Oleg A. Shchelochkov, M.D.

Dr. Shchelochkov's clinical research has focused on understanding the natural history of and novel therapeutic approaches to metabolic disorders. In 2006, he joined the lab of Dr. Brendan Lee, Baylor College of Medicine, where he studied the natural history of urea cycle disorders including argininosuccinic aciduria. By combining clinical and biochemical studies, he and his colleagues demonstrated beneficial effect of combining protein reduction and nitrogen scavenging to achieve better outcomes in patients with urea cycle disorders. Through national and international collaborations, Dr. Shchelochkov helped improve diagnostics and expand understanding of the natural history by describing novel aspects of urea cycle disorders, including a hyperammonemic syndrome after gastric bypass, expanded the spectrum of molecular genetics of CPS1 and OTC deficiencies, and published a clinical series documenting primary liver cancer in urea cycle disorders.

After joining Dr. Venditti's lab at NHGRI, Dr. Shchelochkov implemented a new natural history protocol dedicated to the studies of propionic acidemia. This protocol-based study enabled novel insights into the spectrum of clinical complications including the prevalence and severity of chronic kidney disease, short stature, dilated cardiomyopathy and neurocognitive manifestations in patients with propionic acidemia. More recently, Dr. Shchelochkov and colleagues developed an analytic approach that uses machine learning to identify candidate biomarkers that correlate with clinical outcomes. This approach will support the development of novel genomic therapies in propionic acidemia, specifically systemic AAV gene therapy, a lead indication for the Platform Vector Gene Therapy (PaVe-GT) program. Currently, Dr. Shchelochkov works on extending the machine-learning paradigm to other rare diseases, where the number of participants is small, but disease classification is crucial, and discovery of biomarkers is required.

Dr. Shchelochkov is a board-certified pediatrician, clinical geneticist and medical biochemical geneticist, and is currently an associate investigator at NHGRI. After his early pediatrics training at the University of Iowa and genetics training at Baylor College of Medicine, Dr. Shchelochkov was a tenure-track assistant professor within the Pediatrics Department and Division of Genetics at the University of Iowa Hospitals and Clinics. He has been part of the NHGRI research community since 2015, starting as a staff clinician. Until recently, he was an associate research-physician studying many aspects of organic acidemias. In 2021, NHGRI appointed Dr. Shchelochkov as the new Director of Clinical and Laboratory Residencies and Fellowships. Dr. Shchelochkov is an author and a co-author on more than 60 peer-reviewed publications and book chapters.