BEGIN:VCALENDAR VERSION:2.0 PRODID:talks.ox.ac.uk BEGIN:VEVENT SUMMARY:Cellular and Developmental Context of Genetic Risk in Brain Disord ers - Emilie Wigdor (University of Oxford)\, Dr Narjes Rohani (University of Oxford) DTSTART;VALUE=DATE-TIME:20260317T093000Z DTEND;VALUE=DATE-TIME:20260317T103000Z UID:https://talks.ox.ac.uk/talks/id/0414daa8-ffe4-4c35-b16a-653a00b493df/ DESCRIPTION:For our next talk\, in the BDI/CHG (gen)omics Seminar series\, we will be hearing Emilie Wigdor\, Postdoctoral Research Scientist\, The Sanders Group and Dr Narjes Rohani\, Postdoctoral Research Associate. The Sanders and Rinaldi labs. We’re delighted to host Emilie and Narges in w hat promises to be a great talk!\n\nDate: Tuesday 17 March 2026\nTime: 9:3 0 – 10:30 am\nLocation: BDI/OxPop Seminar room 0\n\nTalk title: Cellular and Developmental Context of Genetic Risk in Brain Disorders\, Dr Narjes Rohani\nTalk title: Cell-type-specific regulatory dysregulation in autism\ , Emilie Wigdor\n\nBio: Dr Narjes Rohani is a postdoctoral research associ ate in the Sanders and Rinaldi labs\, where she investigates the genetic a nd epigenetic mechanisms underlying neurodevelopmental and psychiatric dis orders. Her work integrates multi-omic data\, including bulk and single-ce ll RNA sequencing\, single-cell chromatin accessibility\, and bulk DNA seq uencing\, from brain tissues across developmental stages to understand whe n and how these conditions emerge. Ultimately\, she aims to identify regul atory enhancers that may serve as potential therapeutic targets.\n\nAbstra ct: Although thousands of GWAS variants for brain disorders have been iden tified\, it remains unclear when and where in the brain these genetic effe cts are most active. To address this gap\, we integrated GWAS data for a r ange of brain disorders with cell type– and developmental stage–specif ic ATAC-seq and RNA-seq data using stratified LD score regression and gene expression enrichment analyses. We identified the developmentally specifi c neuronal and non-neuronal cell populations in which genetic risk is conc entrated. Our results reveal strong enrichment of psychiatric risk in post natal excitatory neurons and distinct microglial contributions to neurodeg enerative diseases. Finally\, we identified an enhancer element that may s erve as a potential therapeutic target for SOX5 haploinsufficient syndrome \, demonstrating how single-cell and developmental stage–specific data c an nominate biologically meaningful and clinically relevant regulatory reg ions.\n\nBio: \nDr Emilie Wigdor is a postdoctoral researcher in the Sande rs Lab\, where she integrates whole-genome sequencing with single-nucleus RNA and ATAC sequencing to investigate the regulatory basis of neurodevelo pmental and psychiatric disorders. Her research focuses on how common and rare genetic variation converge on cell-type-specific molecular pathways i n autism.\n\nShe completed her PhD at the Wellcome Sanger Institute\, stud ying the contribution of common variation to rare neurodevelopmental disor ders and the impact of spliceosomal gene variants. Her work has also exami ned sex differences in autism\, including genetic and epidemiological evid ence supporting a female protective effect. Dr Wigdor previously held a Ju nior Research Fellowship at the Centre for Personalised Medicine at St Ann e’s College.\n\nAbstract: \nAutism is highly phenotypically and genetica lly heterogeneous\, raising the question of whether diverse aetiologies co nverge on shared regulatory programs. Using paired single-nucleus RNA and ATAC sequencing from postmortem human cortex\, including cases with and wi thout identified pathogenic variants\, we mapped transcriptional and chrom atin accessibility changes at cell-type resolution.\nDysregulation was con centrated in excitatory and inhibitory neurons and was most pronounced amo ng genetically diagnosed cases\, yet genome-wide effect sizes were partial ly concordant with cases without a known genetic diagnosis. Integration of chromatin accessibility data identified recurrent increases in RFX family motif accessibility across neuronal populations. RFX3\, an established au tism risk gene identified through rare variant studies\, showed coordinate d changes in motif accessibility and expression\, and was associated with altered immediate-early gene programs\, implicating activity-dependent reg ulatory pathways.\n\nTogether\, these findings suggest that diverse geneti c aetiologies converge on common neuronal regulatory pathways revealed by integrated single-nucleus profiling.\n———————————— ———————————————————————— ————\nAll members of the University are welcome to join\, please l et reception at BDI know you’re here for the seminar and sign-in. We hop e you can join us!\n\nWe also now have a mailing list –\nTo be added\, p ing genomics_bdi_whg-subscribe@maillist.ox.ac.uk (with any message)\, you should get a bounce-back with three options to confirm your subscription. Follow any of those options\, and with a bit of luck you should be signed up!\n\nAs a reminder\, the (gen)omics seminar series runs every other Tues day morning and is intended to increase interaction between individuals wo rking in genomics across Oxford. We encourage in-person attendance where p ossible. There is time for discussion over\, tea\, coffee and pastries aft er the talks.\n\nHybrid Option:\nPlease note that these meetings are close d meetings and only open to members of the University of Oxford to encoura ge sharing of new and unpublished data. Please respect our speakers and do not share the link with anyone outside of the university.\n\nMicrosoft Te ams meeting \nhttps://teams.microsoft.com/meet/34860831816590?p=6hPeBaocoV aZWTWAlm \nMeeting ID: 348 608 318 165 90 \nPasscode: WR2NA22f\n\n\nSpeake rs:\nEmilie Wigdor (University of Oxford)\, Dr Narjes Rohani (University o f Oxford) LOCATION:Big Data Institute (Seminar room 0)\, Old Road Campus OX3 7LF TZID:Europe/London URL:https://talks.ox.ac.uk/talks/id/0414daa8-ffe4-4c35-b16a-653a00b493df/ BEGIN:VALARM ACTION:display DESCRIPTION:Talk:Cellular and Developmental Context of Genetic Risk in Bra in Disorders - Emilie Wigdor (University of Oxford)\, Dr Narjes Rohani (Un iversity of Oxford) TRIGGER:-PT1H END:VALARM END:VEVENT END:VCALENDAR