Rare diseases and space health: optimizing synergies from scientific questions to care
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...
| Main Authors: | , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2022-12-01
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| Series: | npj Microgravity |
| Online Access: | https://doi.org/10.1038/s41526-022-00224-5 |
| _version_ | 1797641517520650240 |
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| author | Maria Puscas Gabrielle Martineau Gurjot Bhella Penelope E. Bonnen Phil Carr Robyn Lim John Mitchell Matthew Osmond Emmanuel Urquieta Jaime Flamenbaum Giuseppe Iaria Yann Joly Étienne Richer Joan Saary David Saint-Jacques Nicole Buckley Etienne Low-Decarie |
| author_facet | Maria Puscas Gabrielle Martineau Gurjot Bhella Penelope E. Bonnen Phil Carr Robyn Lim John Mitchell Matthew Osmond Emmanuel Urquieta Jaime Flamenbaum Giuseppe Iaria Yann Joly Étienne Richer Joan Saary David Saint-Jacques Nicole Buckley Etienne Low-Decarie |
| author_sort | Maria Puscas |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T13:46:48Z |
| format | Article |
| id | doaj.art-e82f3f5397a040718c9935e6d01afcb9 |
| institution | Directory Open Access Journal |
| issn | 2373-8065 |
| language | English |
| last_indexed | 2024-03-11T13:46:48Z |
| publishDate | 2022-12-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Microgravity |
| spelling | doaj.art-e82f3f5397a040718c9935e6d01afcb92023-11-02T10:20:22ZengNature Portfolionpj Microgravity2373-80652022-12-018111010.1038/s41526-022-00224-5Rare diseases and space health: optimizing synergies from scientific questions to careMaria Puscas0Gabrielle Martineau1Gurjot Bhella2Penelope E. Bonnen3Phil Carr4Robyn Lim5John Mitchell6Matthew Osmond7Emmanuel Urquieta8Jaime Flamenbaum9Giuseppe Iaria10Yann Joly11Étienne Richer12Joan Saary13David Saint-Jacques14Nicole Buckley15Etienne Low-Decarie16Astronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of CanadaAstronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of CanadaAstronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of CanadaMolecular and Human Genetics, Baylor College of MedicineThe Strategic Review Group Inc.Legislative and Regulatory Modernization, Health CanadaPediatric Endocrinology and Biochemical Genetics, Montreal Children’s Hospital-McGill University, Human Genetics and Pediatrics, McGill UniversityChildren’s Hospital of Eastern Ontario Research Institute, University of OttawaTranslational Research Institute for Space Health (TRISH) and Department of Emergency Medicine and Center for Space Medicine, Baylor College of MedicineCanadian Institutes of Health Research Ethics OfficeDepartment of Psychology, Hotchkiss Brain Institute, and Alberta Children’s Hospital Research Institute, University of CalgaryCentre of Genomics and Policy, Faculty of Medicine, Human Genetics, McGill UniversityCanadian Institutes of Health Research Institute of GeneticsDepartment of Medicine, Division of Occupational Medicine, University of TorontoAstronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of CanadaAstronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of CanadaAstronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of CanadaAbstract 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.https://doi.org/10.1038/s41526-022-00224-5 |
| spellingShingle | Maria Puscas Gabrielle Martineau Gurjot Bhella Penelope E. Bonnen Phil Carr Robyn Lim John Mitchell Matthew Osmond Emmanuel Urquieta Jaime Flamenbaum Giuseppe Iaria Yann Joly Étienne Richer Joan Saary David Saint-Jacques Nicole Buckley Etienne Low-Decarie Rare diseases and space health: optimizing synergies from scientific questions to care npj Microgravity |
| title | Rare diseases and space health: optimizing synergies from scientific questions to care |
| title_full | Rare diseases and space health: optimizing synergies from scientific questions to care |
| title_fullStr | Rare diseases and space health: optimizing synergies from scientific questions to care |
| title_full_unstemmed | Rare diseases and space health: optimizing synergies from scientific questions to care |
| title_short | Rare diseases and space health: optimizing synergies from scientific questions to care |
| title_sort | rare diseases and space health optimizing synergies from scientific questions to care |
| url | https://doi.org/10.1038/s41526-022-00224-5 |
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