Jacob Vorstman is associate professor of psychiatry at the University of Toronto and director of the Autism Research Unit at the Hospital for Sick Children in Canada. Initially, his research focused on the psychiatric and genetic aspects of the 22q11.2 deletion. After obtaining his Ph.D. in 2008, he broadened the scope from 22q11.2 deletion syndrome to the study of genotype-phenotype relations in neurodevelopmental conditions — in particular, autism, intellectual disability and schizophrenia. His ambition is to further insights into the genetic architecture underlying these conditions as well as to improve methods to measure the associated phenotypes.
Jacob Vorstman
Professor
The Hospital for Sick Children
From this contributor
A genetics-first clinic for catching developmental conditions early: Q&A with Jacob Vorstman
A new clinic is assessing children who have a genetic predisposition for autism and other neurodevelopmental conditions—sometimes before traits appear.
A genetics-first clinic for catching developmental conditions early: Q&A with Jacob Vorstman
By
Lauren Schenkman
15 August 2024 | 7 min read
How polygenic scores can improve predictions about autism, schizophrenia
Jacob Vorstman wants to help people who have rare mutations tied to autism, schizophrenia and other neurodevelopmental conditions set expectations about outcomes.
How polygenic scores can improve predictions about autism, schizophrenia
By
Angie Voyles Askham
19 January 2021 | 7 min read
Explore more from The Transmitter
Mass-produced science is coming. What happens to scientists?
Artificial intelligence may soon enable researchers to generate high-quality science at a previously unimaginable speed. For science consumers—the public, medical patients, technology users—the likely effects will be positive. For scientists, the effects will be as disruptive as industrial mass production was for artisan manufacturers.
Mass-produced science is coming. What happens to scientists?
Artificial intelligence may soon enable researchers to generate high-quality science at a previously unimaginable speed. For science consumers—the public, medical patients, technology users—the likely effects will be positive. For scientists, the effects will be as disruptive as industrial mass production was for artisan manufacturers.
By
Kenneth Harris
9 July 2026 | 9 min read
Neuropathologist not guilty of research misconduct, says university probe
The investigation determined that seven papers by corresponding author Adriano Aguzzi have “scientifically significant” errors, which Aguzzi attributes to his former students.
Neuropathologist not guilty of research misconduct, says university probe
The investigation determined that seven papers by corresponding author Adriano Aguzzi have “scientifically significant” errors, which Aguzzi attributes to his former students.
By
Dalmeet Singh Chawla
8 July 2026 | 5 min read
Diverse autism genes derail common developmental pathways
Multiple genetic mouse models initially show delayed cortical development, but the animals’ molecular trajectories diverge within weeks after birth, a new study finds.
Diverse autism genes derail common developmental pathways
Multiple genetic mouse models initially show delayed cortical development, but the animals’ molecular trajectories diverge within weeks after birth, a new study finds.
By
Holly Barker
8 July 2026 | 5 min read