The paper uses iPSC-derived RPE cells to compare molecular differences between AMD with and without reticular pseudodrusen, identifying distinct pathways and genetic influences.

Genome Medicine · May 9, 2026Peer-reviewedGenetics

Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration: HTRA1/lncRNA BX842242.1 dominates, with no evidence for Complement Cascade involvement

Samaneh Farashi, Carla J. Abbott, Brendan R. E. Ansell, Zhichao Wu, Lebriz Altay, Ella Arnon, Louis Arnould, Yelena Bagdasarova, Konstantinos Balaskas, Fred Kuanfu Chen, Emily Y. Chew, Itay Chowers, Steven Clarke, Catherine A. Cukras, Cécile Delcourt, , Melanie Bahlo

Nature Communications · Dec 8, 2025Peer-reviewedGenetic & Genomic Medicine

Distinctive cross-ancestry genetic architecture for age-related macular degeneration

Bryan R. Gorman, Georgios Voloudakis, Robert P. Igo, Tyler G. Kinzy, Christopher W. Halladay, Tim B. Bigdeli, Biao Zeng, Sanan Venkatesh, Jessica N. Cooke Bailey, Dana C. Crawford, Kyriacos Markianos, Frederick N. Dong, Patrick A. Schreiner, Wen Zhang, VA Million Veteran Program, , Srinivas V. Goverdhan

This study identifies 63 AMD risk loci across multiple ancestries, highlighting ancestry-dependent genetic heterogeneity and potential therapeutic targets.

Nature Genetics · Dec 1, 2024Peer-reviewedGenetic & Genomic Medicine

Defining an Ageing-Related Pathology, Disease or Syndrome: International Consensus Statement

Emma L. Short, ICCARP, Ian Michael Adcock, Bilal Al-Sarireh, Ann Ager, Ramzi Ajjan, Naveed Akbar, Michael A. Akeroyd, Ghada Alsaleh, Ghada Al-Sharbatee, Kambiz N. Alavian, Winfried Amoaku, Julie Andersen, Chrystalina A. Antoniades, Mark J. Arends, , Werner Kempf

The paper establishes international consensus criteria to classify ageing-related pathologies, diseases, and syndromes based on age progression, functional decline, and human evidence.

GeroScience · Sep 21, 2024Peer-reviewedGenetic & Genomic Medicine

Knockout of AMD-associated gene POLDIP2 reduces mitochondrial superoxide in human retinal pigment epithelial cells

Tu Nguyen, Daniel Urrutia-Cabrera, Luozixian Wang, Jarmon G. Lees, Jiang-Hui Wang, Sandy S. C. Hung, Alex William Hewitt, Thomas L. Edwards, Samuel McLenachan, Fred Kuanfu Chen, Shiang Yong Lim, Chi D. Luu, Robyn H. Guymer, Raymond C.B. Wong

This study shows that knocking out POLDIP2 in human RPE cells reduces mitochondrial superoxide levels, linking POLDIP2 to oxidative stress in AMD.

Aging · Feb 16, 2023Peer-reviewedNeuroscience

Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration.

Anne Senabouth, Maciej Daniszewski, Grace E. Lidgerwood, Helena Hai Liang, Damián Hernández, Mehdi Mirzaei, Stacey N. Keenan, Ran Zhang, Xikun Han, Drew R. Neavin, Louise A. Rooney, Maria Isabel G. Lopez Sanchez, Lerna M. Gulluyan, João A. Paulo, Linda Clarke, , Alice Pébay

This study identifies genetic and molecular differences in RPE cells from geographic atrophy patients compared to controls using transcriptomic and proteomic analyses.

Nature Communications · Jul 26, 2022Peer-reviewedNeuroscience