#1684948: Webinar - Shared Pathways, Many Origins: How Diverse Genetic Risk Targets Share Developmental Networks in Autism Spectrum Disorder.
| BRI comment: | Tue June 17, 10:00 EDT. Two decades of genetic studies in autism spectrum disorder (ASD) have identified over one hundred genes harboring rare risk mutations. Despite this substantial heterogeneity, transcriptomic and epigenetic analyses have identified convergent patterns of dysregulation in post-mortem brain tissue from patients with ASD. |
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| Description: |
Two decades of genetic studies in autism spectrum disorder (ASD) have identified over one hundred genes harboring rare risk mutations. Despite this substantial heterogeneity, transcriptomic and epigenetic analyses have identified convergent patterns of dysregulation in post-mortem brain tissue from patients with ASD. Dan Geschwind and colleagues at the University of California, Los Angeles, have taken several approaches, ranging from bioinformatic to experimental, to identify shared and distinct mutational mechanisms. Their analysis of genetic risk in the context of developmental gene expression and co-expression networks shows that both common and rare genetic variation converge in early fetal cortical development. To address this experimentally, the team studied the largest hiPS cell patient cohort to date and showed that human cortical organoid (hCO) gene expression profiles converge on shared transcriptional changes driven by common early transcriptional drivers. In parallel, the lab developed a resource of isogenic IPSC lines harboring more than 100 major gene mutations associated with ASD, which the team is phenotyping using high-throughput approaches. Geschwind’s lab integrates different levels of genomic data to develop a gene-network view of developmental processes. The group’s goal is to develop more refined models to understand how genetic risk can propagate via transcriptional regulation to impact human neurodevelopment. |
| More info: | https://event.on24.com/wcc/r/4966024/A15894BA3AB3E603414786B86C7F0F1D?partnerref=eblast3 |
| Date added | June 4, 2025, 11:20 p.m. |
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| Source | On24 |
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| Venue | June 17, 2025, midnight - June 17, 2025, midnight |