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Research and training in autism spectrum disorder to catalyze the next genomic and neuroscience revolutions

Molecular Psychiatry volume 26, pages 1429–1431 (2021)Cite this article

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Autism spectrum disorder (ASD) is a group of neuropsychiatric conditions that manifest in early development and are characterized by deficits in social behavior and communication, along with restricted and repetitive patterns of behavior and interests or atypical response to sensory information. Once considered a rare disorder, recent prevalence estimates of ASD are as high as 1 in 54 [1]. Although the burden of ASD is high for individuals and families, limited progress has been made in understanding etiologies, underlying biological mechanisms, biomarkers, or pharmacological intervention [2].

Twin and family studies have long implicated genetic risk in ASD, with the most recent work suggesting a nearly 15-fold increase in risk in younger siblings of a child with ASD [3]. When the CSHL course began in 2007, the first copy number variants (CNVs) had recently been described as contributing to ASD risk [4], and there were no high-confidence ASD risk genes. In contrast, we now understand that CNVs contribute to risk in nearly 10% of children with ASD, and more than 100 genes have been implicated by identification of multiple de novo, likely gene-disrupting single-nucleotide variants (SNVs) [5]. Individually, each of these CNVs and SNVs is quite rare, with none accounting for more than 1% of cases, but, collectively, they contribute to risk in 15–20% of affected children.

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Fig. 1: The 2019 Banbury Course on Autism Spectrum Disorders at Cold Spring Harbor Laboratory.

References

  1. Maenner MJ, Shaw KA, Baio J, EdS, Washington A, Patrick M, et al. Prevalence of autism spectrum disorder among children aged 8 years—Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016. MMWR Surveill Summ. 2020;69:1–12.

    Article  Google Scholar 

  2. Lord C, Brugha TS, Charman T, Cusack J, Dumas G, Frazier T, et al. Autism spectrum disorder. Nat Rev Dis Prim. 2020;6:5.

    Article  Google Scholar 

  3. Szatmari P, Chawarska K, Dawson G, Georgiades S, Landa R, Lord C, et al. Prospective longitudinal studies of infant siblings of children with autism: lessons learned and future directions. J Am Acad Child Adolesc Psychiatry. 2016;55:179–87.

    Article  Google Scholar 

  4. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, et al. Strong association of de novo copy number mutations with autism. Science. 2007;316:445–9.

    Article  CAS  Google Scholar 

  5. Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell. 2020;180:568–584 e523.

    Article  CAS  Google Scholar 

  6. Sandin S, Schendel D, Magnusson P, Hultman C, Suren P, Susser E, et al. Autism risk associated with parental age and with increasing difference in age between the parents. Mol Psychiatry. 2016;21:693–700.

    Article  CAS  Google Scholar 

  7. Conde-Agudelo A, Rosas-Bermudez A, Norton MH. Birth spacing and risk of autism and other neurodevelopmental disabilities: a systematic review. Pediatrics. 2016;137:e20153482.

    Article  Google Scholar 

  8. Modabbernia A, Velthorst E, Reichenberg A. Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses. Mol autism. 2017;8:13.

    Article  Google Scholar 

  9. Kwon CH, Luikart BW, Powell CM, Zhou J, Matheny SA, Zhang W, et al. Pten regulates neuronal arborization and social interaction in mice. Neuron. 2006;50:377–88.

    Article  CAS  Google Scholar 

  10. Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, et al. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med. 2019;25:1477–87.

    Article  CAS  Google Scholar 

  11. Pasca SP. The rise of three-dimensional human brain cultures. Nature. 2018;553:437–45.

    Article  CAS  Google Scholar 

  12. Parikshak NN, Gandal MJ, Geschwind DH. Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders. Nat Rev Genet. 2015;16:441–58.

    Article  CAS  Google Scholar 

  13. Berry-Kravis EM, Lindemann L, Jonch AE, Apostol G, Bear MF, Carpenter RL, et al. Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome. Nat Rev Drug Discov. 2018;17:280–99.

    Article  CAS  Google Scholar 

Download references

Acknowledgements

Cold Spring Harbor Laboratory and the Nancy Lurie Marks Family Foundation for supporting the workshop.

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Authors and Affiliations

  1. Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA

    Sergiu P. Paşca

  2. Stanford Human Brain Organogenesis Program, Stanford University, Stanford, CA, USA

    Sergiu P. Paşca

  3. Department of Psychiatry, Columbia University, New York, NY, USA

    Jeremy Veenstra-VanderWeele

  4. Child Study Center, Yale University School of Medicine, New Haven, CT, USA

    James C. McPartland

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  1. Sergiu P. Paşca
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  3. James C. McPartland
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Correspondence to Sergiu P. Paşca.

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Conflict of interest

JCM has received funding from Janssen Research and Development, receives book royalties from Guilford, Springer, and Lambert Press, and is a consultant with Blackthorn Therapeutics. JV has served on Advisory Boards for Roche, Novartis, and SynapDx. He has received research funding from Roche, Novartis, SynapDx, Seaside Therapeutics, and Forest. He has received editorial stipends from Springer and Wiley. SPP has been consulting for Stem Cell Technologies.

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Paşca, S.P., Veenstra-VanderWeele, J. & McPartland, J.C. Research and training in autism spectrum disorder to catalyze the next genomic and neuroscience revolutions. Mol Psychiatry 26, 1429–1431 (2021). https://doi.org/10.1038/s41380-020-0830-5

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