• Text in Japanese

Loreal Japan, part of the Loreal Group based in Paris, announced the 4 winners of its 15th Loreal-UNESCO Awards for Japanese Women in Science. Among them was Osaka University Assistant Professor Saori Sakaue, who won one of the two awards given to scientists in the life sciences.

Dr. Sakaue, an expert in statistical genetics, was recognized for her work on large-scale genomic analysis of the Japanese population, which revealed genomic diversity in the Japanese population, and the implementation of novel statistical methods for the identification of biomarkers driving human health and disease.

The award is designed to promote more women in science, as they currently make up only 29% of scientists worldwide. Moreover, women make up only 1% of senior scientific positions and just 3% of Nobel Prizes winners. In Japan, the number of female scientists is 155 000. While that number has been increasing, it still makes up just 16% of total scientists in the country, which is below the global average.

Loreal Japan and the Japanese National Commission for UNESCO founded the award in 2005. Annual winners have conducted research recognized worldwide and are also celebrated for building an impressive career while encountering various life events.

【Dr. Sakaue’s research: Large-scale genomic analysis towards clinical applications】

The human genome is the blueprint for human life built from only 4 nucleotides, ATCG, into a long chain consisting of more than 3 billion nucleotides. Since the first common ancestor of homo sapiens, the genome has been passed to offspring and undergone constant change to result in the diversity of human life that exists today.

The Human Genome Project describes the great effort by many scientists around the world to decode the entire human genome. The project was completed in 2001. Researchers have since used genome analysis techniques to study the health implications of the code. With the cost of these techniques dramatically decreasing over the past 20 years, it is becoming more and more feasible to investigate the effects individual mutations have on disease development in millions of people.

One might have expected that the complete human genome sequence would bring us clear understanding of human diseases, but the relationship has proven more complicated than first expected. One of the biggest challenges is identifying the mechanism through which genome information translates into disease. To overcome this obstacle, Dr. Sakaue has authored several papers in the past couple of years.

One study published in Nature Medicine (2020) showed that polygenic risks scores revealed that blood pressure and obesity might be the drivers of the lifespans of individuals in different geographical populations. Another study published in Nature Communications (2020) used dimensionality reduction in the genome analysis to identify Japanese subpopulations, which had a non-negligible impact on disease prediction. She also developed a software to integrate genomic data and miRNA expressions for understanding the tissue-specific contribution of miRNAs in the pathogenesis of human diseases (Nucleic Acids Research 2018), and a computer program named “Genome for REPositioning drugs (GREP)”, which used genome information to identify candidate drugs for repositioning (Bioinformatics 2019).

These studies all provide novel ways to use genome information for eventual clinical application.

http://www.med.osaka-u.ac.jp/eng/activities/results/2020year/okada20200324
http://www.med.osaka-u.ac.jp/eng/activities/results/2020year/okadasakaue20200327

【Dr. Sakaue’s comment】 

Until I entered graduate school, I enjoyed being a medical doctor and was not sure I am fit for becoming a researcher. However, once I encountered human genome research, I become enthusiastic about the depth and breadth of this field. Personalize medicine through individual genomic data is becoming a reality, and we are just beginning to realize the possibilities of integrating data with new experimental techniques. I’m so grateful to have won this award. There were many times that the research was a struggle, but my colleagues and my mentors were always there to support me. I hope there will be a time when I can give back the favour.