Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015 Dec;4(1):37.
doi: 10.1186/s40169-015-0078-x. Epub 2015 Dec 14.

Pediatric asthma and autism-genomic perspectives

Sunghee Oh  1 , Hong Ji  2 , Drew Barzman  3 , Ping-I Lin  4 , John Hutton  5
Affiliations

Pediatric asthma and autism-genomic perspectives

Sunghee Oh et al. Clin Transl Med. 2015 Dec.

Abstract

High-throughput technologies, ranging from microarrays to NexGen sequencing of RNA and genomic DNA, have opened new avenues for exploration of the pathobiology of human disease. Comparisons of the architecture of the genome, identification of mutated or modified sequences, and pre-and post- transcriptional regulation of gene expression as disease specific biomarkers are revolutionizing our understanding of the causes of disease and are guiding the development of new therapies. There is enormous heterogeneity in types of genomic variation that occur in human disease. Some are inherited, while others are the result of new somatic or germline mutations or errors in chromosomal replication. In this review, we provide examples of changes that occur in the human genome in two of the most common chronic pediatric disorders, autism and asthma. The incidence and economic burden of both of these disorders are increasing worldwide. Genomic variations have the potential to serve as biomarkers for personalization of therapy and prediction of outcomes.

Keywords: Asthma; Autism; Genomic variation; Pathobiology; Pediatric disorders; Transcription.

PubMed Disclaimer

References

    1. Baxter AJ, Brugha TS, Erskine HE, Scheurer RW, Vos T, Scott JG. The epidemiology and global burden of autism spectrum disorders. Psychol Med. 2015;45:601–613. doi: 10.1017/S003329171400172X. - DOI - PubMed
    1. Loftus PA, Wise SK. Epidemiology and economic burden of asthma. Int Forum Allergy Rhinol. 2015; Suppl 1:S7-10 - PubMed
    1. Krumm N, Sudmant PH, Ko A, O’Roak BJ, Malig M, Coe BP, et al. Copy number variation detection and genotyping from exome sequence data. Genome Res. 2012;22:1525–1532. doi: 10.1101/gr.138115.112. - DOI - PMC - PubMed
    1. Devlin B, Scherer SW. Genetic architecture in autism spectrum disorder. Curr Opin Genet Dev. 2012;22:229–237. doi: 10.1016/j.gde.2012.03.002. - DOI - PubMed
    1. 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;316:445–449. doi: 10.1126/science.1138659. - DOI - PMC - PubMed