Dr. Dietrich Stephan is recognized as one of the fathers of the field of precision medicine. He is professor and chairman of the Department of Human Genetics at the University of Pittsburgh. Dr. Stephan’s department includes one of the premier genetic counseling training programs in the country. Dr. Stephan also leads translational and population health efforts at the Personalized Medicine Institute of UPMC. He has developed precision medicine implementation strategies at several provider systems including Boston Children’s Hospital, Inova Health System, and Fox Chase Cancer Center. Dr. Stephan previously oversaw research at the Translational Genomics Research Institute (TGen). He is extending his focus areas from developing personalized interventions to prevention and regeneration solutions.
Dr. Stephan’s team uses high-throughput molecular scanning to understand the root cause of a multitude of diseases so as to develop new early diagnostics and targeted therapeutics. Recognizing that innovation necessarily passes through the commercial layer to scale and benefit patients, his commercial thesis is based on addressing obvious unmet needs to reduce suffering and death. Dr. Stephan has brought to market many new clinical tools, often first-in-class modalities, including but not limited to:
multivariate genetic risk assessment for chronic disease and the first wallet card for pharmacogenomics (Navigenics, acquired by Life Technologies)
powerful cognitive enhancers for memory and learning disorders (Amnestix, acquired by Sygnis AG)
single molecule long read nanopore sequencing technology (Genia Technologies, acquired by Roche)
genome interpretation (Lifecode, acquired by MedGenome)
inventing cancer tumor sequencing and target-based drug selection (Aueon, acquired by TOMA biosciences)
liquid biopsy for cancer detection and therapy response (Guardant Health)
whole-genome sequencing and phasing technology (iGenomx)
microbiome sequencing and modulation across clinical indications (Whole Biome)
immune-therapy for autoimmune diseases (DiaVacs)
rapid turn-around genetic testing for actionable genetic disease in the NICU and expanded newborn screening (Parabase)
home-based diagnostic for early stroke diagnosis (CereDx)
a novel class of broad spectrum antibiotics refractory to resistance promising to address the global epidemic of multi-drug resistant bacterial infections (Peptilogics)
Dr. Stephan’s impact also includes bringing to market many Dx/Rx that are routinely benefiting patients globally through his discovery efforts in disorders such as autism spectrum disorder, heart disease, Alzheimer’s disease, etc.
Dr. Stephan gives back through charities such as Curable (501c3) as Chairman, focused on curing rare diseases through an integrative strategy and as a Board Director of the non-profit Personalized Medicine Coalition. He has won numerous awards including the Bio-IT World Grand Prize in 2005, the “Most Influential in Bringing Genomics to the Clinic” award from the Consumer Genomics Conference in 2010, and the Legacy Laureate award from the University of Pittsburgh in 2012. Dr. Stephan’s work has been highlighted in books documenting the dawn of personalized medicine and in the press, including twice on page A1 of the Wall Street Journal.
Dr. Stephan trained as a fellow at the National Human Genome Research Institute of NIH, received his PhD from the University of Pittsburgh, and obtained a BSc from Carnegie Mellon University.
View a list of Dr. Stephan’s publications here.