RARE Daily

Invitae and Simons Searchlight Partner to Accelerate Research through Data Sharing

September 12, 2022

Medical genetics biotech Invitae entered into a collaboration with Simons Searchlight to break down data silos by connecting two sets of data—the longitudinal clinical data extracted from medical records through Invitae’s Ciitizen and patient reported outcomes and biospecimens collected by Simons Searchlight.

Photo: Charlene Son Rigby, president and co-founder of STXBP1 Foundation

Simon’s Searchlight is an international research program with a goal of accelerating research and improving lives for people with rare genetic neurodevelopmental disorders. Invitae’s Ciitizen is a patient-consented, digital natural history data platform. The partnership breaks down data silos and provides a rich and deep dataset that will help accelerate research for rare neurodevelopmental diseases.

“We are excited about this collaboration that will allow researchers to get deep, rich longitudinal data on rare disease patients,” said Farid Vij, president and general manager of data for Invitae. “This is intended to help improve treatment, with a goal of ultimately finding a cure for these rare 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.

“Joining forces with Invitae is incredibly powerful for patients with rare diseases,” said Jennifer Tjernagel, senior project manager at Simons Searchlight, Simons Foundation. “Our partnership and the resulting datasets will help improve understanding, diagnosis and treatment of neurodevelopmental disorders, such as STXBP1, SYNGAP1 and others. Having the support of Invitae’s Ciitizen platform will help pair patient-reported data with clinical information for in depth data analysis.”

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 the 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.

“We believe in the power of data and how important sharing that data can be in the journey to finding a cure for STXBP1 Disorder,” said Charlene Son Rigby, president and co-founder of STXBP1 Foundation. “Having this kind of collaboration in our toolkit is opening up an entirely new approach for our foundation and our patient community. The combination of Invitae’s existing clinical data, which will be transitioned into a readily usable format, and Simons’ deep information from patients and caregivers, will provide doctors and scientists with an innovative way to accelerate understanding of natural history, while allowing patients and their loved ones to focus on what’s most important – their health.”

Author: Rare Daily Staff

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