From target discovery to clinical drug development with human genetics
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 …
decades were anticipated to result in many innovative therapies. Here we investigate the …
[HTML][HTML] Glaucomatous optic neuropathy: Mitochondrial dynamics, dysfunction and protection in retinal ganglion cells
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 …
slow, progressive, and multifactorial degeneration of retinal ganglion cells (RGCs) and their …
[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …
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 …
Previous genome-wide association studies have identified over 100 loci for the most …
Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types
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 …
aqueous humor outflow pathways. Together, these tissues are essential for the proper …
[PDF][PDF] Core transcription programs controlling injury-induced neurodegeneration of retinal ganglion cells
Regulatory programs governing neuronal death and axon regeneration in
neurodegenerative diseases remain poorly understood. In adult mice, optic nerve crush …
neurodegenerative diseases remain poorly understood. In adult mice, optic nerve crush …
[PDF][PDF] Meta-analysis fine-mapping is often miscalibrated at single-variant resolution
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 …
(GWASs). Fine-mapping of meta-analysis studies is typically performed as in a single-cohort …
Plasma metabolite profile for primary open-angle glaucoma in three US cohorts and the UK Biobank
Glaucoma is a progressive optic neuropathy and a leading cause of irreversible blindness
worldwide. Primary open-angle glaucoma is the most common form, and yet the etiology of …
worldwide. Primary open-angle glaucoma is the most common form, and yet the etiology of …
Cellular crosstalk regulates the aqueous humor outflow pathway and provides new targets for glaucoma therapies
Primary congenital glaucoma (PCG) is a severe disease characterized by developmental
defects in the trabecular meshwork (TM) and Schlemm's canal (SC), comprising the …
defects in the trabecular meshwork (TM) and Schlemm's canal (SC), comprising the …
[PDF][PDF] Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However,
few studies have thoroughly investigated their best practices in global populations across …
few studies have thoroughly investigated their best practices in global populations across …