Ayellet Segrè

Our paper is out @NatureComms on integrating retina & #GTEx e/sQTLs and single-nucleus RNA-seq from 10 eye tissues @cziscience with GWAS of #glaucoma & eye pressure to uncover disease mechanisms: shorturl.at/twxFS @MassEyeAndEar @HMSEye @broadinstitute @NatEyeInstitute 1/6

Yuyang Luo will be presenting today at 2:15pm in Room 6E #ARVO2024 on a Pharmacogenetic study of anti-VEGF response in DME lead by Dr. Sobrin and myself @asegre @HMSeye @MassEyeAndEar. A wonderful collaboration with the DRCR Retina network @drcrNet and @Regeneron Genetics Center.

We collaborated with @asegre to build an open-access resource for #visiongenomics. Come learn about the data & results at our public webinar series this week, 4/11 12n ET details here 👇 visiongenomics.org @a2f_kp

Primary open-angle glaucoma is the leading cause of irreversible blindness worldwide for people over age 55. While there isn't a cure, @asegre is leading a genetic study that may help identify risk. Learn more: spklr.io/6015WaLW. @HMSeye

Fascinating study linking OCT retinal imaging to multiple systemic diseases based on phenome-wide and genome-wide analysis. @zekavatm @DrZebardast @sdorodgar @asegre @pnatarajanmd @HMSeye @MassEyeAndEar @broadinstitute @UniLeipzig @YaleOph @ScienceTM: science.org/doi/10.1126/sc…

@anavinuela Thank you Ana!! Hope all is well!

Our paper is out @NatureComms on integrating retina & #GTEx e/sQTLs and single-nucleus RNA-seq from 10 eye tissues @cziscience with GWAS of #glaucoma & eye pressure to uncover disease mechanisms: shorturl.at/twxFS @MassEyeAndEar @HMSEye @broadinstitute @NatEyeInstitute 1/6

This work with first author Andrew Hamel @MassEyeAndEar @HMSEye was an exciting collaboration with Int'l Glaucoma Genetics Consortium (IGGC), Janey Wiggs @MassEyeAndEar, Josh Sanes & lab @Harvard, @rchenlab, @vvitart2, Swaroop lab @NatEyeInstitute & Rajasundaram @ImperialCollege!

POAG & IOP genes were enriched in fibroblasts in the conventional & unconventional outflow pathways, POAG-only genes in astrocytes in retina & optic nerve head & oligodendrocytes, IOP-only in pericytes & more, suggesting IOP-dependent & neuroprotective processes for #glaucoma 5/6

Cell type enrichment of e/sQTL-mapped genes to POAG and IOP GWAS loci and #snRNAseq of 10 anterior and posterior eye tissues using #ECLIPSER, a method developed in our lab shorturl.at/dgxY8, proposed known and less well-established pathogenic cell types for POAG & IOP (4/6)

Integrating Hi-C loops and epigenetic data from human retina from Anand Swaroop’s lab @NatEyeInstitute with POAG-colocalizing e/sQTLs proposed putative IOP-independent regulatory effects and gene targets for #glaucoma in retina (3/6).

Colocalization and MR analysis of >240 genetic associations with primary open angle glaucoma (POAG) and intraocular pressure (IOP) and retina & #GTEx e/sQTLs, proposed hundreds of genes and regulatory mechanisms that may affect POAG in IOP-dependent and independent manner (2/6).

Cell type enrichment of e/sQTL-mapped genes to POAG and IOP GWAS loci and #snRNAseq of 10 anterior and posterior eye tissues using ECLIPSER, a method developed in our lab shorturl.at/dgxY8, proposed known and less well-established pathogenic cell types for POAG & IOP (4/6)

Integrating Hi-C loops and epigenetic data from human retina from Anand Swaroop’s lab @NatEyeInstitute with POAG-colocalizing e/sQTLs proposed putative IOP-independent regulatory effects and gene targets for #glaucoma in retina (3/6).

Many congratulations to faculty members and research fellows Jia Yin, MD, PhD, MPH; @AmamotoRyoji; Isdin Oke, MD, MPH; Ayellet Segre, MSc, PhD; @LyviaNotOlivia; and @MadhuraShah2 who recently received research awards from @RPB_org! #OphthalmologyResearch

Thank you @RPB_org for this funding, as well as my research mentors @JosephR61346990 and Dr. Ksander! I'm excited to continue our work on epigenetic reprogramming in optic neuropathies at @HMSeye & @MassEyeAndEar!

The Eyes Have It [Sanes Lab] @monavarfeshani @asegre @hageman_gregory @PNASNews @harvardbrainsci mcb.harvard.edu/department/new…

Excited to share our latest paper, using CRISPR and single cell sequencing to characterize GWAS locus effects on gene expression in cis and trans. Huge thanks to @johnomix, @nevillesanjana and other collaborators!

Join me on Monday April 24 at #ARVO2023 #NOLA at 12:35pm “Epigenetic Landscape in Ocular Health and Disease“ minisymposium, where I will discuss combining epigenetics, single cell genomics and human genetics to uncover mechanisms that lead to glaucoma & AMD @HMSeye @MassEyeAndEar

@hakyim @Y_Gilad Congratulations Haky!!! Extremely well deserved!

what a great way to start a Friday, thank you so much @Y_Gilad