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 👇
https://t.co/T3umtDOaqx @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: https://t.co/VWN0SX6a0f. @HMSeye
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 https://t.co/Kth8O68IhZ, 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 https://t.co/Kth8O68IhZ, 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).
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!
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