Journal of Inherited Metabolic Disease

Editorial Board

Senior Editor-in-Chief

Shamima Rahman, MA, BM BCh, PhD, FRCP, FRCPCH, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK

Editor-in-Chief

Matthias R. Baumgartner, MD, University Children's Hospital and University of Zurich, Zurich, Switzerland

Editors

D. Sean Froese, PhD, University Children's Hospital, Zürich, Switzerland

Johannes Zschocke, MD, PhD, Medical University Innsbruck, Innsbruck, Austria

Managing Editor

Verena Peters, PhD, University Hospital of Heidelberg, Heidelberg, Germany

Social Media Editor

James Nurse, MBBS, MRCPCH, Pgdip, University Hospital Southampton NHS Foundation Trust, Southampton, UK

Statistical Editor

Lars Morkrid, MD, PhD, Oslo University Hospital, Oslo, Norway

Communicating Editors

Saadet Andrews, MD, PhD, FCCMG, FRCPC, Toronto, Canada

Jirair Bedoyan, PhD, Pittsburgh, PA, USA

Gerard Berry, MD, Boston Children's Hospital, Boston, MA, USA

Nicola Brunetti-Pierri, MD, PHD, Telethon Institute of Genetics and Medicine, Italy

Areeg El-Gharbawy, MD, DSc, Pittsburgh, PA, USA

Carlos Ferreira, MD, National Human Genome Research Institute, Bethesda, MA, USA

Sven Garbade, PhD, University Hospital of Heidelberg Heidelberg, Germany

Roberto Giugliani, MD, PhD, MSc, UFRGS, Porto Alegre, Brazil

Johannes Haeberle, MD, University Children's Hospital, Zurich, Switzerland

Julia Hennermann, Mainz, Germany USA

Georg Hoffman, MD, University Hospital of Heidelberg, Heidelberg, Germany

Sander Houten, MSc, PhD, Icahn School of Medicine at Mount Sinai- New York, Amsterdam, The Netherlands

Jaak Jaeken, MD, Phd, KU Leuven, Leuven, Belgium

Clara van Karnebeek, MD, University of Amsterdam, Amsterdam, The Netherlands

Ina Knerr, MD, PD, FRCPI, Temple St. Children's University Hospital, Dublin, Ireland

Robin Lachmann, MD, PhD, National Hospital for Neurology and Neurosurgery, London, UK

Fanny Mochel, MD, PhD, Sorbonne University, Paris, France

Eva Morava, Icahn School of Medicine at Mount Sinai, New York, USA

Markus Ries, MD, PhD, MHSc, FCP, University Hospital of Heidelberg, Heidelberg, Germany

Manuel Schiff, MD, PhD, Necker Hospital, University Paris Cité and Institut Imagine, Paris, France

Johan Van Hove, MD, PhD, University of Colorado School of Medicine, Denver, University of Colorado School of Medicine, Aurora, CO, USA

Charles Venditti, MD, PhD, Bethesda, MD, USA

Ronald Wanders, PhD, University of Amsterdam, Amsterdam, The Netherlands 

Peter Witters, MD, PhD, University Hospitals Leuven, Leuven, Belgium

Saskia Wortmann, MD, PhD, Technical University München, Salzburg, Austria/Munich, Germany

Advisory Board

Nenad Blau, PhD, University Children's Hospital, Zürich, Switzerland

Peter Burgard, PhD, University Hospital of Heidelberg, Heidelberg, Germany

David Cassiman, MD, PhD, University of Leuven, Leuven, Belgium

John Christodoulou, MB, BS, PhD, FRACP, FRCPA, FFSc, CGHGSA, University of Sydney, Westmead, Sydney, Australia

Carlo Dionisi-Vici, MD, Bambino Gesù Children's Hospital, Rome, Italy

Carla Hollak, Amsterdam, The Netherlands

Martina Huemer, MD, University Children’s Hospital Zurich and Children’s Research Centre, Bregenz, Austria/Zürich, Switzerland

Viktor Kozich, MD, CSc, First Faculty of Medicine and General University Hospital, Prague, Czech Republic

Ertan Mayatepek, MD, University Children's Hospital Duesseldorf, Düsseldorf, Germany

Uma Ramaswami, MBBS, DCH, MRCPCH, FRCPCH, MSc, MD, Addenbrooke's Hospital, London, UK 

Gajja Salomons, PhD, VU University Medical Center & Amsterdam Neuroscience, Amsterdam, The Netherlands

Jörn Oliver Sass, Dr. rer. nat., Bonn‐Rhein Sieg University of Applied Sciences, Rheinbach, Germany

Maurizio Scarpa, MD, PhD, University of Padova, Padova, Italy USA

Jerry Vockley, MD, PhD, University of Pittsburgh, Pittsburgh, PA, USA

Ron Wevers, PhD, Radboud University Medical Center, Nijmegen, The Netherlands

William Wilcox, MD, PhD, Emory University, Atlanta, GA, USA

Meet the Senior Editor-in-Chief

Professor Shamima Rahman is Professor of Paediatric Metabolic Medicine at the UCL Great Ormond Street Institute of Child Health, London, where she founded the Mitochondrial Research Group in 2000. The Mitochondrial Research Group aims to enhance the diagnosis and treatment of primary mitochondrial diseases. Professor Rahman is also an Honorary Consultant in Paediatric Metabolic Medicine at Great Ormond Street Hospital, London. She coordinates the Mitochondrial network within the MetabERN European Reference Network and the Mitochondrial subdomain of the Genomics England Clinical Interpretation Partnership. Professor Rahman has been an Editor of JIMD since 2014 and Senior Editor-in-Chief since 2022.
Meet the Editor-in-Chief
Professor Matthias Baumgartner is professor of Metabolic Diseases at the University of Zurich, head of the Division of Metabolism, Medical Director of the Swiss Newborn Screening Program and Director of Research & Education at the University Children’s Hospital Zurich, Switzerland. Since 2012 he has been leading research priority programs on rare diseases, "radiz" and “ITINERARE”, at the University of Zurich. His main research interest is in disorders of intracellular cobalamin metabolism including the homocystinurias and methylmalonic acidurias.  He is a cofounder and steering committee member of the European networks and registries for Intoxication type Metabolic Diseases (E-IMD, www.e-imd.org) and for Homocystinurias and remethylation disorders (E-HOD, www.e-hod.org). Professor Baumgartner has been an Editor of JIMD since 2014 and Editor-in-Chief since 2022.
Meet the Managing Editor
Verena Peters is Professor for Biochemistry at the Centre for Child and Adolescence Medicine, University Hospital Heidelberg, Germany. She has established numerous analytical methods, characterized metabolic pathways and enzyme functions and has realized numerous research projects with other metabolic centers. She is a Principal investigator in the collaborative research center on "Reactive Metabolites as a cause of diabetes complications” (CRC1118) and part of the international quality control for laboratory diagnostics ERNDIM.

Meet the Editors

D. Sean Froese Sean Froese, PhD, is the Head of Research in the Division of Metabolism at the University Children’s Hospital in Zurich, Switzerland.  He obtained a PhD in Biochemistry and Molecular Biology at the University of Calgary, Canada, and was a postdoctoral fellow at the University of Oxford, UK. He now leads a research group focused on inherited vitamin responsive disorders. Sean has been an Editor of JIMD since 2023.

Johannes Zschocke Johannes Zschocke, Dr.med., Ph.D., is Professor and Chair of Human Genetics at the Medical University Innsbruck, Austria, where he is also Director of the Department of Genetics and of the Centre for Medical Genetics Innsbruck. As such he is responsible for the provision of genetic services for the Western Austria and beyond. His clinical and research focus is on inherited metabolic and connective tissue diseases. He was Editor in Chief for the JIMD from 2005-2015 and has remained as Editor since.