HOME >> BIOLOGY >> NEWS
Speeding the search for elusive chromosomal errors

A pediatric research team has used commercially available gene chips to scrutinize all of a patient's chromosomes to identify small defects that cause genetic diseases. Because currently used genetic tests usually cannot detect these abnormalities, the new research may lead to more accurate diagnosis of congenital diseases, including puzzling disorders that lead to mental retardation.

"For years, many children who have multiple congenital problems, such as developmental delays, heart defects and facial abnormalities, have gone undiagnosed because they may not have an easily recognizable syndrome," said study leader Tamin H. Shaikh, Ph.D., a molecular geneticist at The Children's Hospital of Philadelphia.

"Until recently, our laboratory technology was not sufficiently refined to detect many of these small rearrangements in chromosomes," added Dr. Shaikh. "Now we have a better tool for finding the abnormal gene or genes that give rise to a disorder." The research is published in the May 2006 issue of Human Mutation.

For many of these rare disorders caused by small errors in chromosomes, improved diagnosis does not mean that physicians can provide more effective treatments, at least not immediately. In the long run, adds Dr. Shaikh, better knowledge of the underlying genetic cause of a disease may provide targets for designing future therapies.

Conventional genetic tests have limited resolving power in detecting many chromosomal arrangements. In karyotyping, chromosomes are stained and examined under microscopes, but only larger rearrangements are visible, such as extensive deletions, or the presence of an extra chromosome, as occurs in Down syndrome. Another technique, subtelomere analysis, finds smaller, submicroscopic abnormalities, but only in the regions directly below the telomeres, at the end of each chromosome.

Recent advances in diagnostic gene chips, used by Dr. Shaikh's team, allow more precise analysis of very small
'"/>

Contact: John Ascenzi
Ascenzi@email.chop.edu
267-426-6055
Children's Hospital of Philadelphia
12-Jun-2006


Page: 1 2 3 4

Related biology news :

1. Two studies: Speeding development of novel tracer for prostate cancer
2. Speeding discovery of the human cancer genome
3. NIH gives $8M to University of Pittsburgh School of Medicine for myositis research
4. Saudi Arabias KAUST names WHOI first research partner
5. Multinational research: protecting ecology means understanding people, too
6. Newly created cancer stem cells could aid breast cancer research
7. Gilbert Foundation and American Fed for Aging Research award grants on Alzheimers disease
8. Research shows skeleton to be endocrine organ
9. Carnegie Mellons Peter Adams receives EPA research grant
10. Research aims to identify markers for menopausal women at risk for deadly blood clot
11. Almac Diagnostics announces pioneering genetic research on ductal carcinoma in situ

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:4/24/2017)... WASHINGTON , April 24, 2017 ... counsel and partner with  Identity Strategy Partners, LLP ... "With or without President Trump,s March 6, ... Foreign Terrorist Entry , refugee vetting can be instilled ... refugee resettlement. (Right now, all refugee applications are ...
(Date:4/17/2017)... MELBOURNE, Florida , April 17, 2017 ... security technology company, announces the filing of its 2016 Annual Report ... Securities and Exchange Commission. ... Report on Form 10-K is available in the Investor Relations section ... well as on the SEC,s website at http://www.sec.gov . ...
(Date:4/11/2017)... April 11, 2017 Crossmatch®, a globally-recognized ... solutions, today announced that it has been awarded ... Projects Activity (IARPA) to develop next-generation Presentation Attack ... "Innovation has been a driving force within ... will allow us to innovate and develop new ...
Breaking Biology News(10 mins):
(Date:5/18/2017)... ... May 17, 2017 , ... USDM Life ... for the life sciences and healthcare industries, is honored that Jay Crowley ... Devices conference in Brussels, Belgium. , Crowley played a crucial role in the ...
(Date:5/18/2017)... ... May 17, 2017 , ... G-CON ... their Chief Executive Officer, Maik Jornitz, was recognized as a Top 10 Industry ... celebrates 100 individuals “involved in bettering the pharma industry and bringing life-changing medicines ...
(Date:5/18/2017)... ... ... Sherley, was notified earlier this year that his company Asymmetrex had been selected ... Silicon Review , he was not surprised as others might be. Sherley says, “I ... Silicon Valley was particularly meaningful. Our selection by The Silicon Review may ...
(Date:5/16/2017)... ... May 16, 2017 , ... ... its new ProxiMeta™ Hi-C metagenomic deconvolution service. ProxiMeta enables researchers to obtain ... DNA extraction—speeding research insights at lower cost. , “We’re very excited about ...
Breaking Biology Technology:
Cached News: