Speakers

Karin Naess, MD, PhD is senior consultant at the Centre for Inherited Metabolic Diseases at Karolinska University Hospital. She is active in the field of translational and clinical research in mitochondrial diseases.

Professor Anna Wedell is senior consultant at the Centre for Inherited Metabolic Diseases at Karolinska University Hospital. She has been deeply involved in implementation of whole genome sequencing into healthcare and has discovered a number of novel monogenic disorders. She is also director of the newly established Precision Medicine Center Karolinska, an academic-clinical partnership aiming to facilitate implementation of precision medicine into healthcare.

Simon Jones, MD, is consultant in Paediatric inherited metabolic disease and senior Lecturer at The University of Manchester. His major research interest is therapy for lysosomal storage diseases (LSD’s), and he is currently the principal investigator in a number of LSD trials

Professor Tom de Köning, MD, PhD is a pediatrician, specializing in inborn errors of metabolism. He is since 2019 Professor and Head of the Pediatric Department at Lund University. He has made significant contributions to the field of amino acid metabolism disorders, movement disorders, and has also published several new CDG syndromes. He combines his expertise in delineating new disorders with molecular and biochemical research tools (next-generation sequencing and mass spectrometry) to enhance diagnostic strategies, and systematically unravel new disorders and subsequently explore potential treatments.

Professor Mar Tulinius has recently retired as senior consultant in pediatrics at Drottning Silvias Barnsjukhus. He is active at Göteborgs University in the field of translational and clinical research on neuromuscular diseases.

Malin Kvarnung MD, PhD is a consultant at Clinical Genetics at Karolinska University Hospital. She is active in the field of genetics and neuromuscular diseases.

Professor Thomas Sejersen is a senior consultant in pediatrics at Astrid Lindgrens Barnsjukhus, Karolinska Universitetssjukhuset and Karolinska Institutet. He is active in the field of translational and clinical research on neuromuscular diseases.

Professor Paul Gerdhem is a senior consultant in Orthopedics. He is responsible spinal surgery at  Karolinska Universitetssjukhusetis active in the field of translational and clinical research on spinal and scoliosis ortopedics.

Tommy Stödberg MD, PhD is senior consultant at the Neuropediatric Department at Karolinska University Hospital. He is clinically and research active in the field of epilepsy genetics and is head of the pediatric epilepsy team.

Sintia Kolbjer MD, is senior consultant at the Neuropediatric Department at Karolinska University Hospital. Her thesis project concerns Epilepsy in cortical malformations.

Ulrika Sandvik MD, PhD is senior consultant at the Neurosurgery Department at Karolinska University Hospital where she is also head of the Epilepsy Surgery Program.

Associate Professor Maria Dahlin is senior consultant at the Neuropediatric Department at Karolinska University Hospital. She is clinically and research active in the field of epilepsy and head of the ketogenic diet team.

Stefanie Prast-Nielsen, PhD, Research Specialist and Principal Investigator in Multi-omics and Machine Learning at CTMR, Karolinska Institutet

Anna Ekesbo Freisinger MD, PhD is senior consultant and Head of the Neuropediatric Department at Karolinska University Hospital. She is clinically and research active in the field of pediatric stroke and head of the pediatric neurovascular team.

Professor Maja Steinlin,MD, is Professor Emeritus at the Development and Rehabilitation at the Children’s University Hospital in Bern. Her research focuses on cerebellar problems and on cerebrovascular disorders in children. She is the initiator and PI of the Swiss Neuropaediatric Stroke Registry.