📣📣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
New SETBP1 Behaviors and Characteristics Study & Prior SCoReS Study Results New SETBP1 Behaviors and Characteristics Study Learn about a new SETBP1 research study! This study will focus on learning more about the unique characteristics and behaviors of our children and young adults with SETBP1 haploinsufficiency disorder and related disorders. The webinar provides information about […]
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 […]
Registration is open for the 2023 Million Dollar Bike Ride (MDBR)!! We would love for you to join our SETBP1Strong team! You can ride in-person on Saturday, June 10th in Philadelphia, PA or you can ride virtually. Each year, SETBP1 friends and family ride to raise funds for SETBP1-HD and related disorder research in the […]
For the 4th year in a row, our SETBP1Strong Team participated in the Million Dollar Bike Ride MDBR) in Philadelphia, PA in June of 2022. This annual event supports over 30 rare disease communities and is sponsored by the Penn Medicine Orphan Disease Center (ODC). Collectively, the 2022 event raised over $2.6 million for the […]
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 Data Collection Program – NEW STUDY See how sharing patient information will collectively make a difference in finding targeted treatments for SETBP1-related disorders and other rare disease BENEFITS OF PARTICIPATING IN OUR DATA COLLECTION PROGRAMWe are building the SETBP1 Data Collection Program to … Inform researchers how SETBP1-related disorders change over time Enable better […]
Webinar for SETBP1 Data Collection Program with RARE-X tomorrow Join us tomorrow for our RARE-X SETBP1 Data Collection Program launch! Register for the Webinar Saturday 5 March at 1pm ET / 10am PT Jointly hosted by SETBP1 Society and RARE-X We look forward to sharing this exciting new step in our efforts to elevate the […]
SETBP1 haploinsufficiency disorder (SETBP1-HD) is an ultra rare, genetic neurodevelopmental disorder. SETBP1-HD is caused by a loss-of-function change on one copy of the two copies of the SETBP1 gene. There are also some changes on one copy of the SETBP1 gene where we do not know how the SETBP1 function is impacted. For changes where […]
A NEW resource guide to help medical specialists, educators, families, and therapists to better understand SETBP1 haploinsufficiency disorder (SETBP1-HD) is NOW AVAILABLE! This resource guide takes the findings from the 2 recent SETBP1-HD publications (Speech and language deficits are central to SETBP1 haploinsufficiency disorder and
