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:
TAG: Speeding the search for elusive chromosomal errors

(Date:4/1/2015)... OXFORD, Conn. , Apr. 1, 2015  NXT-ID, ... a biometric authentication company focused on the growing mobile ... number of Wocket smart wallets is underway to early ... early access group includes usage at retail outlets including ... CVS Pharmacy. Users report Wocket was accepted at all ...
(Date:3/30/2015)... Mar. 26, 2015 Research and Markets ... "Global Gesture Recognition Market in Automotive Sector 2014-2018" ... forecast the Global Gesture Recognition market in Automotive Sector ... period 2013-2018. Gesture recognition is the ability ... gestures of an individual. Gesture recognition technology can be ...
(Date:3/24/2015)... 2015   NexID Biometrics LLC, whose spoof-mitigation ... today announced the beginning of shipments of version 2.0 ... The company, based in Potsdam, N.Y. ... Expo, which began here today at the Walter E. ... of its SDK boosts the accuracy rate range to ...
Breaking Biology News(10 mins):NXT-ID Reports Second Shipment of Wocket Smart Wallets Underway to Early Access Pre-order Customers and Provides User Feedback 2NXT-ID Reports Second Shipment of Wocket Smart Wallets Underway to Early Access Pre-order Customers and Provides User Feedback 3NXT-ID Reports Second Shipment of Wocket Smart Wallets Underway to Early Access Pre-order Customers and Provides User Feedback 4Global Gesture Recognition Market in Automotive Sector Report 2015 - Growing Number of Partnerships 2NexID Begins Shipments Of Version 2.0 Fake-Finger-Detection Solution 2
(Date:4/27/2015)... 27, 2015  For about a century, a ... ability to utilize and catabolize glucose at a ... is called the ,Warburg phenomenon", that is an ... oxygen presence, leading to enhanced lactate generation. Even ... choose glucose fermentation. A variety of such abnormalities ...
(Date:4/27/2015)... - iCo Therapeutics ("iCo" or "the Company") (TSX-V: ICO) ... year ended December 31, 2014. Amounts, unless specified ... under International Financial Reporting Standards ("IFRS"). ... provide the outcome management and investors had hoped ... Therapeutics", said Andrew Rae , President & ...
(Date:4/27/2015)... HEIDELBERG , Alemania, April 27, 2015 ... patente para un nuevo receptor utilizando tecnología de descubrimiento ... no cubierta en el tratamiento de millones de pacientes ... anunciado hoy que ha recibido una patente en Europa ... el descubrimiento de Molecular Health de que EPHB4 es ...
(Date:4/27/2015)... Calif. (PRWEB) April 27, 2015 Dr. ... drug and chemical toxicity carries implications for advancing the ... April 28 at National University , the second-largest ... presentation by Dr. Hanzlik, a professor at the University ... metabolism and drug design, starts at 5 p.m. and ...
Breaking Biology Technology:Study Indicates Cancer Cells Alter Glucose Metabolism to Enhance Energy Production and Cell Growth 2iCo Therapeutics Announces Year End 2014 Financial Results 2iCo Therapeutics Announces Year End 2014 Financial Results 3iCo Therapeutics Announces Year End 2014 Financial Results 4Molecular Health obtiene la patente para un nuevo receptor 2Molecular Health obtiene la patente para un nuevo receptor 3Dr. Robert Hanzlik Discusses Pharmaceutical Testing Models at Event Hosted by National University 2Dr. Robert Hanzlik Discusses Pharmaceutical Testing Models at Event Hosted by National University 3
Cached News: