SETBP1 Society Joins RARE-X to Increase Visibility in Research Community Austin, TX — October 25, 2022 – In partnership with RARE-X, SETBP1 Society is expanding its efforts in natural history studies to expedite research by creating a readily available pool of data on SETBP1 haploinsufficiency disorder (SETBP1-HD) and SETBP1-related disorder. Ownership of this natural history […]
It Takes a Village – Rare Community Synergy Austin, TX — April 24, 2022 In an effort to leverage resources and take advantage of synergies, the patient advocacy groups IDefine, Koolen-de Vries Syndrome Foundation, and SETBP1 Society are teaming up to offer a webinar series called It Takes a Village on the first Saturday of […]
Creation of Zebrafish Models to Provide Unique Insights into Impact of SETBP1-HD Austin, TX — April 19, 2022 – Creating animal models is a monumental milestone in any genetic research effort as it mimics a disease in a repeatable, observable manner. These models allow researchers to test, observe, modify and repeat trials on cells, tissues […]
Two new SETBP1 research projects funded through 2021 Million Dollar Bike Ride grants SETBP1 Society’s participation in the 2021 Million Dollar Bike Ride generates $91,466 in funding for SETBP1 research. Austin, TX — March 1, 2022 – In June of 2021, Team SETBP1Strong participated in the Million Dollar Bike Ride (MDBR) hosted by the Penn […]
Clarification of SETBP1 haploinsufficiency disorder (SETBP1-HD) gives rise to research developments Austin, TX — December 15, 2021 – Many SETBP1-HD families have waited years for a diagnosis and/or have been misdiagnosed due to the lack of awareness by clinicians around the disorder. Over the last 4 years, SETBP1 Society has directly funded research through various […]
SETBP1 haploinsufficiency disorder considered a strong candidate as a speech and language disorder Austin, TX — November 2, 2021 – Childhood Apraxia of Speech (CAS) is a motor speech disorder that makes it difficult for children to speak and may occur as a result of a genetic change. In fact, 1 in 3 children have […]
Patient community led collaborative study with Tarleton State University initiated to identify needs and provide resources for the SETBP1 community Austin, TX — September 20, 2021 — The Department of Psychological Sciences at Tarleton State University (TSU) and the SETBP1 Society have launched a patient community collaboration study called the SETBP1 Community Research Study (SCoReS). […]
Research team seeks to understand if SETBP1 gene correction at different stages of life can positively impact those living with SETBP1 related disorders The SETBP1 gene is active in many different tissues in the body presenting critical proof that the SETBP1 protein is highly integrated into human life and function. Austin, TX — May 6, […]
Understanding the challenges in executive function for those with SETBP1 Disorder Dr. Audrey Brumback, a physician scientist at Dell Medical School at The University of Texas at Austin, sets out to better understand if prefrontal cortex neurons may be a target to help executive function challenges for those living with SETBP1 disorder. Austin, TX — […]
Giving Tuesday Donations to support SETBP1 Research at Baylor College of Medicine and Texas Children’s Hospital SETBP1 disorder is a rare genetic, neurodevelopmental disorder caused by a mutation or microdeletion within the SETBP1 gene. There are no treatments or standard of care for individuals with SETBP1 disorder. Austin, TX – February 26, 2021 – On […]
