From target discovery to clinical drug development with human genetics

K Trajanoska, C Bhérer, D Taliun, S Zhou, JB Richards… - Nature, 2023 - nature.com
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …

Glaucomatous optic neuropathy: Mitochondrial dynamics, dysfunction and protection in retinal ganglion cells

WK Ju, GA Perkins, KY Kim, T Bastola, WY Choi… - Progress in Retinal and …, 2023 - Elsevier
Glaucoma is a leading cause of irreversible blindness worldwide and is characterized by a
slow, progressive, and multifactorial degeneration of retinal ganglion cells (RGCs) and their …

Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo… - Cell Genomics, 2022 - cell.com
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci

X Han, P Gharahkhani, AR Hamel, JS Ong… - Nature …, 2023 - nature.com
Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease.
Previous genome-wide association studies have identified over 100 loci for the most …

Core transcription programs controlling injury-induced neurodegeneration of retinal ganglion cells

F Tian, Y Cheng, S Zhou, Q Wang, A Monavarfeshani… - Neuron, 2022 - cell.com
Regulatory programs governing neuronal death and axon regeneration in
neurodegenerative diseases remain poorly understood. In adult mice, optic nerve crush …

Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types

T van Zyl, W Yan, AM McAdams… - Proceedings of the …, 2022 - National Acad Sciences
The anterior segment of the eye consists of the cornea, iris, ciliary body, crystalline lens, and
aqueous humor outflow pathways. Together, these tissues are essential for the proper …

[HTML][HTML] Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer

RE Mukamel, RE Handsaker, MA Sherman, AR Barton… - Cell, 2023 - cell.com
Many regions in the human genome vary in length among individuals due to variable
numbers of tandem repeats (VNTRs). To assess the phenotypic impact of VNTRs genome …

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

M Kanai, R Elzur, W Zhou, KHH Wu, H Rasheed… - Cell genomics, 2022 - cell.com
Meta-analysis is pervasively used to combine multiple genome-wide association studies
(GWASs). Fine-mapping of meta-analysis studies is typically performed as in a single-cohort …

Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

Y Wang, S Namba, E Lopera, S Kerminen, K Tsuo… - Cell Genomics, 2023 - cell.com
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However,
few studies have thoroughly investigated their best practices in global populations across …

Cellular crosstalk regulates the aqueous humor outflow pathway and provides new targets for glaucoma therapies

BR Thomson, P Liu, T Onay, J Du, SW Tompson… - Nature …, 2021 - nature.com
Primary congenital glaucoma (PCG) is a severe disease characterized by developmental
defects in the trabecular meshwork (TM) and Schlemm's canal (SC), comprising the …