<\/i>NRXN1 deletion<\/h2><\/a><\/li>
<\/i>Prader-Willi Syndrome (PWS)<\/h2><\/a><\/li>
<\/i>Neurodevelopmental and Other Psychiatric Conditions<\/h2><\/a><\/li><\/ul><\/div>
\nCurrent Studies: <\/strong><\/h2>\n
Risk and Resilience in Developmental Diversity and Mental Health (R2D2-MH)<\/strong><\/em><\/h3>\n
The R2D2-MH project is a pan-European, Canadian, and Australian 5-year project which aims to <\/span>identify<\/span> risk and resilience factors associated with developmental diversity including Autism, ADHD, or Intellectual Disability.<\/span><\/p>\n
The consortium is led by Prof. Thomas Bourgeron from <\/span>Institut<\/span> Pasteur in Paris, France, and has a total for 26 partners from 13 countries. Dr. Gallagher is a consortium leader on the R2<\/span>D<\/span>2-MH executive board and is co-leads Work Package 1 (<\/span><\/span>Genetic and environmental influences on risk and resilience in neurodiversity<\/span><\/span>) alongside Prof. Beate St. <\/span>Pourcain<\/span> from the Max Planck Institute for Psycholinguistics.<\/span><\/span><\/p>\n
<\/p>\n
Relative Diversity associated with Neurexin Trajectories (<\/span>RaDiaNT<\/span>)<\/span><\/strong><\/em><\/h3>\n
As part of R2D2-MH and WP1, Dr. Gallagher is conducting <\/span>the <\/span>RaDiaNT<\/span> study which aims to investigate genetic heterogeneity and factors influencing risk and resilience in individuals with <\/span><\/span>NRXN1 <\/span><\/span>deletion.<\/span><\/span><\/p>\n
NRXN1 <\/span><\/span>deletion is a rare copy number variant (CNV) where part of chromosome 2 is deleted. It is associated with intellectual disability and autism but also shares associations with schizophrenia, ADHD, and other psychiatric conditions. Despite strong associations with these conditions, individuals with NRXN1 deletion have variable outcomes, ranging from no clinical diagnosis to multiple diagnoses<\/span><\/span><\/span>. Even within families, carriers can have dramatically different outcomes. As such, understanding the factors driving <\/span>these variable outcomes is crucial in developing more effective diagnostics and treatment strategies for <\/span><\/span>NRXN1<\/span><\/span> deletions. <\/span>This study is being conducted in collaboration with Trinity College Dublin and Murdoch\u2019s Children Research Institute, Melbourne. 240 participants will be recruited across the three study sites with 100 participants being recruited at SickKids. <\/span>Participants will be drawn from families with <\/span><\/span>NRXN1<\/span><\/span> deletions to enable a full genomic characterisation of these CNVs.<\/span><\/span><\/p>\n
<\/p>\n
Long-read <\/span><\/span><\/strong>sequencing of <\/span><\/span>NRXN1 <\/span><\/span>deletion families<\/span><\/span><\/strong><\/em><\/h3>\n
As part of the <\/span>RaDiaNT<\/span> study, we are conducting a pilot long-read sequencing study of <\/span><\/span>NRXN1 <\/span><\/span>deletion families. <\/span><\/span><\/p>\n
W<\/span>e will use a new genetic sequencing technology called long-read <\/span>sequencing (LRS), which offers improved detection of complex genetic changes and can assess DNA methylation\u2014<\/span>an important factor<\/span> in gene regulation. Our study aims to explore how <\/span>additional<\/span> genetic and epigenetic variations contribute to the diverse outcomes seen in NRXN1 deletion carriers. By doing so, we hope to enhance our understanding and improve precision in diagnostics and interventions.<\/span> This study is funded by both R2D2-MH and the McLaughlin Accelerator Fund 2024.<\/span><\/p>\n<\/div>
\nCurrent Study:<\/strong><\/h2>\n
Investigating Behaviour, Neurocognition, and Clinical Outcomes in Prader-Willi S<\/strong><\/em>yndrome<\/i><\/strong><\/h3>\n
In this study, we are investigating the<\/span> neurocognitive factors <\/span>that may be driving<\/span> key behaviors<\/span> in<\/span> PWS.<\/span><\/p>\n
Prader-Willi Syndrome (PWS) is a genetic condition that includes complex behaviours, such as autism symptoms and constant hunger (hyperphagia). This study aims to explore the brain functions related to these behaviours in people with PWS. Researchers want to understand if these behaviours come from differences in social thinking. The study will involve participants with PWS and a control group in a thorough clinical assessment and eye-tracking procedures.<\/span><\/p>\n<\/div>
\nCurrent Studies:<\/span><\/strong> <\/span><\/h2>\n
C<\/span>ohort network for Adolescents and Youth<\/span> Mental Health Multimorbidity: A Master Observational Trial (CALM)<\/span><\/strong><\/em><\/h3>\n
The CALM study is a Canadian based study which aims to garner a deeper understanding of the trajectories of youth seeking mental health care as they navigate key transition points in their development. <\/span><\/span><\/p>\n
The study focuses on youth with multiple mental health conditions (MMHC) which is common in youth seeking <\/span>mental health services and is <\/span>generally associated<\/span> with less favourable outcomes and greater health services <\/span>utilization<\/span>. Mental health disorders can also accumulate in youth over time. The <\/span>study\u2019s <\/span>ultimate goal<\/span> is to improve clinical care for youth with mental health disorders with a focus on MMHC. <\/span>Dr. Gallagher is a co-lead of this <\/span>study, and it is taking place across <\/span>six sites <\/span>in <\/span>Ontario and Alberta. <\/span>The study aims to <\/span>establish<\/span> a longitudinal cohort of ~4,000 youth aged 11-24 years. It is funded by the Ontario Brain Institute<\/span>. <\/span><\/span><\/p>\n
![\"Dr.](\"https:\/\/lab.research.sickkids.ca\/beacon\/wp-content\/uploads\/sites\/162\/2025\/10\/dr.gallager2-2-300x229.jpg\")
<\/p>\nInflammatory mediators of psychiatric genetic <\/strong><\/em>factors<\/strong><\/em><\/h3>\n
This study focuses on how <\/span>inflammation can modulate <\/span>outcomes in psychiatric conditions (autism, ADHD, intellectual disability, schizophrenia, depression, and anxiety) and whether inflammatory pathways linked to psychiatric conditions ar<\/span>e good targets for therapeutic interventions. <\/span><\/p>\n
Precision interventions are urgently needed for individuals with psychiatric conditions as current treatment strategies inadequately address individual needs. Inflammatory conditions and biomarkers are strongly associated with psychiatric conditions and rare neurodevelopmental syndromes, however, the biological mechanisms driving this relationship are poorly understood. Genetic factors shared between psychiatric conditions and inflammatory pathways can elucidate this relationship. This study will harness both genomic data from cutting-edge, biobank-scale databases and machine-learning to identify potential targets for therapeutic interventions. This study is led by Dr. Thomas Dinneen\u2019s as part of his Restracomp Fellowship, and supervised by Dr. Louise Gallagher, Dr. Daniel Felsky, and Dr. Iris Cohn.<\/span> <\/span><\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div>
Funding Partners<\/strong><\/h2><\/div><\/div><\/div>
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