Unlocking the Genetic Rosetta Stone: A Pharma Frenemies Pact

Tuesday - October 10 2023, 02:18 UTC - 1 year ago

This week, three studies in Nature focused on plasma proteins as a translator between genes and bodily functions. By tapping into the UK Biobank database of 500,000+ participants, the Pharma Proteomics Project was able to link genetic changes to various health concerns such as fatty liver disease. This major collaboration between 13 biopharmaceutical companies has the potential to lead to new medications, diagnosis, and treatments.

A blood draw is one the most mundane clinical tests. It can also be a Rosetta stone for decoding genetic information and linking DNA typos to health and disease. This week, three studies in Nature focused on the watery component of blood—called plasma—as a translator between genes and bodily functions. Devoid of blood cells, plasma is yellowish in color and packs thousands of proteins that swirl through the bloodstream. Plasma proteins trigger a myriad of biological processes: they tweak immune responses, alter metabolism, and even spur—or hinder—new connections in the brain. They’re also a bridge between our genetics and health. Ever since first mapping the human genome, scientists have tried to link genetic typos to health and disease. It’s a tough problem. Some of our most troubling health concerns—cancer, heart and vascular disease, and dementia and other brain disorders—are influenced by multiple genes working in concert. Diet, exercise, and other lifestyle factors muddle gene-to-body connections.

The new studies tapped into the UK Biobank, a comprehensive database containing plasma samples from over 500,000 people alongside their health and genetic data. The research found multiple protein "signatures" in plasma that mapped onto specific parts of the genetic code—for example, rare DNA letter edits that were previously hard to capture. Digging deeper, several plasma protein signatures reflected genetic changes that linked to fatty liver disease. Other associations between gene and plasma predicted blood type, gut health, and other physical traits.

These proof-of-concept examples may bring new medical discoveries. Plasma is easily obtainable through a blood draw. As a translator between genetic and physical profiles, their protein signatures can potentially inform new medications, diagnosis, or treatments.

To be very clear: the trio of studies came from an unexpected coalition—13 biopharmaceutical companies working together in a precompetitive pact. The arrangement is exactly what it sounds like. Instead of competing against each other, the companies are sharing results to solve one of the toughest biological mysteries—how do genes, with a hefty dose of environmental influences, make us who we are.

Pharma Frenemies .

Back in 2020, a handful of the world’s most influential pharmaceutical companies made a pact to collaborate on a single endeavor—the Pharma Proteomics Project.

The UK Biobank, one of the world’s largest and most comprehensive biomedical resources, was the core organizer. First launched in 2006, the biobank has grown into an enormous database: So far, over half a million participants in the UK have signed up, including people of diverse ethnicities. The database contains biographical information—age, gender, and health status—and more in-depth measures such as brain scans, gene sequences, and blood tests.

These aren’t just clinical blood tests to check your mineral or hormone levels. Using blood samples, the Biobank has a full profile of each participant’s plasma protein.

Over the last few years, with consent from the volunteers, the Biobank has released their dataset to scientists. All 13 partnered biopharmaceutical companies pooled together to fund a collaboration known as the Pharma Proteomics Project, named after plasma proteins.