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 […]
Next up in our Meet the SETBP1 Team series is Dr Carl Ernst! Carl Ernst, PhD is a researcher at the Douglas Research Centre, professor at McGill University and Canada research chair in psychiatric genetics in Montreal, Canada. His lab’s expertise is in stem cell modelling of neurological disease and genetic engineering. He has a […]
Next up in our Meet the SETBP1 Team series is Prof Dr Simon Fisher! He is a geneticist, neuroscientist and director of the Max Planck Institute for Psycholinguistics in Nijmegen, the Netherlands. Simon’s work attempts to bridge the gaps between genes, brains, speech and language, by integrating molecular findings with data from levels of analysis, […]
We are excited to kick off a new series called Meet the SETBP1 Team! In this series, we will share interviews and stories from our SETBP1 families, SETBP1 clinicians, SETBP1 Board members, and SETBP1 researchers. Our clinical geneticist who has been on this journey with us since before SETBP1 Society formed, Dr Bregje van Bon, […]
This past August our SETBP1 community gathered together virtually at the 2020 Simons Searchlight Conference for SETBP1 families. We learned more about the SETBP1 disorder phenotype, strategies to deal with challenging behaviors, how to read lab reports, attention issues, updates from SETBP1 Society and much more! The conference spanned 2 weekends. Check out the 3 […]
