I am a clinical scientist with board certifications in pediatrics, genetics, and biochemical genetics. I spend the majority of my time caring for patients with RASopathies, mTORopathies, lysosomal storage diseases, and metabolic disorders. I developed a comprehensive program for the diagnosis, management, and treatment of over 2,000 patients at Cincinnati Children’s.
I have previously characterized morbidity and therapeutic limitations of management of plexiform neurofibromas in NF1 (Prada et al, J Pediatr 2012), evaluated the utility of imaging screening for optic nerve gliomas in NF1 (Prada et al, J Pediatr 2015), and discover that over 30% of cells in NF1 related tumors (neurofibromas/MPNSTs) are macrophages implicated in tumor initiation (Prada et al, Acta Neuropathol 2013). I have created a clinical biorepository from carefully phenotyped patients, who are evaluated in our program at Cincinnati Children’s with the goal of identifying biomarkers, disease modifiers, and gene discovery. This effort has led to identification of novel RASopathies (Guo et al, Sci Adv 2019) and other overlapping disorders (Chung et al, Neuron 2020, Salpietro et al, Am J Hum Genet, 2019).
I have developed key partnerships with basic scientists, foundations, and pharmaceutical companies to develop novel therapies for this group of genetic disorders. I was awarded a clinical trial from the DoD to use N-acetylcysteine for management of NF1 motor and learning behaviors. I have also been a principal investigator for multiple industry funded phase I, phase II, and natural history clinical trials, and a mentor to many fellows, residents, medical students, and undergraduates. I also serve as an associate editor in the American Journal of Medical Genetics.
