Lisa J. Strug
- Cystic Fibrosis Research Advances
- Genomics and Rare Diseases
- Genetic Associations and Epidemiology
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Neonatal Respiratory Health Research
- Epilepsy research and treatment
- Autism Spectrum Disorder Research
- SARS-CoV-2 and COVID-19 Research
- Genetic Mapping and Diversity in Plants and Animals
- Cancer Genomics and Diagnostics
- Tracheal and airway disorders
- COVID-19 Clinical Research Studies
- Gene expression and cancer classification
- RNA and protein synthesis mechanisms
- Asthma and respiratory diseases
- Reading and Literacy Development
- Congenital heart defects research
- Genetic and phenotypic traits in livestock
- Infant Nutrition and Health
- Epigenetics and DNA Methylation
- Bioinformatics and Genomic Networks
- Language Development and Disorders
- SARS-CoV-2 detection and testing
- Respiratory viral infections research
University of Toronto
2016-2025
Hospital for Sick Children
2016-2025
Public Health Ontario
2016-2025
SickKids Foundation
2015-2024
Women's Hospital
2024
Institute for Clinical Evaluative Sciences
2008-2023
Inserm
2023
Université Claude Bernard Lyon 1
2023
University College London
2015-2023
Great Ormond Street Hospital
2017-2023
Episodes of extremely hot or cold temperatures are associated with increased mortality. Time-series analyses show an association between temperature and mortality across a range less extreme temperatures. In this paper, the authors describe temperature-mortality for 11 large eastern US cities in 1973-1994 by estimating relative risks using log-linear regression analysis time-series data exploring city characteristics variations relation. Current recent days' were weather components most...
Endophenotypes or intermediate phenotypes are of great interest in neuropsychiatric genetics because their potential for facilitating gene discovery. We evaluated response inhibition, latency and variability measures derived from the stop task as endophenotypes ADHD by testing whether they were related to traits general population, heritable shared genetic risk with traits. Participants 16,099 children adolescents, ages 6 18 years who visited a local science center. measured using Strengths...
The use of spoken and written language is a fundamental human capacity. Individual differences in reading- language-related skills are influenced by genetic variation, with twin-based heritability estimates 30 to 80% depending on the trait. architecture complex, heterogeneous, multifactorial, but investigations contributions single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present multicohort genome-wide association study (GWAS) five traits assessed individually using...
Diabetes is a common age-dependent complication of cystic fibrosis (CF) that strongly influenced by modifier genes. We conducted genome-wide association study in 3,059 individuals with CF (644 CF-related diabetes [CFRD]) and identified single nucleotide polymorphisms (SNPs) within 5′ to the SLC26A9 gene associated CFRD (hazard ratio [HR] 1.38; P = 3.6 × 10−8). Replication was demonstrated 694 (124 CFRD) (HR, 1.47; 0.007), combined analysis significant at 9.8 10−10. an epithelial...
Cystic fibrosis is realizing the promise of personalized medicine.Recent advances in drug development that target causal CFTR directly result lung function improvement, but variability response demanding better prediction outcomes to improve management decisions.The genetic modifier SLC26A9 contributes disease severity CF pancreas and intestine at birth here we assess its relationship with therapeutic airways.SLC26A9 association was assessed individuals from Canadian French Gene Modifier...
A recent report found that rare predicted loss-of-function (pLOF) variants across 13 candidate genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe COVID-19 cases. We performed whole-exome or whole-genome sequencing 1,864 cases (713 with 1,151 mild disease) 15,033 ancestry-matched population controls 4 independent biobanks. tested whether pLOF these were associated COVID-19. identified only 1 mutation among 713 observed no enrichment pLOFs compared evidence...
Omics techniques generate comprehensive profiles of biomolecules in cells and tissues. However, a holistic understanding underlying systems requires joint analyses multiple data modalities. We present DPM, fusion method for integrating omics datasets using directionality significance estimates genes, transcripts, or proteins. DPM allows users to define how the input are expected interact directionally given experimental design biological relationships between datasets. prioritises genes...
Associations between rolandic epilepsy (RE) with reading disability (RD) and speech sound disorder (SSD) have not been tested in a controlled study. We conducted case-control study to determine whether (1) RD SSD odds are higher RE probands than controls (2) an proband predicts family member or SSD, hence suggesting shared genetic etiology for RE, RD, SSD.Unmatched 55 stringently defined cases, 150 the same age range lacking primary brain diagnosis, their siblings parents. Odds ratios (OR)...
Circulating immunoreactive trypsinogen (IRT), a biomarker of exocrine pancreatic disease in cystic fibrosis (CF), is elevated most CF newborns. In those with severe transmembrane conductance regulator (CFTR) genotypes, IRT declines rapidly the first years life, reflecting progressive damage. Consistent this progression, less newborn measure would reflect more disease, including compromised islet compartments, and potentially increased risk CF-related diabetes (CFRD). We show two independent...
Expanding the use of cystic fibrosis transmembrane conductance regulator (CFTR) potentiators and correctors for treatment (CF) requires precise accurate biomarkers. Sweat chloride concentration provides an in vivo assessment CFTR function, but it is unknown degree to which mutations account sweat variation.
Glycerophosphocholine (GPC) metabolites modulate atherosclerosis and thus risk for cardiovascular disease (CVD). Preclinical CVD may start during adolescence. Here, we used targeted serum lipidomics to identify a new panel of GPCs, tested whether any these GPCs are associated, in adolescence, with classical factors CVD, namely excess visceral fat (VF), elevated blood pressure, insulin resistance, atherogenic dyslipidemia.We studied population-based sample 990 adolescents (12-18 years, 48%...
Cystic Fibrosis (CF) exhibits morbidity in several organs, including progressive lung disease all patients and intestinal obstruction at birth (meconium ileus) ~15%. Individuals with the same causal CFTR mutations show variable presentation which is partly attributed to modifier genes. With >6,500 participants from International CF Gene Modifier Consortium, genome-wide association investigation identified a new locus for meconium ileus encompassing ATP12A on chromosome 13 (min p =...
The X-chromosome is often excluded from genome-wide association studies because of analytical challenges. Some the problems, such as random, skewed, or no X-inactivation model uncertainty, have been investigated. Other considerations received little to attention, value in considering nonadditive and gene-sex interaction effects, inferential consequence choosing different baseline alleles (i.e., reference vs. alternative allele). Here we propose a unified flexible regression-based test for...
Abstract Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised with variable seizure prognosis and sex differences in disease presentation. Here, we investigate the combined epidemiology of sex, types precipitants, their influence on JME, through cross-sectional data collected by The Biology Myoclonic Epilepsy (BIOJUME) consortium. 765 individuals met strict inclusion criteria for JME (female:male, 1.8:1). 59% females 50% males reported triggered seizures, only, this was...