Solving the Big Problems

Did you always plan to work in bioengineering?

My career in bioengineering actually unfolded accidentally. I originally trained in physics, but I was always interested in the boundaries between physics and biology, and particularly in the development of new measurement techniques. And that led somewhat naturally into my role in the bioengineering department – I was recruited to help build and lead it.

You have been involved in a number of different projects – which has been your favorite?

I like to measure my work in terms of its impact and, in that regard, I think my research on noninvasive prenatal testing (NIPT) is some of the most significant thus far. Previously, invasive techniques, such as amniocentesis, were used for prenatal diagnosis in pregnancies at risk of single-gene disorders. However, building on the discoveries of Mandel and Metais in 1948 that cell free DNA exists in the blood, and then of Dennis Lo and colleagues in the 1990s who showed definitively that fetal DNA circulates in the mother’s blood, we developed the first noninvasive diagnostic test for Down's syndrome and aneuploidies. We have also been able to monitor the developmental gene expression program and sequence the genome of the fetus noninvasively.