Evidence map›Paper›PMID 26329332›Full record

ReviewOrphanet journal of rare diseases2015

Large animal models of rare genetic disorders: sheep as phenotypically relevant models of human genetic disease.

Ashish R Pinnapureddy, Cherie Stayner, John McEwan, Olivia Baddeley, John Forman, Michael R Eccles

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.

0numbers the graph read from it
0cells of the map it votes in
35citing 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

35 citing papers in PubMed.

  1. Review
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  4. Article
  5. Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Review
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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

6 authors.

Ashish R PinnapureddyDepartment of Pathology, Dunedin School of Medicine, University of Otago, P.O. Box 913, Dunedin, 9054, New Zealand. pinas267@student.otago.ac.nz.
Cherie StaynerDepartment of Pathology, Dunedin School of Medicine, University of Otago, P.O. Box 913, Dunedin, 9054, New Zealand. cherie.stayner@otago.ac.nz.
John McEwanAgResearch, Invermay Agricultural Centre, Mosgiel, New Zealand. john.mcewan@agresearch.co.nz.
Olivia BaddeleyNew Zealand Organisation for Rare Disorders, Wellington, New Zealand. olivia.baddeley@nzord.org.nz.
John FormanNew Zealand Organisation for Rare Disorders, Wellington, New Zealand. john@johnforman.nz.
Michael R EcclesDepartment of Pathology, Dunedin School of Medicine, University of Otago, P.O. Box 913, Dunedin, 9054, New Zealand. michael.eccles@otago.ac.nz.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Animals that accurately model human disease are invaluable in medical research, allowing a critical understanding of disease mechanisms, and the opportunity to evaluate the effect of therapeutic compounds in pre-clinical studies. Many types of animal models are used world-wide, with the most common being small laboratory animals, such as mice. However, rodents often do not faithfully replicate human disease, despite their predominant use in research. This discordancy is due in part to physiological differences, such as body size and longevity. In contrast, large animal models, including sheep, provide an alternative to mice for biomedical research due to their greater physiological parallels with humans. Completion of the full genome sequences of many species, and the advent of Next Generation Sequencing (NGS) technologies, means it is now feasible to screen large populations of domesticated animals for genetic variants that resemble human genetic diseases, and generate models that more accurately model rare human pathologies. In this review, we discuss the notion of using sheep as large animal models, and their advantages in modelling human genetic disease. We exemplify several existing naturally occurring ovine variants in genes that are orthologous to human disease genes, such as the Cln6 sheep model for Batten disease. These, and other sheep models, have contributed significantly to our understanding of the relevant human disease process, in addition to providing opportunities to trial new therapies in animals with similar body and organ size to humans. Therefore sheep are a significant species with respect to the modelling of rare genetic human disease, which we summarize in this review.

Indexed as

Disease Models, AnimalPhenotypeAnimalsHigh-Throughput Nucleotide SequencingHumansRare DiseasesSheep

Identifiers

PMID26329332
PMCPMC4557632

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.