, Volume 231, Issue 6, pp 1063–1078 | Cite as

Using genetic findings in autism for the development of new pharmaceutical compounds

  • Jacob A. S. VorstmanEmail author
  • Will Spooren
  • Antonio M. Persico
  • David A. Collier
  • Stefan Aigner
  • Ravi Jagasia
  • Jeffrey C. Glennon
  • Jan K. Buitelaar



The main reason for the current lack of effective treatments for the core symptoms of autism is our limited understanding of the biological mechanisms underlying this heterogeneous group of disorders. A primary value of genetic research is enhancing our insight into the biology of autism through the study of identified autism risk genes.


In the current review we discuss (1) the genes and loci that are associated with autism, (2) how these provide us with essential cues as to what neurobiological mechanisms may be involved, and (3) how these mechanisms may be used as targets for novel treatments. Next, we provide an overview of currently ongoing clinical trials registered at with a variety of compounds. Finally, we review current approaches used to translate knowledge derived from gene discovery into novel pharmaceutical compounds and discuss their pitfalls and problems.


An increasing number of genetic variants associated with autism have been identified. This will generate new ideas about the biological mechanisms involved in autism, which in turn may provide new leads for the development of novel pharmaceutical compounds. To optimize this pipeline of drug discovery, large-scale international collaborations are needed for gene discovery, functional validation of risk genes, and improvement of clinical outcome measures and clinical trial methodology in autism.


Autism Genes Neurobiology Pharmaceutical compounds Biomarker 



The research of EU-AIMS receives support from the Innovative Medicines Initiative Joint Undertaking under grant agreement no. 115300, the resources of which are composed of financial contribution from the European Union's Seventh Framework Programme (FP7/2007-2013), from the EFPIA companies in kind contribution and from Autism Speaks.

Conflicts of interest

WS, SA, and RJ are employed by F. Hoffmann-La Roche. DC is employed by Eli Lilly & Co. JB has been in the past 3 years a consultant to/member of advisory board of and/or speaker for Janssen Cilag BV, Eli Lilly, Shire, Novartis, Roche, and Servier. He is not an employee of any of these companies and not a stock shareholder of any of these companies. He has no other financial or material support, including expert testimony, patents, and royalties. None of the remaining authors have declared any conflict of interest.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Jacob A. S. Vorstman
    • 1
    Email author
  • Will Spooren
    • 2
  • Antonio M. Persico
    • 3
    • 4
    • 5
  • David A. Collier
    • 6
  • Stefan Aigner
    • 2
  • Ravi Jagasia
    • 2
  • Jeffrey C. Glennon
    • 7
  • Jan K. Buitelaar
    • 7
  1. 1.Department of Psychiatry, Brain Center Rudolf Magnus, A001.468University Medical Center UtrechtUtrechtThe Netherlands
  2. 2.F. Hoffmann-La Roche, Neuroscience DTABaselSwitzerland
  3. 3.Child and Adolescent NeuroPsychiatry UnitUniversity Campus Bio-MedicoRomeItaly
  4. 4.Department of Experimental NeurosciencesIRCCS Fondazione Santa LuciaRomeItaly
  5. 5.Mafalda Luce Center for Pervasive Developmental DisordersMilanItaly
  6. 6.Discovery Neuroscience ResearchLilly Research Laboratories, Eli Lilly & Co. Ltd, Erl Wood ManorEnglandUK
  7. 7.Department of Cognitive NeuroscienceRadboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and BehaviorNijmegenThe Netherlands

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