Collaboration between AbbVie, Biogen and Pfizer creates world's largest browsable resource linking rare protein-coding genetic variants to human health and disease

The access to the world's largest browsable resource linking rare protein-coding genetic variants to human health and disease was launched through a genetic exome sequence analysis collaboration between AbbVie, Biogen Inc. and Pfizer. Managed by the Broad Institute of MIT and Harvard, the browser gives access to results from analyses of whole exome sequencing data from 300,000 UK Biobank research participants. These genetic data have been paired with detailed health information to create this browsable resource.

The collaboration between AbbVie, Biogen and Pfizer to make these data available highlights the importance of working together to advance science. The companies engaged with the Broad Institute for data processing and to conduct single variant and gene-based association testing with nearly 4,000 UK Biobank phenotypes to identify associations between distinct genes or genetic variants and disease. In line with the collaboration members' commitment to openness, these results can now be accessed freely via the new browser. This browser will enable scientists worldwide to explore and utilize the data for their respective areas of interest in accordance with UK Biobank's terms of use.

"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," said Professor Sir Rory Collins, UK Biobank Principal Investigator and Chief Executive. "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." "We are proud to be involved in this exciting project and believe the collected information will yield important insights for the global scientific community," said Anthony Philippakis, Chief Data Officer at the 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."

The UK Biobank whole exome sequencing data has been generated as part of the UK Biobank Exome Sequencing Consortium, formed in 2018, which, in addition to AbbVie, Biogen and Pfizer, includes additional industry partners, supporting a trend across the industry to collaborate in a precompetitive manner for generating the source data for an improved understanding of human biology and disease. 

About AbbVie

AbbVie's mission is to discover and deliver innovative medicines that solve serious health issues today and address the medical challenges of tomorrow. We strive to have a remarkable impact on people’s lives across several key therapeutic areas: immunology, oncology, neuroscience, eye care, virology, women’s health and gastroenterology, in addition to products and services across its Allergan Aesthetics portfolio.

About Biogen

At Biogen, our mission is clear: we are pioneers in neuroscience. Biogen discovers, develops and delivers worldwide innovative therapies for people living with serious neurological and neurodegenerative diseases as well as related therapeutic adjacencies. One of the world’s first global biotechnology companies, Biogen was founded in 1978 by Charles Weissmann, Heinz Schaller, Kenneth Murray and Nobel Prize winners Walter Gilbert and Phillip Sharp. Today Biogen has the leading portfolio of medicines to treat multiple sclerosis, has introduced the first approved treatment for spinal muscular atrophy, commercializes biosimilars of advanced biologics and is focused on advancing research programs in multiple sclerosis and neuroimmunology, Alzheimer’s disease and dementia, neuromuscular disorders, movement disorders, ophthalmology, neuropsychiatry, immunology, acute neurology and neuropathic pain.

About Pfizer: Breakthroughs That Change Patients’ Lives

At Pfizer, we apply science and our global resources to bring therapies to people that extend and significantly improve their lives. We strive to set the standard for quality, safety and value in the discovery, development and manufacture of health care products, including innovative medicines and vaccines. Every day, Pfizer colleagues work across developed and emerging markets to advance wellness, prevention, treatments and cures that challenge the most feared diseases of our time. Consistent with our responsibility as one of the world's premier innovative biopharmaceutical companies, we collaborate with health care providers, governments and local communities to support and expand access to reliable, affordable health care around the world. For more than 170 years, we have worked to make a difference for all who rely on us.

About the UK Biobank

UK Biobank is a large-scale biomedical database and research resource containing genetic, lifestyle and health information from half a million UK participants.

UK Biobank's database, which includes blood samples, heart and brain scans and genetic data of the 500,000 volunteer participants, is globally accessible to approved researchers who are undertaking health-related research that's in the public interest.

UK Biobank recruited 500,000 people aged between 40-69 years in 2006-2010 from across the UK. With their consent, they provided detailed information about their lifestyle and physical measures and had blood, urine and saliva samples collected and stored for future analysis.

UK Biobank's research resource is a major contributor in the advancement of modern medicine and treatment, enabling better understanding of the prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses - including cancer, heart diseases and stroke. Since the UK Biobank resource was opened for research use in April 2012, over 20,000 researchers from 90+ countries have been approved to use it and more than 2,000 peer-reviewed papers that used the resource have now been published.

UK Biobank is generously supported by its founding funders the Wellcome Trust and UK Medical Research Council, as well as the British Heart Foundation, Cancer Research UK, Department of Health, Northwest Regional Development Agency and Scottish Government. The organisation has over 150 dedicated members of staff, based in multiple locations across the UK.