Our review on the use of human genetics in drug development is published

The modern cardiovascular drug development landscape has been largely shaped by human genetic studies (PCSK9, APOC3, ANGPTL3/4, LPA, FXI...). Emerging IL-6 targeting therapeutics for atherosclerotic cardiovascular disease (ASCVD) are a landmark example.

In this Circulation: Genomic and Precision Medicine paper with Emil deGoma and John Walsh from the Tourmaline Bio team (developing an anti-IL6 antibody for ASCVD), we review as a case study how human genetics has informed the development of IL-6 signaling targeting therapies.

We focus on how genetic studies:
👉 initially pinpointed IL-6 signaling among other pathways as a causal driver of athero-inflammation
👉 help prioritize indications for anti-IL-6 therapeutics
👉 suggeste potential opportunities for repurposing
👉 highlight potentially unexpected safety signals
👉 inform trial design (population selection, endpoints)

🔗 link to the study (open access): https://www.ahajournals.org/doi/10.1161/CIRCGEN.125.005103