The ISIMD Autumn Meeting 2019 was held in November 2019. Our keynote speaker was Prof. Clara van Karnebeek. She is the Head of the Metabolic Department at Nijmegen University and Principal Investigator at the Universities of Amsterdam and Vancouver. Her research focus is on translational science, and in particular the early diagnosis and innovative treatments of neuro-metabolic diseases. Prof. van Karnebeek gave an excellent lecture on ‘Next Generation Technologies and Management of Neurometabolic Disorders’ which was very well received. We hope that future collaborations in this field will help to identify previously under-diagnosed patients with neurometabolic phenotypes along with discovering novel genetic conditions and improving management.