Million Dollar Bike Ride – Join our SETBP1Strong Team

SETBP1 Society and the University of Pennsylvania Orphan Disease Center invite you to participate in the Million Dollar Bike Ride on Saturday, June 12, 2021 to raise money for research in rare diseases, including SETBP1 disorder. 100% of registration and fundraising money will go towards SETBP1 research! Not only that, but the Orphan Disease Center […]

NEW SETBP1 Study

NEW STUDY – Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” Our findings contribute to further characterizing the associated phenotypes and suggest inclusion of SETBP1 in the list of prioritized genes for the genetic diagnosis of overlapping phenotypes ranging from non-specific neurodevelopmental disorders to […]