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 […]
SETBP1 Society is pleased to announce the availability of several new resources. SETBP1 Disorder Information Sheet SETBP1 Society is proud to announce the release of our SETBP1 disorder Information Sheet. This is a helpful resource for medical professionals, therapists, education providers, newly diagnosed families, and anyone who wants to familiarize themselves with SETBP1 disorder. Check […]
Welcome to our SETBP1 Community!! My name is Haley Oyler and I am the president and founder of SETBP1 Society. I am the mother of a beautiful, happy, social young boy who has SETBP1-HD. My family received his diagnosed days before his 5th birthday in early 2016 after several years of testing and searching for […]
SETBP1 Society is pleased to announce the availability of several new resources. SETBP1 Disorder Information Sheet SETBP1 Society is proud to announce the release of our SETBP1 disorder Information Sheet. This is a helpful resource for medical professionals, therapists, education providers, newly diagnosed families, and anyone who wants to familiarize themselves with SETBP1 disorder. Check […]
