Psychopharmacology

, Volume 231, Issue 6, pp 1063–1078

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

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

DOI: 10.1007/s00213-013-3334-z

Cite this article as:
Vorstman, J.A.S., Spooren, W., Persico, A.M. et al. Psychopharmacology (2014) 231: 1063. doi:10.1007/s00213-013-3334-z

Abstract

Rationale

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.

Objectives

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 clinicaltrials.gov 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.

Conclusions

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.

Keywords

AutismGenesNeurobiologyPharmaceutical compoundsBiomarker

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Jacob A. S. Vorstman
    • 1
  • 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