Professor Dr. med. Georg F. Hoffmann
AFFILIATIONS
- Professor of Pediatrics and Chairman of the University Childrens Hospital Heidelberg, Germany
- Head of the Committee for Newborn Screening of the German Pediatric Association
- Head of the Center for Rare Diseases, Medical Center University of Heidelberg
- Member of the Leopoldina - National Academy of Sciences
EDUCATION
- Medical School: Universities of Göttingen, F.R.G., and Birmingham, U.K., 1976 to 1984
- Medical Thesis: 1978 - 1982 on the subject of "Disturbances of carbohydrate and energy metabolism leading to mental retardation and neurodegenerative diseases"; medical doctor's degree with "summa cum laude" on June 5, 1984, (Prof. Dr. U. Langenbeck, Institute for Human Genetics, Göttingen, F.R.G.)
- Accredited subspecialisations in Pediatric Metabolic Medicine, Pediatric Neurology, Epileptology, Neonatology and Laboratory Medicine
- Habilitation: December 17, 1992 on the subject of "Mevalonic Aciduria - The First Inborn Error of Cholesterol- and Nonsterol Isoprene Biosynthesis"
RESEARCH
- Neurometabolic and neurogenetic diseases
- Diagnosis, pathophysiology and treatment of metabolic diseases
- Liver disease, liver failure and liver cell therapy
- Newborn screening in all facettes
- Development of platforms for metabolic and genetic diagnostics
- Original peer-reviewed scientific contributions: >520, chapters and books: >440, H-index 52
Selected Papers
- Schneider A, Thiel C, Rindermann J, …, Hoffmann GF, Gröne HJ, Körner C. 2012 Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice. Nat Med 18: 71-73
- Burgard P, Kölker S, Haege G, Lindner M, Hoffmann GF. 2016 Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders – review and meta-analysis of observational studies published over more than 35 years. J Inherit Metab Dis 39: 219-229
- Opladen T, Lindner M, Das AM, …, Hoffmann GF. 2016 In vivo monitoring of urea cycle activity with 13C-acetate as a tracer of ureagenesis. Mol Genet Metab 117: 19 – 26
- Pan Y, Shen N, Jung-Klawitter S, Betzen C, Hoffmann GF, Hoheisel JD, Blau N. 2016 CRISPR RNA-guided Fokl nucleases repair a PAH variant in a phenylketonuria model. Sci Rep 6: 35794
