Maggie Wong, PhD, is a research scientist at the Max Planck Institute in Nijmegen, Netherlands working in Prof Simon Fisher’s lab. She develops induced pluripotent stem cells from patients, controls (same sex relatives) and CRISPR-generated lines in order to study SETBP1 disorder. Here about her mini-brain research and her excitement about the move to open […]
Tomorrow, over 15 SETBP1 researchers and medical specialists will convene virtually to share their latest research updates! These meetings are imperative in order to advance science in a faster and collaborative manner. Haley Oyler, the SETBP1 Society president, will share the patient advocate perspective to ensure the patient’s perspective is at the forefront of the […]
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 […]
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, […]
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, […]
NEW STUDY – Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” Our findings contribute to further characterizing the associated phenotypes and suggest inclusion of SETBP1 in the list of prioritized genes for the genetic diagnosis of overlapping phenotypes ranging from non-specific neurodevelopmental disorders to […]
