Research focuses primarily on Epilepsy in the pediatric population, as well as epilepsy genetics.
Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations BMC Medical Genetics Yue T. K. Yuen and Ilaria Guella and Elke Roland and Michael Sargent and Cyrus Boelman DOI: 10.1186/s12881-019-0827-6 12/2019
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots G3: Genes|Genomes|Genetics Mohammed Uddin and Marc Woodbury-Smith and Ada J. S. Chan and Ammar Albanna and Berge Minassian and Cyrus Boelman and Stephen W. Scherer DOI: 10.1534/g3.118.200080 02/2018
Global characterization of copy number variants in epilepsy patients from whole genome sequencing Jean Monlong and Simon L. Girard and Caroline Meloche and Maxime Cadieux-Dion and Danielle M. Andrade and Ron G. Lafreniere and Micheline Gravel and Dan Spiegelman and Alexandre Dionne-Laporte and Cyrus Boelman and Fadi Hamdan and Jacques L. Michaud and Guy Rouleau and Berge A. Minassian and Guillaume Bourque and Patrick Cossette DOI: 10.1101/199224 10/2017
Clinical Experience With Perampanel for Refractory Pediatric Epilepsy in One Canadian Center Journal of Child Neurology Anita N. Datta and Qi Xu and Shafina Sachedina and Cyrus Boelman and Linda Huh and Mary B. Connolly DOI: 10.1177/0883073817709195 05/2017
Increased subcortical oligodendroglia-like cells in pharmacoresistant focal epilepsy in children correlate with extensive epileptogenic zones Epilepsia Satoru Sakuma and William C. Halliday and Ruka Nomura and Shiro Baba and Yosuke Sato and Kazuo Okanari and Midori Nakajima and Elysa Widjaja and Cyrus Boelman and Ayako Ochi and O. Carter Snead and James T. Rutka and James Drake and Steven Miller and Hiroshi Otsubo DOI: 10.1111/epi.13590 11/2016
Statistical mapping analysis of lesion location and neurological disability in multiple sclerosis: application to 452 patient data sets NeuroImage Arnaud Charil and Alex P Zijdenbos and Jonathan Taylor and Cyrus Boelman and Keith J Worsley and Alan C Evans and Alain Dagher DOI: 10.1016/s1053-8119(03)00117-4 07/2003
Correlation between MS lesions and disability using 3D voxel-based statistical analysis NeuroImage Arnaud Charil and Alex Zijdenbos and Cyrus Boelman and Jonathan Taylor and Keith J. Worsley and Alan C. Evans and Alain Dagher DOI: 10.1016/s1053-8119(00)91601-x 05/2000
Correlation between MS lesions and disability using 3D voxel-based statistical analysis NeuroImage 2000
The Personalized Medicine in the Treatment of Epilepsy Identification of Genes Predisposing to the disease and to resistance to anti-epileptic treatments study is looking to identify genetic mutations responsible for various forms of epilepsy, as well as to understand the impact of genetic analysis and whole genome sequencing which will be used to study the participant's genes or their genome. This can lead to a better understanding of the disease and enable earlier diagnosis, as well as develop understanding of the genetic factors involved in anti-epileptic medication response at a personalized level.
Human DNA testing could improve outcomes for patients with COVID-19.
That’s the key idea put forth in preliminary research posted this month to bioRxiv that highlights the potential benefits of testing COVID-19 patients for genetic variants of ACE2—the protein identified as the point-of-entry for the SARS-COV-2 virus into human cells.
Congratulations to the BC Children's and BC Women's investigators who were awarded funding through the highly competitive Canadian Institutes of Health Research (CIHR) Project Grant Fall 2019 competition.
A new study suggests that specialized immune cells that dampen inflammation and help repair the gut could be used as a potential therapy for children dealing with the painful symptoms of inflammatory bowel disease.
We believe there’s nothing we can’t do with your support. It can take years to turn scientific breakthrough into new interventions and treatments. Funding helps speed the pace of change. When given the resources, we can bring transformative therapies – and hope – out of the laboratory and into the clinic to save and improve children’s lives.