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Genome and Epigenome Analysis of Circulating Free DNA and RNA-based Liquid Biopsy (Liquid_Biopsy)
Principal Investigator
Research Area:
Species Studied
Scientific Name: Homo sapiens Species: Human

Unlike conventional bulk DNA profiling from blood which mainly observes blood cells, cell-free DNA (cfDNA) and cyanine RNA (cRNA) profiling detects cellular status of internal body without invasive operation. This is because cfDNA and cRNA represent genetic and epigenetic information released from cells in tissue. When cells are damaged or targeted by immune system, the original cellular DNA and RNA are thought to be released into circulating blood flow. Therefore, cfDNA and cRNA profiling can be used as “liquid biopsy” to assess cellular status and integrity of tissue inside the body.

Investigators will compare cfDNA and cRNA profile among samples collected on the earth and during space flight. The results should provide key information including (i) low-frequency gene mutation events in internal tissue cells, (ii) cellular origin of cfDNA which represents sites of cellular damage or excessive tissue turnover by alteration of stem cell activity or cell death, and (iii) cRNA expression profile to screen gene-specific biomarker of stress response. Direct sequencing of cfDNA by ultra-high-throughput sequencing could detect mutations in DNA. DNA mutation rate will be a reliable indicator of genetic damage by space radiation in the human body under normal DNA repair function. Investigators will also perform detection and quantification of epigenetic modification (methylation) of cfDNA. Since methylation pattern of DNA is specific for cell types, this information will be used to identify the cellular origin of cfDNA. cRNA expression profile indicates cellular pathways that respond against environmental stress. If there are any genes specifically up or down-regulated during flight, these genes could be important to enhance environmental tolerance. Such genes may be targets for drug development or specific biomarker candidates.

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Gene expression profiling

Data Information
Data Availability
Archiving in progress. Data is not yet available for this experiment.

Cyanine RNA (cRNA) expression profile
DNA methylation analysis
DNA mutation analysis
Genome sequencing

Mission/Study Information
Mission Launch/Start Date Landing/End Date Duration
Expedition 54 12/14/2017 02/27/2018 75 days
Expedition 55 02/27/2018 06/03/2018 96 days
Expedition 56 06/03/2018 10/04/2018 123 days
Expedition 57 10/04/2018 12/20/2018 77 days
Expedition 58 12/18/2018 03/14/2019 85 days
Expedition 59 03/14/2019 06/24/2019 102 days

Additional Information
Managing NASA Center
Johnson Space Center (JSC)
Responsible NASA Representative
Johnson Space Center LSDA Office
Project Manager: Pamela A. Bieri
Institutional Support
Japan Aerospace Exploration Agency (JAXA)
Alternate Experiment Name
Cell-free Epigenome
Proposal Date
Proposal Source