Simons Searchlight is excited to announce a new collaboration with medical genetics company Invitae to help accelerate rare disease research through data sharing. This partnership will break down data silos and provide researchers with a rich dataset. This is a massive win for the broader research community and for our families.

“Joining forces with Invitae is incredibly powerful for patients with rare diseases,” said Jennifer Tjernagel, M.S., 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.”

Read the full announcement: bit.ly/Invitae_Press_Release_Sept2022