Regeneron and UK Biobank have announced that a vast tranche of new human sequencing data is now available to health researchers, offering an unprecedented ‘Big Data’ resource to enhance understanding of human biology and aid in therapeutic discovery.
Regeneron Pharmaceuticals was founded in 1988 and is located in Tarrytown, New York City. It is a leading biotechnology company that invents life-transforming medicines for people with serious diseases. Founded and still led by physician-scientists, with a unique ability to repeatedly and consistently translate science into medicine, which has resulted in seven FDA-approved treatments and numerous product candidates in development, all of which were homegrown in Regeneron’s laboratories. The approved products and development pipeline are designed to help patients with eye diseases, allergic and inflammatory diseases, cancer, cardiovascular and metabolic diseases, neuromuscular diseases, infectious diseases and rare diseases.
The exome sequence data of 50,000 UK Biobank participants were generated at the Regeneron Genetics Center (RGC) through a collaboration between UK Biobank, Regeneron and GlaxoSmithKline (GSK) and are linked to detailed de-identified health records, imaging and other health-related data. Regeneron is also leading a consortium of biopharma companies (including Abbvie, Alnylam, AstraZeneca, Bristol-Myers Squibb, Biogen, Pfizer and Takeda) to complete exome sequencing of the remaining 450,000 UK Biobank participants by 2020.
Researchers from Regeneron and GSK also released a preprint of a manuscript describing their findings from examination of the first 50,000 exomes. Key findings included novel loss of function associations with large effects on disease risk, including between PIEZO1 and varicose veins, MEPE and bone mineral density and osteoporosis, COL6A1 and ocular traits, and IQGAP2 and GMPR associated with blood cell traits. The researchers also explored population-based genetic risk for a number of important diseases, such as BRCA1- and BRCA2-associated cancers.
Consistent with the founding principles of UK Biobank, the first tranche of data has now been incorporated back into the UK Biobank resource for the global health research community to use. It follows a brief exclusive research period for Regeneron and GSK. Additional tranches of data will similarly be released over the next two years. All sequencing and analyses activities are undertaken on a de-identified basis, with the utmost consideration and respect for participant privacy and confidentiality principles.
“We believe this is the largest open access resource of exome sequence data linked to robust health records in the world – and this is just the beginning,” … “There is so much actionable information in this resource that can be utilized by scientific minds around the globe. We are hard at work mining the data for novel findings that will accelerate science, innovative new medicines and improved patient care, and we are excited to have others join us in this important quest.” – Aris Baras, MD, Senior Vice President and Head of the Regeneron Genetics Center
“We are excited about the possibilities of letting loose the imaginations of scientists from around the world on these large-scale genomic data linked to so much detailed information related to health in the 500,000 UK Biobank participants,” – Professor Sir Rory Collins, UK Biobank’s Principal Investigator, who encouraged approved researchers to use the data