Invitae announced a collaboration with Simons Searchlight, an international research program with a goal of accelerating research and improving lives for people with rare genetic neurodevelopmental disorders. This partnership will connect two sets of data – the longitudinal clinical data extracted from medical records through Invitae's Ciitizen, a patient-consented, digital natural history data platform and patient reported outcomes and biospecimens collected by Simons Searchlight. The partnership breaks down data silos and provides a rich and deep dataset that will help accelerate research for rare neurodevelopmental diseases.

Rare disease patients and caregivers are often asked to participate in many different stand- alone studies to help advance research. Through the combined clinical and patient-reported data in these two datasets, researchers get a deeper understanding of the etiology and progression of disease, sparing additional time, effort and data collection from the patient. This agreement expands upon a partnership that was originally launched as a pilot for STXBP1 patients and the STXBP1 Foundation.

The relationship allowed consenting patients to link their de-identified Invitae Ciitizen data with the Simons Searchlight database to accelerate understanding of patients with STXBP1 disorder. By expanding focus to additional rare neurological disorders, such as SYNGAP1, SCN2A, SLC6A1 and more, researchers are one step closer to finding the needle in the haystack for patients with these conditions.