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
With the overwhelming SETBP1 community participation and completion of the first SETBP1 Speech and Language Study, resulting in a publication and soon-to-be-released SETBP1 Resource Guide, a new SETBP1 Speech and Language Study has kicked off. This study titled the Speech Tracker will monitor speech and language patterns from individuals with SETBP1 haploinsufficiency disorder over a […]
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 […]
This year’s virtual 3-day SETBP1 Family Conference hosted in partnership with Simons Searchlight wrapped up with an afternoon full of informative and helpful SETBP1 presentations. Last Sunday (August 8th), we learned about the symptoms of sensory processing disorder, updated findings from Dr Carl Ernst’s lab regarding his SETBP1 haploinsufficiency disorder induced pluripotent stem cell research, […]
