to observe a Y-chromosomal DNA PCR signal in samples obtained from pregnant women carrying male fetuses.
He then spent many years trying to translate this discovery into a new platform for non-invasive prenatal testing (NIPT). He showed that fetal trisomy 21 could be detected from maternal plasma by single molecule PCR and random massively parallel sequencing. The latter method has now been used worldwide by millions of pregnant women every year.
Professor Lo has also pioneered the cell-free DNA approach to many other branches of medicine, including post-transplantation monitoring and the detection of multiple types of cancer, culminating in the first generation of multi-cancer early detection (MCED) tests.