RARE Daily

BridgeBio Collaborates with Invitae to Harness Genetic Insights for Drug Discovery

January 30, 2024

Rare Daily Staff

BridgeBio Pharma and medical genetics company Invitae are collaborating to generate insights on genetic modifiers and the discovery of novel therapeutic targets for rare diseases and other unmet medical needs.

The agreement expands upon the longstanding partnership between the two companies to combine the strengths of BridgeBio’s deep expertise in rare disease research and development of therapeutics, and Invitae’s rare disease enriched dataset and analytical capabilities.

Access to large genetic and clinical datasets are needed to advance research and discover novel drug targets and are often hard to find for researchers. Invitae has provided clinical testing for more than 4 million patients, generating an extensive dataset that is uniquely positioned to deepen insights on patients with genetically-driven disease.

“Patients with severe and highly penetrant dominant disorders are not represented in general population studies, making it nearly impossible to find data anywhere except a disease-focused cohort like Invitae’s,” said Sun-Gou Ji, vice president of computational genetics at BridgeBio. “These rich data sources will continue to offer researchers a mechanism to get a much deeper understanding of genetic variations and their effect on diseases.”

Together Invitae and BridgeBio will translate genetic and phenotypic data into insights to improve therapeutic discovery and design for patients with rare disease. Invitae will analyze longitudinal medical phenotypes in linked genetic and clinical datasets, in order to understand the burden of disease in a real-world setting. Harnessing BridgeBio’s disease expertise, Invitae will leverage AI-based phenotypic clustering to identify subgroups of patients based on their genetic and phenotypic profiles. Invitae will also conduct association testing to identify potential genetic modifiers of disease phenotype, severity, onset and progression.

“By leveraging de-identified genetic information from patients, our researchers can gain a much deeper understanding of the genetic basis of a disease,” said W. Michael Korn, chief medical officer at Invitae.

Photo: W. Michael Korn, chief medical officer at Invitae

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