Learn More

So What is Autworks Anyway?

Autworks is a research site devoted to the genetic causes of Autism Spectrum Disorder.
We built it to provide leads and solutions to researchers like us, answers and insight to families, and to enable faster flow of information between research and reality.

We built Autworks to lay the foundation for a new community, one that is a mixture of medical researchers and non-researchers committed to diagnosing and treating the disorder.

Autism, as a spectrum disorder, has many faces. Behaviors range from mild to severe and vary dramatically among the three core social domains used to diagnose a child as being on, or off, the spectrum. That variation translates into massive amounts of genetic heterogeneity that can stymie standard methods of analysis and that have so far prevented any clear solutions for diagnosis and treatment.

One potential solution that Autworks embodies is in comparative analysis of autism with overlapped, but better understood, human diseases and disorders. Autism's behaviors overlap with that of many other neurological, and non-neurological diseases. In several cases that have been studied by our lab and others, these behavioral similarities are a reflection of genetic similarities. If we can systematically identify and characterize all similarities among a wide array of human disorders and diseases, we will be able to build a succinct mapping between the genetics and the behaviors of Autism, enabling us to literally redefine the disease and to find the genetic pieces that translate into real, clinically actionable tools for diagnosis and treatment.

Learn more about the Autworks team here.

More information about our work and mission can be found at the Wall Lab website.

Error | autworks

Status message

There is new syndicated content from pubmed: autism and genetics.

Error message

  • Warning: Cannot modify header information - headers already sent by (output started at /www/autworks.hms.harvard.edu/docroot/includes/common.inc:2575) in drupal_send_headers() (line 1221 of /www/autworks.hms.harvard.edu/docroot/includes/bootstrap.inc).
  • PDOException: SQLSTATE[22001]: String data, right truncated: 1406 Data too long for column 'author' at row 1: INSERT INTO {aggregator_item} (title, link, author, description, guid, timestamp, fid) VALUES (:db_insert_placeholder_0, :db_insert_placeholder_1, :db_insert_placeholder_2, :db_insert_placeholder_3, :db_insert_placeholder_4, :db_insert_placeholder_5, :db_insert_placeholder_6); Array ( [:db_insert_placeholder_0] => A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. [:db_insert_placeholder_1] => http://www.ncbi.nlm.nih.gov/pubmed/25937446?dopt=Abstract [:db_insert_placeholder_2] => Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA, 16p11.2 European Consortium, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A [:db_insert_placeholder_3] => <table border="0" width="100%"><tr><td align="left"><a href="http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(15)00139-1"><img src="//www.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--linkinghub.elsevier.com-ihub-images-cellhub.gif" border="0"/></a> </td><td align="right"><a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=Link&amp;LinkName=pubmed_pubmed&amp;from_uid=25937446">Related Articles</a></td></tr></table> <p><b>A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.</b></p> <p>Am J Hum Genet. 2015 May 7;96(5):784-96</p> <p>Authors: Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA, 16p11.2 European Consortium, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A</p> <p>Abstract<br/> The 16p11.2 600 kb copy-number variants (CNVs) are associated with mirror phenotypes on BMI, head circumference, and brain volume and represent frequent genetic lesions in autism spectrum disorders (ASDs) and schizophrenia. Here we interrogated the transcriptome of individuals carrying reciprocal 16p11.2 CNVs. Transcript perturbations correlated with clinical endophenotypes and were enriched for genes associated with ASDs, abnormalities of head size, and ciliopathies. Ciliary gene expression was also perturbed in orthologous mouse models, raising the possibility that ciliary dysfunction contributes to 16p11.2 pathologies. In support of this hypothesis, we found structural ciliary defects in the CA1 hippocampal region of 16p11.2 duplication mice. Moreover, by using an established zebrafish model, we show genetic interaction between KCTD13, a key driver of the mirrored neuroanatomical phenotypes of the 16p11.2 CNV, and ciliopathy-associated genes. Overexpression of BBS7 rescues head size and neuroanatomical defects of kctd13 morphants, whereas suppression or overexpression of CEP290 rescues phenotypes induced by KCTD13 under- or overexpression, respectively. Our data suggest that dysregulation of ciliopathy genes contributes to the clinical phenotypes of these CNVs.<br/> </p><p>PMID: 25937446 [PubMed - indexed for MEDLINE]</p> [:db_insert_placeholder_4] => PubMed:25937446 [:db_insert_placeholder_5] => 1438311678 [:db_insert_placeholder_6] => 1 ) in aggregator_save_item() (line 153 of /www/autworks.hms.harvard.edu/docroot/modules/aggregator/aggregator.processor.inc).

Error

The website encountered an unexpected error. Please try again later.