Illumina and Lundbeck Foundation Centre for GeoGenetics Partner to Decode the Genetic Origins of Mental Health Disorders

On March 26, 2019, Illumina announced a collaboration with the Lundbeck Foundation Centre for GeoGenetics at the University of Copenhagen in Denmark to jointly investigate the relationship between the evolutionary history of certain psychiatric and neurological disorders and infectious pathogens. As the first project of its kind globally, it aims to uncover novel insights into the unique factors that have driven the evolution of human neuropsychiatric diseases throughout history, from medical and biological perspectives. Ultimately, this project is expected to provide a new approach for the development of therapeutic drugs and other treatment modalities for psychiatric and neurological disorders.

Where Do Brain Diseases Originate? To reveal the role microbes play in the pathogenesis of neuropsychiatric disorders such as Alzheimer’s disease and schizophrenia, Professor Eske Willerslev and his international research team will map the complete DNA profiles of thousands of ancient Eurasian remains, thereby constructing one of the largest genomic datasets globally. They will extract data from the bones and teeth of these remains, with the oldest samples dating back more than 10,000 years.

This multidisciplinary research team brings together experts from diverse fields, including paleogenomics, neurogenetics, population genetics, archaeology, linguistics, and brain health, to construct two unique genomic data panels. The first panel encompasses 5,000 ancient human genomes, while the second includes ancient pathogen DNA associated with human diseases. Both panels will be publicly released to facilitate in-depth research into the evolution of disease-related variants and their interactions with the human genome and pathogens. This project aims to build and analyze the largest panels of ancient human and pathogen genomes to date.

Professor Willerslev, a Cambridge University professor and recipient of the Prince Philip Professorship, as well as a Lundbeck Foundation Professor at the University of Copenhagen, stated: “Over the past 10,000 years of history, human lifestyles have undergone many significant changes.” Following the transition from the hunter-gatherer era to the agricultural era, human diets and settlement patterns changed. As living environments shifted, so did the risk of infection by environmental pathogenic microorganisms. Substantial research evidence indicates that chronic viral, bacterial, and fungal infections may also trigger neuropsychiatric disorders.

“Therefore, we have every reason to believe that by analyzing DNA from that period, we can uncover trends in disease progression, enabling us to construct entirely new open-access reference datasets and thereby enhance the understanding of disease progression in both the scientific research and healthcare sectors,” he continued.

To decode the genetic origins and evolutionary processes of human diseases, Professor Willerslev and his team will employ Illumina’s most powerful sequencing instrument—the NovaSeq™ 6000 System—in their research. Specially designed to open new horizons for scaling up experiments and enhancing experimental stability, this system’s high-throughput capabilities provide robust support for large-scale cohort studies. Such large-scale projects will benefit from improved analysis speed, throughput, and data quality; therefore, the project will utilize S4 flow cells to increase sequencing throughput to as many as 20 billion ancient human DNA fragments every two days.

“The NovaSeq 6000 offers unparalleled data quality and high-throughput advantages, making it the ideal choice for this project,” added Professor Willerslev. “Although we had conceived of this project to investigate the genetic origins of hereditary diseases many years ago, it remained an unattainable vision until the launch of Illumina’s NovaSeq system. We are delighted that the Lundbeck Foundation foresaw the significance of our project with such far-sightedness, and that Illumina’s technology has enabled the implementation of this research.”

“If we can uncover new insights by tracing DNA over the past 10,000 years to understand when and under what environmental conditions genes associated with brain disorders were introduced into the human genome, this would constitute an invaluable research achievement. This project can provide profound insights into patients with mental illnesses, holding promise for facilitating the development of future gene therapies and precision medicine products.” Paula Dowdy, Senior Vice President and General Manager for Europe, Middle East, and Africa at Illumina, stated, “This will be a remarkably significant study.”