Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.


StaR Child Health (Standards for Research in Child Health) is a group of methodologists, clinicians and policy makers who seek to enhance the quality, ethics and reliability of pediatric clinical research by promoting the use of evidence-based standards or guidance for clinical studies with children.

E4RD: Creating a framework to improve Evidence for Rare Diseases
Together with Dr. Hanneke van der Lee, a methodologist from Emma Children's Hospital in Amsterdam, Dr Sylvia Stockler and Dr Clara van Karnebeek will present the implementation of novel trial methodologies in rare metabolic diseases with the goal of improving evidence and outcomes for the patients involved. With Sravan J (PhD student in TIDE), this approach will be illustrated by current study TIDE has set up for treatable intellectual disabilities:
Pyridoxine Dependent Epilepsy and Creatine Transporter Deficiency. The second part of the workshop will focus on Personalized Medicine for Rare Diseases, with Dr. Jean Paul Collet introducing concepts and tools further illustrated by Dr. Osman Ipsiroglu on home video monitoring in sleep disorders and Dr. Bill McKellin on emplotment and parental involvement.