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:3/10/2016)... --  Unisys Corporation (NYSE: UIS ) today announced ... testing its biometric identity solution at the Otay Mesa border ... identify certain non-U.S. citizens leaving the country. ... determine the efficiency and accuracy of using biometric technologies in ... until May 2016. --> the United States ...
(Date:3/9/2016)... Nigeria . Recently, ... 23,000 public service employees either did not exist with ... unlawfully.    --> Nigeria . ... than 23,000 public service employees either did not exist ... salary unlawfully.    --> DERMALOG, the biometrics ...
(Date:3/8/2016)... RALEIGH, N.C. , March 8, 2016 /PRNewswire/ ... biometric sensor technology, today announced it has secured ... led by GII Tech, a new venture fund ... LLC, with additional participation from existing investors TDF ... use the funds to continue its triple-digit growth ...
Breaking Biology News(10 mins):
(Date:5/27/2016)... -- At present, the Biotech sphere is in ... that volatility is what makes this industry interesting to consider. ... Corp. (NASDAQ: SNTA ), CTI BioPharma Corp. (NASDAQ: ... ), and Heat Biologics Inc. (NASDAQ: HTBX ). ... for these stocks at: http://www.activewallst.com/register/ ...
(Date:5/26/2016)... Despite the volatility that continues to ... Today,s pre-market research on ActiveWallSt.com directs the investor community,s focus ... RDUS ), Cerus Corp. (NASDAQ: CERS ), ... Prime Therapeutics Inc. (NASDAQ: FPRX ). Register with ... http://www.activewallst.com/ On Wednesday, shares in ...
(Date:5/25/2016)... ... May 25, 2016 , ... Lajollacooks4u has become a ... consistently been rated one of its top attractions. Fortune 500 companies, such as ... in a unique and intimate team-building experience. , Each event kicks off with an ...
(Date:5/25/2016)... ... May 25, 2016 , ... ... issued by the Office of the National Coordinator for Health IT (ONC) outlining ... if clinically relevant data were available when and where it was needed. The ...
Breaking Biology Technology: