Searchable Genetic Database Links Variants to Human Health and Disease

Three global pharmaceutical companies have collaborated to launch a comprehensive, browsable resource linking rare protein-coding genetic variants to human health and disease.¹

Abbvie, Biogen, and Pfizer have combined their genetic exome sequence analysis efforts to create the database, which is managed by the Broad Institute of Massachusetts Institute of Technology and Harvard. The resource allows access to whole exome sequencing data from 300,000 research participants in the UK Biobank, which were then linked with detailed health information to create the data resource.

“Human genetics has been foundational to understanding disease etiologies and is a first step to finding solutions to some of humanity’s most devastating diseases,” Sir Rory Collins, FMedSci, FRS, professor of medicine and epidemiology, University of Oxford, and principal investigator and chief executive, UK Biobank, said in a statement. “Our hope is that this information will allow researchers to better understand the human genome and identify therapeutic strategies that can specifically target the underlying causes of disease.” 

The Broad Institute provided data processing services and conducted single variant and gene-based association testing with almost 4000 phenotypes in the UK Biobank to identify associations between distinct genes or genetic variants and disease. 

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In an effort to promote broad collaboration, the browser can be freely used and accessed by researchers worldwide to explore and utilize the data in a variety of areas of interest.

The UK Biobank database, consisting of the whole exome sequencing data, was generated as part of the UK Biobank Exome Sequencing Consortium formed in 2018. The 3 companies, in addition to other industry partners, are a part of the consortium. The consortium’s aim is to similarly support collaboration in a precompetitive manner for generating source data for an improved understanding of human biology and disease. 

“We are proud to be involved in this exciting project and believe the collected information will yield important insights for the global scientific community,” added Anthony Philippakis, MD, PhD, chief data officer, Broad Institute. “By combining the expertise of the healthcare industry and the non-profit research community, we can carefully assess how biomedical data at this unprecedented scale is best utilized and hopefully accelerate the path from genetic discoveries towards novel therapeutics.”

Furthering efforts to build upon and optimize genetic-based therapeutic approaches, Biogen recently collaborated with Capsigen to develop novel adeno-associated viral (AAV) capsids to deliver gene therapies for the treatment of various central nervous system and neuromuscular disorders.² That partnership aims to combine Capsigen’s experience in capsid engineering with Biogen’s therapeutic development capabilities to accelerate delivery of gene therapies via novel capsids designed to meet highly customized, disease-specific transduction profiles.

“Through this collaboration, we aim to solve key technological challenges in the delivery of gene therapies to target tissues. One of our priorities for technology innovation is the discovery of AAV capsids with improved delivery profiles,” said Alfred Sandrock Jr, MD, PhD, head of research and development, Biogen, in a statement at the time. “We are investing for the long-term by building platform capabilities and advanced manufacturing technologies with the goal of accelerating our efforts in gene therapy.”

REFERENCES

1. Collaboration between Abbvie, Biogen and Pfizer creates world's largest browsable resource linking rare protein-coding genetic variants to human health and disease. News release. July 8, 2021. Pfizer. https://www.pfizer.com/news/press-release/press-release-detail/collaboration-between-abbvie-biogen-and-pfizer-creates-0
2. Biogen and Capsigen announce collaboration to discover and develop novel AAV capsids for targeted CNS and neuromuscular disorders. News release. May 10, 2021. Accessed May 11, 2021. https://www.globenewswire.com/news-release/2021/05/10/2226674/0/en/Biogen-and-Capsigen-Announce-Collaboration-to-Discover-and-Develop-Novel-AAV-Capsids-for-Targeted-CNS-and-Neuromuscular-Disorders.html