Ayellet Segrè

Genetics and Functional Genomics of Complex Diseases

[Ayellet Segrè @asegre]

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: https://t.co/JR1JEMzzjh @MassEyeAndEar @HMSEye @broadinstitute @NatEyeInstitute 1/6

[Ayellet Segrè @asegre]

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.

[Common Metabolic Diseases Knowledge Portal @AMP_CMDKP]

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 👇
https://t.co/T3umtDOaqx @a2f_kp

[Mass Eye and Ear @MassEyeAndEar]

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: https://t.co/VWN0SX6a0f. @HMSeye

[Michael F. Chiang, MD @NEIDirector]

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: https://t.co/7TcqZQL0ZK

[Ayellet Segrè @asegre]

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

[Ayellet Segrè @asegre]

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: https://t.co/JR1JEMzzjh @MassEyeAndEar @HMSEye @broadinstitute @NatEyeInstitute 1/6

[Ayellet Segrè @asegre]

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!

[Ayellet Segrè @asegre]

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

[Ayellet Segrè @asegre]

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 https://t.co/Kth8O68IhZ, proposed known and less well-established pathogenic cell types for POAG & IOP (4/6)

[Ayellet Segrè @asegre]

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).

[Ayellet Segrè @asegre]

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).

[Ayellet Segrè @asegre]

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 https://t.co/Kth8O68IhZ, proposed known and less well-established pathogenic cell types for POAG & IOP (4/6)

[Ayellet Segrè @asegre]

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).

[Harvard Ophthalmology @HMSeye]

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

[Madhura Shah @MadhuraShah2]

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!

[MCB_Harvard @MCB_Harvard]

The Eyes Have It [Sanes Lab] @monavarfeshani @asegre @hageman_gregory @PNASNews @harvardbrainsci https://t.co/sb5QKEAO0K

[Lappalainen Lab @tuuliel_lab]

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!

[Ayellet Segrè @asegre]

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

[Ayellet Segrè @asegre]

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