Full Name
Eirini Manoli, MD, PhD
Company
NIH - National Human Genome Research Institute (NHGRI) - Bet
Speaker Bio
Dr Manoli is a senior research physician and clinical associate investigator at the National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH). She received her M.D. from the University of Athens, Greece and pursued residency training in pediatrics in the UK and postgraduate training including a M.Sc. and a Ph.D. at the University of Athens, Greece. She then completed postdoctoral and fellowship training in clinical and biochemical genetics at NIH and was board certified in 2009. Her primary interest is in combining work on animal models and clinical studies with the aim to develop new therapies for organic acidemias (MMA, PA) and defects of intracellular cobalamin metabolism. She studied the pathophysiology underlying disease manifestations, discovering new disease biomarkers and testing 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. Her clinical research on medical nutrition therapy in MMA and cobalamin C deficiency has resulted in the re-evaluation of the dietary management of this group of IEMs. She has widely published in the areas of clinical and biochemical genetics and is a co-inventor of 7 patents.