Evidence map›Paper›PMID 33499292›Full record

ReviewGenes2021

From Transcriptomics to Treatment in Inherited Optic Neuropathies.

Michael James Gilhooley, Nicholas Owen, Mariya Moosajee, Patrick Yu Wai Man

Abstract readReview
In one paragraph

Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Rhesus macaques with anProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  2. Review
  3. Article
  4. Article
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Michael James GilhooleyInstitute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK.ORCID 0000-0003-4109-5336
Nicholas OwenInstitute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK.ORCID 0000-0001-5598-6274
Mariya MoosajeeInstitute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK.ORCID 0000-0003-1688-5360
Patrick Yu Wai ManInstitute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK.

Funding

Department of HealthMedical Research Council G0701386Medical Research Council G1002570Wellcome Trust 205174/Z/16/Z
6 · The paper itself

Abstract

Inherited optic neuropathies, including Leber Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), are monogenetic diseases with a final common pathway of mitochondrial dysfunction leading to retinal ganglion cell (RGC) death and ultimately loss of vision. They are, therefore, excellent models with which to investigate this ubiquitous disease process-implicated in both common polygenetic ocular diseases (e.g., Glaucoma) and late-onset central nervous system neurodegenerative diseases (e.g., Parkinson disease). In recent years, cellular and animal models of LHON and DOA have matured in parallel with techniques (such as RNA-seq) to determine and analyze the transcriptomes of affected cells. This confluence leaves us at a particularly exciting time with the potential for the identification of novel pathogenic players and therapeutic targets. Here, we present a discussion of the importance of inherited optic neuropathies and how transcriptomic techniques can be exploited in the development of novel mutation-independent, neuroprotective therapies.

Indexed as

Genetic Predisposition to DiseaseTranscriptomeAllelesAnimalsDisease ManagementGene Expression ProfilingGenetic Association StudiesGenetic TherapyGenotypeHumansMutationOptic Atrophies, HereditaryPhenotypeDOAgene-therapyLHONmitochondrialneuroprotectionOPA1optic neuropathiesRNA-seqtranscriptomics

Identifiers

PMID33499292
PMCPMC7912133

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.