Our 2024 SETBP1 Community Survey is available for SETBP1 families to complete in English, Dutch, French, German, Italian, Portuguese, and Spanish. We want to hear from you! Please take about 15 minutes to complete this short survey There is an additional section included for SETBP1 parents and caregivers of young adults as we have very […]
New Speech and Language Resource for SETBP1-HD The team at the Speech and Language Centre of Research Excellence at Murdoch Children’s Research Institute partnered with SETBP1 Society to provide a new resource for SETBP1 families. This resource focuses on the identified speech and language difficulties experienced by children with SETBP1 haploinsufficiency disorder (SETBP1-HD). SETBP1 families […]
Recorded presentations from our brilliant 2022 Simons Searchlight Family & Research Conference for SETBP1 families are NOW AVAILABLE!! Check out the Presentation List below and select the associated links to watch the recorded presentations! SETBP1 Talks Welcome from Haley, SETBP1 Society President – Watch Simons Searchlight Registry Update and Q&A | Speaker: Wendy Chung – […]
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
What is SETBP1-HD you ask? Well, it is the new way to refer to SETBP1 disorder. Earlier this year, two publications recommended referring to the neurodevelopmental disorder caused by a SETBP1 loss-of-function variant as SETBP1 haploinsufficiency disorder. This is an accurate description as haploinsufficiency means one copy of a gene is inactivated or deleted and the […]
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, […]
Lilit Antonyan, MSc is a research student at the Douglas Research Centre at McGill University in Montreal, Canada. She works in Dr Carl Ernst’s Lab working on SETBP1 disorder. Here about her exciting research and her connection to our SETBP1 community! MEET LILIT ANTONYAN
The first publication dedicated to delving into the speech and language characteristics of those with SETBP1 disorder (SETBP1 haploinsufficiency disorder) just published in the European Journal of Human Genetics. This is the 2nd SETBP1 disorder paper to post within the past week! Dr Angela Morgan from the Murdoch Children’s Research Institute who has worked closely […]
Dr Sid is our SETBP1 Clinician we are highlighting in our new series called Meet the SETBP1 Team! In this series, we share interviews and stories from our SETBP1 families, SETBP1 clinicians, SETBP1 Board members, and SETBP1 researchers. Dr Sid joined our SETBP1 community the same year SETBP1 Society formed. He is a pediatric neurologist […]
