A5084652835- Genetic and Kidney Cyst Diseases
- Pharmaceutical studies and practices
- Genetics, Aging, and Longevity in Model Organisms
- RNA Research and Splicing
- Hearing, Cochlea, Tinnitus, Genetics
- Neurogenetic and Muscular Disorders Research
- Lung Cancer Research Studies
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- Cancer therapeutics and mechanisms
- Cellular transport and secretion
- Congenital heart defects research
- Nuclear Structure and Function
- Cystic Fibrosis Research Advances
- RNA modifications and cancer
- Statistical Methods in Clinical Trials
- Muscle Physiology and Disorders
- Genomics and Rare Diseases
- Pharmaceutical Practices and Patient Outcomes
- Cancer-related molecular mechanisms research
- Advanced Neuroimaging Techniques and Applications
- Ear and Head Tumors
- Photoreceptor and optogenetics research
- Pharmacovigilance and Adverse Drug Reactions
- Fetal and Pediatric Neurological Disorders
University of British Columbia
2020-2025
British Columbia Children's Hospital
2021-2025
Translational Therapeutics (United States)
2024
University of British Columbia Hospital
2023
Simon Fraser University
2016-2019
University of Calgary
2010-2015
Alberta Children's Hospital
2012-2013
ABSTRACT Background L‐asparaginase is essential in treating pediatric acute lymphoblastic leukemia (ALL) but limited by hypersensitivity reactions up to 70% of patients, leading severe, dose‐limiting complications and compromised event‐free survival. Procedure This study conducted a genome‐wide association (GWAS) discovery cohort 221 cancer patients who experienced l‐asparaginase–induced (≥CTCAE grade 2) 705 controls without despite equivalent exposure. Results were replicated an independent...
Recently, Alazami et al. (2015) identified 33 putative candidate disease genes for neurogenetic disorders. One such gene was DPH1, in which a homozygous missense mutation associated with 3C syndrome-like phenotype four patients from single extended family. Here, we report second variant seen members of founder population, and initially reminiscent Sensenbrenner syndrome. This postpublication "match" validates DPH1 as underlying syndromic intellectual disability short stature craniofacial...
Cisplatin-induced ototoxicity remains a significant concern in pediatric cancer treatment due to its permanent impact on quality of life. Previously, genetic association analyses have been performed detect variants associated with this adverse reaction.
Cilia are microtubule-based organelles that project from nearly all mammalian cell types. Motile cilia generate fluid flow, whereas nonmotile (primary) required for sensory physiology and modulate various signal transduction pathways. Here we investigate the ciliary signaling roles of parkin coregulated gene (PACRG), a protein linked to motility. PACRG is associated with protofilament ribbon, structure believed dictate regular arrangement motility-associated components. Roles...
Neurons throughout the mammalian brain possess non-motile cilia, organelles with varied functions in sensory physiology and cellular signaling. Yet, roles of cilia these neurons are poorly understood. To shed light into their functions, we studied EFHC1, an evolutionarily conserved protein required for motile function linked to a common form inherited epilepsy humans, juvenile myoclonic (JME). We demonstrate that C. elegans EFHC-1 within specialized mechanosensory where it regulates neuronal...
Anthracyclines are widely used as part of chemotherapeutic regimens in paediatric oncology patients. The most serious adverse drug reaction caused by anthracycline use is cardiotoxicity, a condition that can lead to cardiac dysfunction and subsequent heart failure. Both clinical genetic factors contribute patient's risk experiencing anthracycline-induced cardiotoxicity. In particular, variants RARG, UGT1A6 SLC28A3 have been consistently shown influence an individual's this reaction. By...
According to pivotal clinical trials, cure rates for sofosbuvir-based antiviral therapy exceed 96%. Treatment failure is usually assumed be because of virological resistance-associated substitutions or risk factors, yet the role patient-specific genetic factors has not been well explored. We determined if help predict patients likely fail sofosbuvir treatment in real-world situations.We recruited sofosbuvir-treated with chronic hepatitis C from five Canadian sites, and performed a...
Cisplatin, widely used in the treatment of solid tumors, causes permanent hearing loss more than 60% treated children. Previous studies have implicated several clinical factors development ototoxicity, including cumulative cisplatin dose. However, role dose intensity children remains unclear. Pharmacogenetic also identified genetic variants TPMT that increase risk cisplatin-induced loss. This study aims to determine whether contributes and variations further modifies loss.The authors...
<title>Abstract</title> Identifying sensitive and specific measures that can quantify myelin are instrumental in characterizing microstructural changes neurological conditions. Neuroimaging transcriptomics is emerging as a valuable technique this regard, offering insights into the molecular basis of promising candidates for quantification, such water fraction (MWF). We aimed to demonstrate utility neuroimaging by validating MWF measure. Data from normative brain atlas, comprised 50 healthy...
Abstract Identifying sensitive and specific measures that can quantify myelin are instrumental in characterizing microstructural changes neurological conditions. Neuroimaging transcriptomics is emerging as a valuable technique this regard, offering insights into the molecular basis of promising candidates for quantification, such water fraction (MWF). We aimed to demonstrate utility neuroimaging by validating MWF measure. utilized data from normative brain atlas, comprised 50 healthy...
Our objective for this study was to determine the relationship between regional variations in myelin water imaging (MWI) and gene expression – a “MWI transcriptome”. Regional fraction (MWF) from normative MWF atlas were examined correlation analysis with data retrieved Allen Human Brain Atlas. Genes that significantly covaried involved lipid metabolism binding, enriched terms (e.g., oligodendrocytes). This preliminary work highlights utility of an transcriptomic approach further supports MWI...
Pathogenic variants in DPH1 are associated with a rare disorder: autosomal recessive developmental delay, short stature, dysmorphic facial features and sparse hair-1 (DEDSSH1; MIM 616901, also known as Loucks-Innes syndrome). It is brain malformations (commonly cerebellar vermian hypoplasia), skull differences, congenital heart disease, hand/foot anomalies. Limited prenatal findings have been published association this condition. The purpose of case series to describe the imaging better...
Vincristine-induced peripheral neuropathy is a common and highly debilitating toxicity from vincristine treatment that affects quality of life often requires dose reduction, potentially affecting survival. Although previous studies demonstrated genetic factors are associated with risk, the clinical relevance most identified variants limited by small sample sizes unclear phenotypes. A genome-wide association study was conducted in 1100 cases controls matched ancestry, uncovering statistically...
Background: Cisplatin is commonly used to treat solid tumors; however, its use can be complicated by drug-induced hearing loss (ie, ototoxicity). The presence of certain genetic variants has been associated with the development/occurrence cisplatin-induced ototoxicity, suggesting that factors may able predict patients who are more likely develop ototoxicity. authors aimed review associations ototoxicity and discuss their clinical relevance. Methods: An updated systematic was conducted on...
The current use of ribavirin in difficult-to-cure chronic hepatitis C patients (HCV) and with severe respiratory infections is constrained by the issue ribavirin-induced hemolytic anemia that affects 30% treated patients, requiring dosage modification or discontinuation. Though some genetic variants have been identified predicting this adverse effect, known clinical factors do not entirely explain risk anemia. We assessed associations previously inosine triphosphatase (ITPA), solute carrier...