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Lancet Neurol. 2015 Nov;14(11):1109-20. doi: 10.1016/S1474-4422(15)00044-7. Epub 2015 Apr 16.

Gene hunting in autism spectrum disorder: on the path to precision medicine.

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Neurogenetics Program, Department of Neurology, and Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, CA, USA. Electronic address:
Department of Psychiatry, Langley Porter Psychiatric Institute, University of California, San Francisco, CA, USA.


Autism spectrum disorder is typical of the majority of neuropsychiatric syndromes in that it is defined by signs and symptoms, rather than by aetiology. Not surprisingly, the causes of this complex human condition are manifold and include a substantial genetic component. Recent developments in gene-hunting technologies and methods, and the resulting plethora of genetic findings, promise to open new avenues to understanding of disease pathophysiology and to contribute to improved clinical management. Despite remarkable genetic heterogeneity, evidence is emerging for converging pathophysiology in autism spectrum disorder, but how this notion of convergent pathways will translate into therapeutics remains to be established. Leveraging genetic findings through advances in model systems and integrative genomic approaches could lead to the development of new classes of therapies and a personalised approach to treatment.

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