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Invitae, BridgeBio Pharma Partner on Rare Disease Drug Discovery

NEW YORK – Invitae and BridgeBio Pharma said Tuesday that they are joining forces to discover new genetic rare disease targets and therapies.

Under the agreement, financial terms of which were not disclosed, Invitae will analyze longitudinal medical phenotypes in linked genetic and clinical datasets, with the goal of understanding the burden of disease in a real-world setting.

"Through this partnership, we aim to support the development of novel therapeutic targets and advance transformative medicines for patients with rare disease," Michael Korn, Invitae's chief medical officer, said in a statement.

Leveraging BridgeBio's disease expertise, San Francisco-based Invitae aims to identify subgroups of patients, based on their genetic and phenotypic profiles, through artificial intelligence-based phenotypic clustering. The company will also conduct association testing to identify potential genetic modifiers of disease phenotype, severity, onset, and progression. 

The collaboration combines the strengths of BridgeBio's expertise in rare disease research and development of therapeutics and Invitae's rare disease-enriched dataset and analytical capabilities.

"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, VP of computational genetics at BridgeBio. 

Earlier this month, Invitae completed the sale of its reproductive health assets to Natera as part of an effort to focus on oncology and rare diseases.