Genetics and Functional Genomics of Complex Diseases
Assistant Professor, Mass Eye and Ear, H…
Joined August 2010
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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.
Ayellet Segrè retweeted
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
Ayellet Segrè retweeted
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
ALT Ayellet Segrè, PhD, genetic biostatistician at Mass Eye and Ear
Ayellet Segrè retweeted
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/scit…
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
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!
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).
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)
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).
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).
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)
Ayellet Segrè retweeted
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
Ayellet Segrè retweeted
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!
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
Ayellet Segrè retweeted
The Eyes Have It [Sanes Lab] @monavarfeshani @asegre @hageman_gregory @PNASNews @harvardbrainsci mcb.harvard.edu/department/n…
Ayellet Segrè retweeted
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!
🚨Our work on multi-modal, single-cell pooled CRISPR screens to study GWAS variant-to-function, STING-seq, is now out in @ScienceMagazine! Read on for 6⃣ of the main findings from our study, led by myself and co-advised by @nevillesanjana and @tuuliel! 🎉
science.org/doi/10.1126/scie…
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 retweeted
Today's #WomenInScience profile highlights Ayellet Segrè (@asegre) & her lab! Their #research centers on common eye diseases, such as age-related macular degeneration, glaucoma and diabetic retinopathy #phdchat #AcademicTwitter
Click for more!
asegrelab.org/
Ayellet Segrè retweeted
Scientists from @broadinstitute have developed a first-of-its-kind cross-tissue cell atlas, and in collaboration with Mass Eye and Ear researchers led by Ayellet Segrè, PhD, have uncovered new clues for cell types and genes involved in complex diseases. masseyeandear.org/news/press…