At SETBP1 Society, we are committed to a singular mission: advancing research that leads to effective treatments and improved quality of life for individuals with SETBP1 haploinsufficiency disorder (SETBP1-HD) and related disorders. While SETBP1-HD is considered ultra-rare—with fewer than 300 known individuals worldwide—important scientific progress has been made since the first case was identified in […]
First ever international SETBP1 conference brings together families, researchers, and supporting organizations 2/26/25, Kelsey Bennett
As we spring into 2025 excited for the research and discoveries to come, we look back into the history of SETBP1 Society and SETBP1 haploinsufficiency disorder. From 2011 to today, the last 13 years have laid the foundations of hope for the next scientific breakthrough in SETBP1-HD. Together, we’ve achieved so much. Take a look! […]
The SETBP1 Family & Research Conference is THIS OCTOBER from Friday early evening on the 11th through Sunday lunch on the 13th in Austin, TX! Our Empowering Independence-themed conference provides you the opportunity to ask your burning questions from SETBP1 medical specialists, researchers and therapists, to hear about the latest SETBP1 research findings, to connect […]
SETBP1 Genetics: Bite-Sized Breakthroughs Breaking down new breakthroughs in SETBP1 research in an easy to digest way Welcome to our 2nd “SETBP1 Genetics: Bite-sized Breakthrough”. –This time, we are looking back at a breakthrough article published in the European Journal of Human Genetics in 2021 by Nadieh Jansen, MS, located at Radboud University Medical Center […]
📣📣SAVE THE DATE!! 📝📝 The location and dates for the 2024 SETBP1 Family & Research Conference have been set! The in-person international gathering will be October 11th-13th, 2024 in Austin, TX USA! Can’t wait to see our SETBP1 families and researchers gather together again under one roof to connect, share and learn! Learn more: bit.ly/setbp1-conference
SETBP1 Society is pleased to share the funding opportunity offered by the 2023 Million Dollar Bike Ride Grant Program sponsored by the University of Pennsylvania Orphan Disease Center! They are NOW ACCEPTING LETTERS of INTEREST to apply for one $88,740 SETBP1 Haploinsufficiency Disorder research grant. These funds were made possible by the amazing fundraising efforts […]
SETBP1 Society plans to work with our SETBP1 medical specialists to establish the first ever SETBP1 Multidisciplinary Clinic. The clinic will provide SETBP1 families coordinated care services to develop cohesive treatment plans. This GivingTuesday, we need to raise $25,000 to help establish this clinic. Check out our progress so far!
It has been just over a week since our Simons Searchlight Family & Research Conference for SETBP1 families came to an end. This was our first ever in-person conference for SETBP1 families, our first ever in-person conference for SETBP1 researchers and our first ever in-person gathering of SETBP1 families and researchers together!! It is hard […]
SETBP1 Society is pleased to share the funding opportunity offered by the 2021 Million Dollar Bike Ride Grant Program sponsored by the University of Pennsylvania Orphan Disease Center! They are NOW ACCEPTING LETTERS of INTEREST to apply for one $91,466 SETBP1 Disorder research grant or one of two $45,733 SETBP1 Disorder research grants. The purpose […]
