PD Dr. med. Gwendolyn Gramer is a paediatrician specialized in inborn metabolic diseases and newborn screening. She studied medicine at the Universities of Würzburg, Vienna and Heidelberg (1999-2005) and received her doctorate degree from the Julius-Maximilians-University Würzburg (2006). She has been trained in paediatrics, paediatric metabolic medicine, and newborn screening at the University Hospital Heidelberg, Centre for Paediatric and Adolescent Medicine from 2005 on. In 2014 she became medical head of newborn screening at the University Hospital Heidelberg. In addition she works in care for patients with inborn metabolic diseases and neuropaediatric disorders.
The focus of her research lies on outcome studies for patients with metabolic diseases detected by newborn screening and the future extension of the German newborn screening panel. Together with her co-workers Dr. Gramer performed the first outcome study of patients identified by tandem-MS newborn screening for a screening centre in Europe. In addition she works on pathophysiology of metabolic disorders with a special interest in visual functions in patients with phenylketonuria. She authored numerous publications in the field of newborn screening and metabolic disorders in international journals, and is a regular lecturer at national and international conferences. Dr. Gramer is a regular reviewer for several international scientific journals.
In January 2015 she completed her habilitation thesis on “Diagnostics, therapy and long-term outcome for patients with inborn errors of metabolism with particular consideration of newborn screening” and obtained the postdoctoral lecturing qualification of the Ruprecht-Karls-University Heidelberg. In 2016 she organized and chaired the annual national conference of the German Society for Newborn Screening in Heidelberg.
Since 2015 Dr. Gramer is in charge of a pilot project at the Heidelberg newborn screening centre evaluating newborn screening for 26 additional metabolic disorders for the German newborn screening panel. She is a member of the German Society for Paediatric and Adolescent Medicine, German Working Group for Paediatric Metabolic Disorders (APS), Society for the Study of Inborn Errors of Metabolism (SSIEM), German Society for Newborn Screening (DGNS), and the International Society for Neonatal Screening (ISNS).