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Jacob Vorstman
Research Positions
Director
Autism Research Unit
Senior Scientist
Genetics & Genome Biology
Biography
Dr. Vorstman was trained in psychiatry and now specializes in child and adolescent psychiatry. Starting in 2001, his research focuses on the study of genotype-phenotype relations in autism and schizophrenia.
He hopes to further insights into the genetic architecture underlying these disorders and to improve methods to measure the associated phenotypes. Working with Professor Martien Kas at the University of Groningen, Dr. Vorstman developed a smartphone application, BeHapp, for the passive monitoring of social and communicative behaviours.
Research
With his research team, Dr. Vorstman studies the relationships between genes and behaviour, in particular, how genetic variants can contribute to neurodevelopmental disorders such as autism, intellectual disability and schizophrenia. Together with his team he initiated a multidisciplinary clinic for children with genetic risk variants associated with a psychiatric or neurodevelopmental outcome. This clinic, called DAGSY (Developmental Assessment of Genetically Susceptible Youth) recently received considerable funding from CIHR and NIMH, allowing the integration of research and clinical service.
His ambition is to further insights into the genetic architecture underlying neurodevelopmental disorders as well as to improve methods to measure the associated phenotypes. Regarding the latter, he developed a smartphone application, in equal partnership with Professor Kas, which allows 24/7 objective registrations of social and communicative behaviours of individuals. This application, BeHapp, has received substantial funding and is at present implemented in several ongoing studies generating the first data of this kind.
Publications
- Schaaf CP, Betancur C, Yuen RKC, Parr JR, Skuse DH, Gallagher L, Bernier RA, Buchanan JA, Buxbaum JD, Chen CA, Dies KA, Elsabbagh M, Firth HV, Frazier T, Hoang N, Howe J, Marshall CR, Michaud JL, Rennie O, Szatmari P, Chung WK, Bolton PF, Cook EH, Scherer SW, Vorstman JAS. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nature reviews Genetics 2020; 21(6):367-376.
- Jongs N, Jagesar R, van Haren NEM, Penninx B, Reus L, Visser PJ, van der Wee NJA, Koning IM, Arango C, Sommer IEC, Eijkemans MJC, Vorstman JA, Kas MJ. A framework for assessing neuropsychiatric phenotypes by using smartphone-based location data. Translational Psychiatry 2020; 10(1):211.
- Vorstman JAS, Olde Loohuis LM, Investigators G, Kahn RS, Ophoff RA, GROUP Investigators. Double hits in schizophrenia. Human Molecular Genetics 2018; 27(15):2755-2761.
- Vorstman JAS, Parr JR, Moreno-De-Luca D, Anney RJL, Nurnberger JI, Jr., Hallmayer JF. Autism genetics: opportunities and challenges for clinical translation. Nature Reviews Genetics 2017; 18(6):362-376.
- Vorstman JA, Breetvelt EJ, Duijff SN, Eliez S, Schneider M, Jalbrzikowski M, Armando M, Vicari S, Shashi V, Hooper SR, Chow EW, Fung WL, Butcher NJ, Young DA, McDonald-McGinn DM, Vogels A, van Amelsvoort T, Gothelf D, Weinberger R, Weizman A, Klaassen PW, Koops S, Kates WR, Antshel KM, Simon TJ, Ousley OY, Swillen A, Gur RE, Bearden CE, Kahn RS, Bassett AS, International Consortium on Behavior in 22q11.2 Deletion Syndrome. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome. JAMA psychiatry 2015; 72(4):377-385.
See a full list of Dr. Vorstman's publications on PubMed or Google Scholar.
2022 – 2025: “The Canadian Pediatric Imaging Platform (C-PIP): A platform to support research in child brain health”. Co-Investigator. Brain Canada. $5,605,000 CAD
2022 – 2023: “Reducing the unknown in genetic variants of unknown significance”. Co-Investigator. Precision Child Mental Health Research Grant Competition. $99,952 CAD
2022 – 2023: “Unlocking the EPIC potential to promote Precision Child Mental Health”. Principal Investigator. Precision Child Mental Health Research Grant Competition. $99,719 CAD
2020 – 2024: Supplement “Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders”. Principal Investigator. National Institutes of Health. $443,484.00 USD.
2020 – 2023: “Using smartphone technology for the early detection of bipolar episodes in youth”. Principal Investigator. Miner’s Lamp Innovation Fund. $150,000 CAD
2019 – 2024: “Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders”. Principal Investigator. National Institutes of Health. $2,667,000 USD.
2019 – 2023: “Modeling Polygenic Variation to Improve Prediction of Cognitive Outcomes of Pathogenic CNVs” Principal Investigator. McLaughlin Centre Accelerator Grants $90,000 CAD
2019 – 2020: “Paediatric Delirium: Impact on Outcomes and Effect of Systematic Screening”. Co-Principal Investigator. Psychiatry Endowment Fund Seed Grant Competition. PI: Claire De Souza. $30,000 CAD
2019 – 2024: “Early prediction of developmental outcomes: a prospective study of infants with high-impact genetic risk variants.” Principal Investigator. CIHR, $688,500 CAD.
2019 – 2023: “Spit for Science 2 Autism Spectrum Project: Harnessing the Power of Population-Based Samples for Gene x Environment Studies” Collaborator. CIHR. PI: Jennifer Crosbie $1,170,450 CAD
2019 – 2023: “Early relapse detection in youth depression: development of secondary prevention methods by multiplex digital phenotyping”. Co-applicant. CIHR. PI: John Strauss. $952,424 CAD
2018 – 2019: “Epilepsy Genomics Discovery” McLaughlin Centre Accelerator Grant Competition. Co-Investigator. PI: Danielle Andrade. $50,000 CAD
2018 – 2019: “Whole genome sequencing for stratification in clinical trials in Autism Spectrum Disorder”. McLaughlin Centre Accelerator Grant Competition. Co-Investigator PI: Evdokia Anagnostou. $50,000 CAD
2018 – 2019: “Optimized Whole Genome Sequencing Analysis of Complex Disease in a 22q11.2 Deletion Model” Co-Investigator. McLaughlin Centre Accelerator Grant Competition. PI: Anne Bassett. $50,000 CAD
2018 – 2019: “A Novel Approach Towards Understanding Social Competence in Paediatric Brain Tumour Survivors”. Principal Investigator. Psychiatry Endowment Fund Seed Grant Competition, Co-PI: Lai, Meng-Chuan. $30,000 CAD
2017 – 2022: “Building a national resource for the advancement of knowledge of autism in Qatar”. Co-Investigator. Qatar National Research Fund. PI: Khalid Fakhro, Co-Investigator: Steve Scherer. $1,049,412 USD
2017 – 2021: “Language impairment in the 22q11.2 deletion syndrome: a model for SLI?”. Co-Applicant. NWO (Dutch Science Association). PI: Frank Wijnen. €750,000
2016 – 2021: “snel beter behandelen” Smartphone based Monitoring and cognition Modification Against Recurrence of Depression (SMARD) Dutch Brain Foundation (Nederlandse Hersen Stichting) Research program. Co-Applicant. PI: Erik Ruhé. €300,000
2016 – 2019: IMI2: Psychiatric Ratings using Intermediate Stratified Markers (PRISM). H2020 RefID 115916. Principal Investigator (co-PI). PI: Martien Kas. €16,195,875
2015 – 2016: Principal Investigator (co-PI). “BeHapp: using the smartphone to longitudinally monitor adolescent social behavior in real life to predict onset of behavioral disorders” UU: Dynamics of Youth. PI: Martien Kas €103,495
2013 – 2018: NIMH: (5U01MH101722-02). Principal Investigator (co-PI). PI: Raquel Gur. $12,000,000
This grant covers expenses of genome sequencing and SNP genotyping, and the construction of a dataset to facilitate pooling of phenotype data from the 22 consortium research sites
2012 – 2017: European Autism Interventions: A Multicenter Study for Developing New Medications (EU-AIMS). Co-Applicant. IMI PI: Murphy, Declan Murphy. €1,761,000
2012: University of Utrecht, Intensive Workshop Grant. Principal Investigator. € 5,000
2010 – 2016: “On the Role of Copy Number Variants in Autism: What About the Other Allele?” Dutch Brain Foundation (Nederlandse Hersen Stichting). Principal Investigator. €150,000. Fellowship grant
2010: “Clinical and Genetic Aspects of Psychosis in the 22q11.2 Deletion Syndrome” (PI) NARSAD, Principal Investigator. Young Investigator Award $ 60,000 USD
2007 – 2008: Prefrontal en Hippocampal Glutamate/Glutamine Concentration in Patients with the 22q11.2 Deletion Syndrome, an MR Spectroscopy Study. Dutch Brain Foundation (Nederlandse Hersen Stichting). Co-Applicant. PI: Therese van Amelsvoort. €25,000
2006: “On the role of CNVs in schizophrenia: what about the other allele?” (PI) Principal Investigator. NARSAD Young Investigator Award $60,000 USD
2003 – 2004: “Genetics and Psychopathology in the 22q11 deletion syndrome” Principal Investigator. (PI) Dutch Brain Foundation (Nederlandse Hersen Stichting). €25,000
