The team behind this website
- Clara van Karnebeek, MD PhD [+]works in the Biochemical Diseases Division of British Columbia’s Children’s Hospital in Canada. Trained as a pediatrician in Amsterdam she did her fellowship in Biochemical Genetics in Vancouver, and obtained her PhD in the genetics of intellectual disability. She is particularly interested in neurometabolic disorders amenable to treatment, as well as innovative genomic technologies to improve diagnosis. She performed the systematic literature review -which generated the knowledge now translated into this digital tool- with Dr. Sylvia Stöckler-Ipsiroglu. Clara is the lead clinician-scientist and co-founder of the ‘Treatable Intellectual Disability Endeavor in B.C.’ (www.tidebc.org), a multidisciplinary and collaborative initiative to enhance the diagnosis of treatable metabolic causes of ID, allowing initiation of therapy to improve outcome (funded through BC Children’s Hospital, Vancouver, CA). This website and related digital tools are pivotal in the TIDE diagnostic protocol as well as in international collaborations. Experts worldwide will be asked for their input and the site will be updated regularly.
- Sylvia Stöckler-Ipsiroglu, MD PhD [+]is Professor in Pediatrics and Head of the Biochemical Diseases Division in British Columbia’s Children’s Hospital in Canada. She is a clinician and educator with vast experience in the field of inborn errors metabolism. Her particular interest focuses on treatable neurometabolic diseases causing intellectual disability and epilepsy, particularly the lysine restricted diet as novel therapy for Pyridoxine Dependent Epilepsy as well as the Creatine Deficiencies which she was discovered and treated for the first time. Together with Dr. Clara van Karnebeek, she performed the systematic literature review which generated the knowledge now translated into this digital tool. Currently, Sylvia is the co-founder and leader of the Treatable Intellectual Endeavor in B.C. (www.tidebc.org ), a multidisciplinary and collaborative initiative to enhance the diagnosis of treatable metabolic causes of ID, allowing initiation of therapy to improve outcome (funded through BC Children’s Hospital, Vancouver, CA). This website and related digital tools are pivotal in the TIDE diagnostic protocol as well as in international collaborations. Experts worldwide will be asked for their input and the site will be updated regularly.
- Roderick Houben [+]founder and CEO of Health2Media, is a health-IT expert and designer of digital tools. His company created the current website and enables us to transform complex medical and scientific data into an easy-to-us innovative digital tool. He currently leads the communication team within the TIDE project. Roderick will continue to work with our team to keep the site up-to-date, both in content and format.
- Mir Lafek, MD [+]was trained in the Philippines and currently works as research coordinator for the TIDE project in the Biochemical Diseases Division in British Columbia’s Children’s Hospital in Canada. For this website she has used her skills to search for and then organize the vast amount of information, links, figures, and resources. She will be instrumental in keeping the site up-to-date as well as in motivating our physicians to use this digital tool in their diagnostic evaluation of the ID patient.
- Arnold Leenders, MSc [+]is a clinical librarian specialized in systematic review according to Cochrane methodology. He currently works in the Academic Medical Caentre in Amsterdam, The Netherlands. Through his comprehensive Pubmed searches using refined strategies, he provided Dr. van Karnebeek and Dr. Stöckler-Ipsiroglu with the literature resources for their systematic review upon which this website is based. His searches will run every 2 months to allow updating of the site with novel knowledge and data on treatable IDs.
- Other important contributors [+]We gratefully acknowledge Ruth Berkow & Marlee McGuire, MSc for their enthousiastic and useful contribution to this website.
- Literature Review [+]The content of this website is based upon a systematic literature review, performed by Dr. Clara van Karnebeek & Dr. Sylvia Stöckler in B.C. Children's Hospital (Vancouver, Canada).
This review, called "Revisiting Treatable Metabolic Disorders Causing Intellectual Disability: a Systematic Literature Review" identifies 81 inborn errors of metabolism which are causally related to Intellectual Disability and amenable to therapy.
The systematic review has been published in "Molecular Genetics and Metabolism" (March 2012) and is downloadable via the link below.
- Up-to-date [+]The content of this website will be updated on a regular basis making sure all content is up to date to advances in the field. We welcome your input and feedback. Please click here to register and provide feedback.
- Disclaimer [+]Literature reporting on metabolic diseases causing Intellectual Disability is complicated and vast, with continuous expansion of insight into pheno- and genotypic presentation as well as therapeutics. The translation of this knowledge and data into the current website required simplification and therefore inconsistencies may have occurred.
For more info on Treatable ID & our new protocol visit the FAQ Page.