Kyungpook National University Hospital and KAIST Joint Research Team Track Human Embryo Development Process Based on Genomics

Publication in the Online Edition of the International Academic Journal 'Nature'

[Asia Economy Yeongnam Reporting Headquarters Reporter Dongguk Lee] Professor Ji-won Oh of the Institute of Biomedical Science at Kyungpook National University Hospital and Professor Young-seok Joo of the Graduate School of Medical Science and Engineering at KAIST announced on the 26th that they have succeeded in elucidating the human developmental process using whole-genome sequencing technology through joint research.

This study is a groundbreaking large-scale research result that proves how a small number of cells present in human embryos compose the total 40 trillion cells in the human body and when each differentiates into respective organs.

From the left, Professor Ju-Young Seok of KAIST, Professor Oh Ji-Won of Kyungpook National University Hospital = Provided by Kyungpook National University Hospital

Revealing the principles of human development, where a single fertilized egg creates various organs of the human body, has been a fundamental question in biomedical science, but proving this inevitably involved the destruction of embryos.

Therefore, until now, embryonic development research has been conducted using animal models such as Caenorhabditis elegans (C. elegans), fruit flies, and mice.

To overcome this, the research team focused on DNA mutations and discovered that random mutations accumulate in cells during the cell division process of the fertilized egg.

Since these mutations are also transmitted to descendant cells in adults, they concluded that by systematically analyzing the DNA mutations of single cells distributed throughout the body as cellular barcodes, it is possible to reconstruct the movements of embryonic cells.

Based on this, they received a total of 334 single cells and 379 tissues from seven donated cadavers and conducted the world's largest-scale single-cell whole-genome analysis.

From this study, the team succeeded in elucidating phenomena occurring during human embryonic development and discovered that cells within the embryo are not equal from the early stages of development.

This research clearly demonstrated that it is possible to track the early human embryonic development process ethically using whole-genome big data.

By applying this, it will be possible to reconstruct the movements of cells appearing during the developmental process for each individual, which is expected to contribute to the prevention, screening, and precision treatment system construction of rare diseases arising during development in the future.

Schematic diagram of uneven cell distribution observed during embryonic development = Provided by Kyungpook National University Hospital

Professor Ji-won Oh of the Institute of Biomedical Science at Kyungpook National University Hospital said, “This is an astonishing study proving that the first moment of human life can be elucidated from a body that has reached death, and this research would have been impossible without the noble spirit of sacrifice of those who donated their bodies.”

Professor Young-seok Joo of KAIST said, “This is a great achievement in genome technology that has advanced enough to accurately identify mutations present in single-cell genomes 20 years after the completion of the Human Genome Project,” adding, “Based on technological innovation, it will be possible to continuously track human embryonic development at even higher resolution in the future.”

This research was conducted with support from the Ministry of Health and Welfare’s World Leading Medical Scientist Fostering Project, the Seokyeongbae Science Foundation, and the National Research Foundation of Korea (Leader Project, Excellent New Researcher, Regional University Excellent Scientist, Leading Research Center).

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