Father of four, husband of one.
Child psychiatrist & researcher genetics & development, autism, schizophrenia, 22q11DS. Hospital for Sick Children Toronto
Nov 11, 2022 • 7 tweets • 4 min read
1/7 Very excited to share findings of the largest #autism whole genome sequencing (WGS) study, published in Cell @CellCellPress@SickKidsNews@autismspeaks
Over 100 investigators involved.. a true team science effort!
authors.elsevier.com/a/1g3VbL7PXiqSv2/7 Of note, the latest release of the Autism Speaks MSSNG resource (research.mss.ng) contains whole-genome sequencing data from over 11,300 individuals from families with autism.
Nov 22, 2020 • 11 tweets • 4 min read
1/ #22q11DS is a rare genetic disorder. Due to the missing of a small piece of chromosome 22 (="deletion"), it can lead to a range of physical issues, most often affecting the heart, palate and immune system.
It can also impact the brain. How? images.app.goo.gl/oKK5xqaVFDhVkC…2/ The missing bit of chr22 contains amongst others instructions for the developing brain.
1/X rdcu.be/b992F
We are very excited about our study appearing today in @NatureMedicine. It is a genotype-phenotype study in the largest sample of individuals with #22q11.2 deletion syndrome reported to date.
Let us give you a quick 12-step tour of our findings.
2/X #22q11DS is a #RareDisease. In addition to a range of physical symptoms, patients are liable to neuropsychiatric conditions, including #schizophrenia (SZ) and #intellectualdisability (ID). However, manifestations are highly variable. Image: positiveexposure.org
