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Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… to understand the pathophysiology of metabolic stress in methylmalonic acidemia (MMA). She studied the effects of dietary … a pharmacodynamic measure in upcoming clinical trials on methylmalonic and propionic acidemias. She is the lead …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… genetics education Oleg Shchelochkov, M.D. Propionic acidemia Ellen Sidransky, M.D. Gaucher disease, Lysosomal … diseases program Charles Venditti, M.D., Ph.D. Hereditary methylmalonic acidemias and disorders of intracellular …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… the gynecologic phenotype in Hermansky-Pudlak syndrome, Methylmalonic Acidemia/Cobalamin disorders/Propionic Acidemia, Chediak-Higashi syndrome and Smith-Lemli-Opitz …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.