Bio

Dr. Manoli is a Senior Research Physician at the National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH). She earned her M.D. from the University of Athens, Greece followed by pediatric residency training in the UK and postgraduate studies, including a M.Sc. and a Ph.D., at the University of Athens. She then completed postdoctoral and fellowship training in clinical and biochemical genetics at NIH and was board certified in 2009. Her research focuses on developing new therapies for organic acidemias (MMA, PA) and defects of intracellular cobalamin metabolism, integrating animal model studies with clinical research. She has investigated the pathophysiology of these disorders, identified novel biomarkers, and evaluated small molecule therapies. She developed stable isotope breath testing among other clinical outcome parameters that will enable translating experimental genomic therapies in disorders of propionate oxidation from animal models into the clinic. She has also led important work on medical nutrition therapy in MMA and cobalamin C deficiency, contributing to a re-evaluation of dietary management strategies for these inherited metabolic disorders and participated in an international collaboration with the EHOD consortium for the revision of the guidelines for diagnosis and management of cobalamin-related remethylation disorders. She has widely published in the areas of clinical and biochemical genetics and is a co-inventor of 7 patents.