Humans: the ultimate animal models

Reilly, Mary M.

doi:10.1136/jnnp-2020-323016

Cited by 10 publications

(13 citation statements)

References 35 publications

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“…The selection of the most suitable in vivo model depends on the goal, for instance, whether human or environmental immunosafety are concerned or whether the effects on innate or adaptive immunity are the focus. We all agree that humans are the best model for human health [54,55], as well expressed by Sydney Brenner: "We don't have to look for a model organism anymore. Because we are the model organisms" [56].…”

Section: Selecting the In Vivo Nanoimmunosafety Modelmentioning

confidence: 91%

In Vitro and In Vivo Models to Assess the Immune-Related Effects of Nanomaterials

Boraschi

et al. 2021

IJERPH

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The immunological safety of drugs, nanomaterials and contaminants is a central point in the regulatory evaluation and safety monitoring of working and public places and of the environment. In fact, anomalies in immune responses may cause diseases and hamper the physical and functional integrity of living organisms, from plants to human beings. In the case of nanomaterials, many experimental models are used for assessing their immunosafety, some of which have been adopted by regulatory bodies. All of them, however, suffer from shortcomings and approximations, and may be inaccurate in representing real-life responses, thereby leading to incomplete, incorrect or even misleading predictions. Here, we review the advantages and disadvantages of current nanoimmunosafety models, comparing in vivo vs. in vitro models and examining the use of animal vs. human cells, primary vs. transformed cells, complex multicellular and 3D models, organoids and organs-on-chip, in view of implementing a reliable and personalized nanoimmunosafety testing. The general conclusion is that the choice of testing models is key for obtaining reliable predictive information, and therefore special attention should be devoted to selecting the most relevant and realistic suite of models in order to generate relevant information that can allow for safer-by-design nanotechnological developments.

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Section: Selecting the In Vivo Nanoimmunosafety Modelmentioning

confidence: 91%

In Vitro and In Vivo Models to Assess the Immune-Related Effects of Nanomaterials

Boraschi

et al. 2021

IJERPH

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“…To this end, it must be highlighted that this approach was fully dependent on the ability of the investigators to retrospectively identify well-characterized cohorts of unrelated patients, the product of years of careful phenotyping in outpatient clinics, providing support for the notion that humans are indeed the ultimate animal model of human diseases. 10 Furthermore, it is worth noting that over a quarter of the patients discovered to harbour the RFC1 intronic expansion in this study had previously received an alternative and often-assumed acquired diagnosis. This emphasizes the need to always consider potential underlying genetic causes and factors when assessing patients who present with subacute symptoms, even when no other affected family members are reported, and especially taking into account autosomal recessive inheritance and the phenomenon of incomplete penetrance.…”

mentioning

confidence: 86%

Removing the idiopathic from the chronic sensory neuropathies

Roberts

2021

Brain

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“…Limited epidemiological data is available for Africa. A community-based study from Egypt estimated CMT prevalence to be 12 per 100,000 ( 3 , 41 , 42 ).…”

Section: Paediatric Nmd In the South African Populationsmentioning

confidence: 99%

A case for genomic medicine in South African paediatric patients with neuromuscular disease

et al. 2022

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Paediatric neuromuscular diseases are under-recognised and under-diagnosed in Africa, especially those of genetic origin. This may be attributable to various factors, inclusive of socioeconomic barriers, high burden of communicable and non-communicable diseases, resource constraints, lack of expertise in specialised fields and paucity of genetic testing facilities and biobanks in the African population, making access to and interpretation of results more challenging. As new treatments become available that are effective for specific sub-phenotypes, it is even more important to confirm a genetic diagnosis for affected children to be eligible for drug trials and potential treatments. This perspective article aims to create awareness of the major neuromuscular diseases clinically diagnosed in the South African paediatric populations, as well as the current challenges and possible solutions. With this in mind, we introduce a multi-centred research platform (ICGNMD), which aims to address the limited knowledge on NMD aetiology and to improve genetic diagnostic capacities in South African and other African populations.

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Humans: the ultimate animal models

Cited by 10 publications

References 35 publications

In Vitro and In Vivo Models to Assess the Immune-Related Effects of Nanomaterials

In Vitro and In Vivo Models to Assess the Immune-Related Effects of Nanomaterials

Removing the idiopathic from the chronic sensory neuropathies

A case for genomic medicine in South African paediatric patients with neuromuscular disease

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