Invitae Partners with BridgeBio Pharma to Harness Genetic Insights for the Discovery of Rare Disease Therapeutics

On January 30, 2024 Invitae (NYSE: NVTA), a leading medical genetics company, reported a partnership with BridgeBio Pharma, Inc. (Nasdaq: BBIO), a commercial-stage biopharmaceutical company focused on genetic diseases and cancers, designed to advance genetics-based drug discovery for rare diseases (Press release, Invitae, JAN 30, 2024, View Source;BridgeBio-Pharma-to-Harness-Genetic-Insights-for-the-Discovery-of-Rare-Disease-Therapeutics/default.aspx [SID1234639709]). The goal of the collaboration is to generate new insights focused on genetic modifiers and the discovery of novel therapeutic targets for rare diseases and other unmet medical needs.

Schedule your 30 min Free 1stOncology Demo!
Discover why more than 1,500 members use 1stOncology™ to excel in:

Early/Late Stage Pipeline Development - Target Scouting - Clinical Biomarkers - Indication Selection & Expansion - BD&L Contacts - Conference Reports - Combinatorial Drug Settings - Companion Diagnostics - Drug Repositioning - First-in-class Analysis - Competitive Analysis - Deals & Licensing

                  Schedule Your 30 min Free Demo!

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. 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 genetic-driven disease.

"Invitae is on a mission to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. 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, M.D., chief medical officer at Invitae. "Through this partnership, we aim to support the development of novel therapeutic targets and advance transformative medicines for patients with rare disease."

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.

"We chose to partner with Invitae because of the unique scale and depth of their dataset on affected populations. 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, Ph.D., 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.