Can you share a little about your background and your research experiences?
My background is in translational genomics. I obtained my PhD in genetics from the University of Liverpool in the UK (my hometown). I became interested in non-invasive prenatal testing as an expectant father in 2001. My wife had an amniocentesis and I was surprised at the relatively high rate of fetal loss associated with such invasive procedures. I believed that, as a society, we could do better, so we moved to Pittsburgh to start a research group focused on this problem.
What did you do once you got to Pittsburgh?
Once in Pittsburgh, I partnered with Tianjiao Chu, PhD, who is an Associate Professor at the University of Pittsburgh in the Department of Obstetrics, Gynecology, and Reproductive Sciences. We came up with a solution quite rapidly and shared a sequencing-based approach with the University of Pittsburgh’s Office of Technology Management for detecting fetal mutations in maternal plasma in June 2007. These assays were early liquid biopsy approaches for public health screening.
What led you to the Pittsburgh Health Data Alliance?
Since 2007, my interest in this field has evolved and the lab is now focused on genomic and epigenomic-based liquid biopsy in a variety of clinical contexts. A chance meeting at UPMC Children’s Hospital of Pittsburgh lead to conversations with pediatric expert Misty Good, MD, about necrotizing enterocolitis (NEC). This is a devastating disease that affects premature neonates. Its onset is sudden, and there are no predictive assays available to identify at-risk individuals. This resulted in our PHDA AuguryDx project, which is focused on the detection of stool- and blood-based diagnostic and prognostic markers of NEC.
How do Dr. Finegold’s strengths complement your own?
My research partner, Dr. David Finegold, is a member of the faculty in the University of Pittsburgh’s Department of Human Genetics and serves as the director of the Multidisciplinary Masters of Public Health Program. Dr. Finegold and I had been collaborating off and on for years. Around six years ago, we recognized that epigenomic-based liquid biopsy would be a powerful tool for non-invasive diagnosis and phenotyping in complex human disease. We envisioned a center for the development of these assays and presented our ideas to UPMC Enterprises. This presentation led to a referral to the PHDA.
How has the Alliance supported your project’s goals?
The Pittsburgh Health Data Alliance has provided us with tremendous support since we started. One of the most valuable resources we’ve been given are the connections to other very talented researchers and health professionals. They’ve been instrumental in navigating our project from a commercial development perspective.