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:5/20/2016)... , May 20, 2016  VoiceIt is ... partnership with VoicePass. By working together, ... experience.  Because VoiceIt and VoicePass take slightly different ... engines increases both security and usability. ... excitement about this new partnership. "This ...
(Date:5/3/2016)... 3, 2016  Neurotechnology, a provider of high-precision ... Automated Biometric Identification System (ABIS) , a complete ... MegaMatcher ABIS can process multiple complex biometric transactions ... of fingerprint, face or iris biometrics. It leverages ... and MegaMatcher Accelerator , which have been ...
(Date:4/26/2016)... April 27, 2016 Research ... Multi-modal Biometrics Market 2016-2020"  report to their offering.  ... The analysts forecast the global multimodal ... 15.49% during the period 2016-2020.  Multimodal ... sectors such as the healthcare, BFSI, transportation, automotive, ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... June 23, 2016 A person commits a crime, ... scene to track the criminal down. An outbreak ... and Drug Administration (FDA) uses DNA evidence to track down ... Sound far-fetched? It,s not. The FDA has increasingly used ... investigations of foodborne illnesses. Put as simply as possible, whole ...
(Date:6/23/2016)... , June 23, 2016  The Prostate Cancer Foundation (PCF) ... precise treatments and faster cures for prostate cancer. Members of the Class of ... 15 countries. Read More About the Class of 2016 ... ... ...
(Date:6/23/2016)... ... 2016 , ... Supplyframe, the Industry Network for electronics hardware ... . Located in Pasadena, Calif., the Design Lab’s mission is to bring together ... built and brought to market. , The Design Lab is Supplyframe’s physical representation ...
(Date:6/23/2016)... 23, 2016 Apellis Pharmaceuticals, Inc. today ... trials of its complement C3 inhibitor, APL-2. The ... ascending dose studies designed to assess the safety, ... injection in healthy adult volunteers. Forty ... a single dose (ranging from 45 to 1,440mg) ...
Breaking Biology Technology:
Cached News: