Evidence map›Paper›PMID 36550172›Full record

ReviewNPJ microgravity2022

Rare diseases and space health: optimizing synergies from scientific questions to care.

Maria Puscas, Gabrielle Martineau, Gurjot Bhella, Penelope E Bonnen, Phil Carr, Robyn Lim, John Mitchell, Matthew Osmond, Emmanuel Urquieta, Jaime Flamenbaum and 7 more

Abstract readReview
In one paragraph

Review in NPJ microgravity, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
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

17 authors.

Maria Puscas *Astronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of Canada, Longueil, Canada.ORCID http://orcid.org/0000-0002-5880-5157
Gabrielle Martineau *Astronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of Canada, Longueil, Canada.ORCID http://orcid.org/0000-0003-3980-4631
Gurjot BhellaAstronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of Canada, Longueil, Canada.
Penelope E BonnenMolecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Phil CarrThe Strategic Review Group Inc., Ottawa, Canada.
Robyn LimLegislative and Regulatory Modernization, Health Canada, Ottawa, Canada.
John MitchellPediatric Endocrinology and Biochemical Genetics, Montreal Children's Hospital-McGill University, Human Genetics and Pediatrics, McGill University, Montreal, Canada.ORCID http://orcid.org/0000-0002-6055-6858
Matthew OsmondChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Emmanuel UrquietaTranslational Research Institute for Space Health (TRISH) and Department of Emergency Medicine and Center for Space Medicine, Baylor College of Medicine, Houston, TX, USA.
Jaime FlamenbaumCanadian Institutes of Health Research Ethics Office, Ottawa, Canada.ORCID http://orcid.org/0000-0002-8473-5551
Giuseppe IariaDepartment of Psychology, Hotchkiss Brain Institute, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada.
Yann JolyCentre of Genomics and Policy, Faculty of Medicine, Human Genetics, McGill University, Montreal, Canada.
Étienne RicherCanadian Institutes of Health Research Institute of Genetics, Ottawa, Canada.ORCID http://orcid.org/0000-0002-5814-5777
Joan SaaryDepartment of Medicine, Division of Occupational Medicine, University of Toronto, Toronto, Canada.
David Saint-JacquesAstronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of Canada, Longueil, Canada.
Nicole BuckleyAstronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of Canada, Longueil, Canada. nicole.buckley@esa.int.
Etienne Low-DecarieAstronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of Canada, Longueil, Canada. etienne.decarie@gmail.com.ORCID http://orcid.org/0000-0002-0413-567X

Funding

Personalized Functional Genomics for Mitochondrial Encephalopathy Gene DiscoveryR01NS083726 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BONNEN, PENELOPE E · 2014 to 2025
$6.1M
NINDS NIH HHS R01 NS083726
6 · The paper itself

Abstract

Knowledge transfer among research disciplines can lead to substantial research progress. At first glance, astronaut health and rare diseases may be seen as having little common ground for such an exchange. However, deleterious health conditions linked to human space exploration may well be considered as a narrow sub-category of rare diseases. Here, we compare and contrast research and healthcare in the contexts of rare diseases and space health and identify common barriers and avenues of improvement. The prevalent genetic basis of most rare disorders contrasts sharply with the occupational considerations required to sustain human health in space. Nevertheless small sample sizes and large knowledge gaps in natural history are examples of the parallel challenges for research and clinical care in the context of both rare diseases and space health. The two areas also face the simultaneous challenges of evidence scarcity and the pressure to deliver therapeutic solutions, mandating expeditious translation of research knowledge into clinical care. Sharing best practices between these fields, including increasing participant involvement in all stages of research and ethical sharing of standardized data, has the potential to contribute to humankind's efforts to explore ever further into space while caring for people on Earth in a more inclusive fashion.

Identifiers

PMID36550172
PMCPMC9780351

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.