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January 30, 2024

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

SAN FRANCISCO, Jan. 30, 2024 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, today announced 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. 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. 

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. 

For more information about Invitae's solutions for biopharma partners, visit

About Invitae 
Invitae (NYSE: NVTA) is a leading medical genetics company trusted by millions of patients and their providers to deliver timely genetic information using digital technology. We aim to provide accurate and actionable answers to strengthen medical decision-making for individuals and their families. Invitae's genetics experts apply a rigorous approach to data and research, serving as the foundation of their mission to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people.

To learn more, visit and follow for updates on Twitter, Instagram, Facebook and LinkedIn @Invitae.

About BridgeBio
BridgeBio is a biotechnology company on a mission to discover and deliver transformative medicines for patients with genetic diseases and cancers with clear genetic drivers. 

Safe Harbor Statement
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the company's goals with respect to the partnership; the intended structure and potential benefits of the partnership; the company's beliefs regarding its dataset and analytical capabilities; and the company's belief that the partnership may support the development of novel therapeutic targets and advance transformative medicines for patients with rare disease. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's ability to grow its business in a cost-efficient manner; the company's history of losses; the company's ability to maintain important customer relationships; the company's ability to compete; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; the applicability of clinical results to actual outcomes; risks associated with litigation; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2023. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Invitae PR contact: 
Renee Kelley  

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SOURCE Invitae Corporation

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