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 […]
The first publication dedicated to documenting the SETBP1 disorder phenotype/presentation just published in the European Journal of Human Genetics. Our very own Medical and Scientific Advisory Board member, Dr Brejge van Bon, spearheaded this achievement. This publication documents 34 individuals with SETBP1 haploinsufficiency disorder (SETBP1 disorder). “The most commonly reported clinical features included mild motor […]
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, […]
SETBP1 Society is a member of COMBINEDBrain a non-profit consortium of 25 patient-advocacy groups, each representing a different rare genetic neurodevelopmental disorder. COMBINEDBrain’s mission is to speed clinical trial readiness for severe rare neurodevelopmental disorders by pooling resources and working together across all of our member disorders. We are honored to participate in COMBINEDBrain and […]
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, […]
Understanding the challenges in executive function for those with SETBP1 Disorder Dr. Audrey Brumback, a physician scientist at Dell Medical School at The University of Texas at Austin, sets out to better understand if prefrontal cortex neurons may be a target to help executive function challenges for those living with SETBP1 disorder. Austin, TX — […]
