Kristen Skvorak
Director

Dr. Skvorak is currently a freelance Preclinical Development consultant with 20 years of experience specializing in inborn errors of metabolism (IEM) and translational biology. She has dedicated her career to enabling the incorporation of the patient voice into drug development, from ideation through approval, and certifying the establishment of patient-centric strategies. She earned her PhD from the University of Pittsburgh in 2008, after which her research validating liver-directed cell therapies formed the foundation of two clinical trials for IEM in two countries (US and Sweden). She also contributed to the creation and characterization of the first viable model of Maple Syrup Urine Disease (MSUD), the intermediate MSUD mouse, and the first large animal model of Phenylketonuria (PKU), a porcine model. She also helped to further characterize a mouse model of PKU, illuminating new phenotypes not previously described. In 2016, Dr. Skvorak joined Codexis, an enzyme engineering company developing novel oral enzyme substitution therapies targeting metabolic disease and IEM. There, she contributed to the discovery and preclinical validation of several programs for oral delivery, including for PKU and Exocrine Pancreatic Insufficiency, which progressed to the clinic under Nestle Health Science. She also served as translational lead for preclinical programs in Homocystinuria and MSUD, which yielded peer-reviewed publications, multiple patents, and achieved Orphan Disease Designation and Rare Pediatric Disease Designation from the FDA, which are now moving forward with Syntis Bio. She has been consulting to support preclinical development of new therapies for IEMs and other metabolic diseases since 2023, serves on the Scientific Advisory Boards of two other IEAAM organizations, and is the Director of Research for the rare disease patient group CDG CARE.