Yusuke Nakamura, President of NIBN, Receives the American Society of Human Genetics (ASHG) Lifetime Achievement Award — First Japanese Recipient Honored for Contributions Including the Development of VNTR Markers and the Establishment of a Global Foundation for Precision Medicine —

Yusuke Nakamura, President of the National Institutes of Biomedical Innovation, Health and Nutrition (NIBN), has received the Lifetime Achievement Award from the American Society of Human Genetics (ASHG).

Founded in 1948, the American Society of Human Genetics is the world’s largest professional organization dedicated to human genetics and genomics. Since 1962, ASHG has recognized outstanding achievements in the field of genetics through its awards program.

The ASHG Lifetime Achievement Award, formerly known as the William Allan Award, honors individuals who have made broad and significant scientific contributions through sustained scientific inquiry in human genetics.

President Nakamura is the first Japanese recipient of this prestigious award. His contributions, including the development of variable number tandem repeat (VNTR) markers and the establishment of a global foundation for precision medicine, were highly recognized.

ASHG Website: American Society of Human Genetics

Contribution Recognized by the ASHG Lifetime Achievement Award

Beginning with the development of markers for variable number tandem repeats (VNTRs), which helped usher in the era of positional cloning, Dr. Nakamura has repeatedly expanded the possibilities of human genetics and genomic research, including through the identification of disease-causing genes and the elucidation of the genetic basis of cancer.

His groundbreaking contributions to APC and the genetics of colorectal cancer made a major contribution to the development of modern molecular oncology. His research on hereditary diseases and complex traits has also deepened our understanding of how genetic variation influences human health.

Through his leadership in the International HapMap Project, his pioneering work in the early days of genome-wide association studies (GWAS), and the establishment of Biobank Japan, Dr. Nakamura also contributed to building a global foundation for precision medicine.

As a scientist, mentor, and visionary leader, Dr. Nakamura’s legacy continues to inspire discovery and contribute to improving human health around the world.

Key Terms

1. Variable Number Tandem Repeat (VNTR)

A variable number tandem repeat (VNTR) is a region of DNA in which the same short DNA sequence, typically consisting of approximately 10–100 nucleotides, is repeated consecutively. The number of repeats can vary considerably among individuals. By analyzing VNTRs in multiple regions of the genome, they can be used for genetic mapping, DNA identification, and paternity testing.

2. APC

APC is a key tumor suppressor gene that plays a central role in preventing the development of colorectal cancer at its earliest stages.

3. International HapMap Project

The International HapMap Project was an international collaborative project launched in 2002 to create a map of haplotypes (the “HapMap”) representing common patterns of human genetic variation.

Humans have numerous single nucleotide polymorphisms (SNPs), which contribute to differences among individuals. SNPs tend to be inherited together with nearby SNPs. By systematically mapping the distribution and combinations of these sets of inherited SNPs, known as haplotypes, across the genome, the project established an important foundation for subsequent genetic research.

4. Genome-Wide Association Study (GWAS)

A genome-wide association study (GWAS) is a research method used to identify genomic regions associated with diseases or other traits by comparing large numbers of genetic variants distributed throughout the genome.

Specifically, GWAS analyzes SNPs in large numbers of individuals and statistically examines differences in their frequencies between people with and without a particular disease or trait to identify associated genomic regions. The development of the HapMap made it possible to conduct such analyses more efficiently.

About the National Institutes of Biomedical Innovation, Health and Nutrition (NIBN)

The National Institutes of Biomedical Innovation, Health and Nutrition (NIBN) was established on April 1, 2015, through the integration of the National Institute of Biomedical Innovation and the National Institute of Health and Nutrition.

NIBN conducts a broad range of research spanning medical science to health science. As a National Research and Development Agency, NIBN aims to maximize the outcomes of research and development activities and thereby contribute to the sound development of the national economy and other areas of public benefit through the advancement of Japan’s scientific and technological capabilities.

NIBN Website:The National Institutes of Biomedical Innovation, Health and Nutrition