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Archive - Mar 13, 2019


New Genetic Data on 50,000 UK Biobank Participants Made Available to Global Health Research Community—"“We Believe This Is the Largest Open-Access Resource of Exome Sequence Data Linked to Robust Health Records in the World," Regeneron SVP Says

A vast tranche of new UK Biobank genetic data became available to health researchers on March 11, 2019, offering an unprecedented resource to enhance understanding of human biology and aid in therapeutic discovery. The exome sequence data of 50,000 UK Biobank participants was generated at the Regeneron Genetics Center through a collaboration among UK Biobank, Regeneron (US), and GSK (GlaxoSmithKline - UK) and are linked to detailed 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. In addition, GSK has committed a £40 million (~$53 million) investment to initiatives, such as UK Biobank, that harness advances in genetic research in the development of new medicines. 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. This major enhancement to UK Biobank would have been unimaginable when the study began recruiting participants in 2006, and makes it one of the most important studies of population health in the world.

Large New Study (Over 35,000 Individuals with Late-Onset AD, Over 94,000 Total) Identifies Five Additional Genes That Put People at Greater Risk of Alzheimer’s Disease—Dr. Francis Collins Comments in NIH Director’s Blog

Predicting whether someone will get Alzheimer’s disease (AD) late in life, and how to use that information for prevention, has been an intense focus of biomedical research. The goal of this work is to learn, not only about the genes involved in AD, but how they work together, and with other complex biological, environmental, and lifestyle factors to drive this devastating neurological disease. It’s good news to be able to report that an international team of researchers, partly funded by NIH, has made more progress in explaining the genetic component of AD. Their analysis, involving data from more than 35,000 individuals with late-onset AD, has identified variants in five genes that put people at greater risk of AD. It also points to molecular pathways involved in AD as possible avenues for prevention, and offers further confirmation of 20 other genes that had been implicated previously in AD. The results of this largest-ever genomic study of AD suggest key roles for genes involved in the processing of beta-amyloid peptides, which form plaques in the brain recognized as an important early indicator of AD. The results also offer the first evidence for a genetic link to proteins that bind tau, the protein responsible for tell-tale tangles in the AD brain that track closely with a person’s cognitive decline. The Nature Genetics article summarizing this work was published online on February 28, 2019, and is titled “Genetic Meta-Analysis of Diagnosed Alzheimer’s Disease Identifies New Risk Loci and Implicates Aβ, Tau, Immunity, and Lipid Processing.”