Navigation Links
New genes contributing to autism and related neurodevelopmental disorders uncovered
Date:4/20/2012

BOSTON, MAWhen chromosomes replicate, sometimes there is an exchange of genetic material within a chromosome or between two or more chromosomes without a significant loss of genetic material. This exchange, known as a balanced chromosomal abnormality (BCA), can cause rearrangements in the genetic code.

Researchers from 15 institutions in three countries including Brigham and Women's Hospital (BWH), Massachusetts General Hospital, Harvard Medical School, and the Broad Institute found that due to these rearrangements, BCAs harbor a reservoir of disruptions in the code that could lead to autism and other neurodevelopmental disorders. The researchers also uncovered 22 new genes that may contribute to or increase the risk of autism or abnormal neurodevelopment.

The study will be published in the print issue of Cell on April 27, 2012.

The researchers used a strategy that involved directly sequencing BCAs to reveal genes at the breakpoints and show that these genes are related to autism and other neurodevelopmental disorders.

This study is part of a larger, ongoing collaborative endeavor, the Developmental Genome Anatomy Project (DGAP), to identify genes critical in human development.

The researchers discovered that the genetic code can be disrupted at various distinct sites and still result in autism. The disruptions occur in several different groups of genes, including those already individually suspected to be associated with abnormal neurodevelopment; those which illuminate a single gene as important in large regions previously defined as genomic disorders; as well as those associated with psychiatric disorders that can have much later onset than neurodevelopmental disorders.

"BCAs provide a unique opportunity to pinpoint a gene and validate it in a disorder," said Cynthia Morton, PhD, BWH director of cytogenetics, and principal investigator of DGAP. "These discoveries can illuminate biological pathways that may be a window to a new therapy. We are all grateful to the individuals and their families who make these fundamental findings possible through their participation as subjects in these studies."


'/>"/>

Contact: Marjorie Montemayor-Quellenberg
mmontemayor-quellenberg@partners.org
617-534-2208
Brigham and Women's Hospital
Source:Eurekalert

Related biology news :

1. £2 million study to reveal workings of dementia genes
2. Jefferson scientists deliver toxic genes to effectively kill pancreatic cancer cells
3. NIHs Genes, Environment and Health Initiative adds 6 studies
4. Scientist plans to test for blood pressure genes affected by age
5. Fishy future written in the genes
6. New tool probes function of rice genes
7. Brainy genes, not brawn, key to success on mussel beach
8. Researchers continue to find genes for type 1 diabetes
9. Genes that control cell death fingered in age-related hearing loss
10. Mapping a clan of mobile selfish genes
11. NJIT professor finds engineering technique to identify disease-causing genes
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/11/2017)... , April 11, 2017 NXT-ID, ... security technology company, announces the appointment of independent Directors Mr. ... to its Board of Directors, furthering the company,s corporate ... ... NXT-ID, we look forward to their guidance and benefiting from ...
(Date:4/4/2017)... , April 4, 2017   EyeLock LLC , ... that the United States Patent and Trademark Office (USPTO) ... covers the linking of an iris image with a ... and represents the company,s 45 th issued patent. ... is very timely given the multi-modal biometric capabilities that ...
(Date:3/29/2017)...  higi, the health IT company that operates the ... , today announced a Series B investment from ... The new investment and acquisition accelerates higi,s strategy to ... population health activities through the collection and workflow integration ... collects and secures data today on behalf of over ...
Breaking Biology News(10 mins):
(Date:6/26/2017)... ... June 26, 2017 , ... Two new members were ... Meeting on June 9, 2017: Jeremy Nowak, President, J Nowak Strategy and Michele Masucci, ... announced the election of Glen N. Gaulton and Kenneth L. Kring, and re-election of ...
(Date:6/23/2017)... , ... June 23, 2017 , ... ... provider, announced the latest version of LimitLIS®, its rapidly growing Laboratory Information System. ... up user adoption, ensure installation integrity, and provide more customization options. Each of ...
(Date:6/23/2017)... ... June 23, 2017 , ... DocCafe.com ... six of their healthcare job boards. As the largest network of professional ... and biotechnicians, DocCafe.com and the MedJobCafe.com Health Network work to match the ...
(Date:6/22/2017)... ... June 21, 2017 , ... Beaker, the ... talent in the life sciences industry, today announces a strategic partnership with Alcami ... takes full advantage of Beaker’s expertise in executive recruitment solutions, providing Alcami with ...
Breaking Biology Technology: