期刊
LANCET NEUROLOGY
卷 14, 期 11, 页码 1109-1120出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/S1474-4422(15)00044-7
关键词
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资金
- National Institute of Mental Health [5R01 MH100027, 5P50 HD055784, 5R01 MH094714, 5R01 MH100028, U01 MH100239]
- Simons Foundation [206744, 274624]
- Overlook International Foundation
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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