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:1/26/2017)... , Jan. 26, 2017  Crossmatch, a leading provider ... new solution aimed at combatting fraud, waste and abuse ... introduced at the Action on Disaster Relief conference in ... point for UN agencies and foreign assistance organizations throughout ... waste and abuse are a largely unacknowledged problem in ...
(Date:1/25/2017)... The Elements of Enterprise Information Security ... of a comprehensive set of business processes and ... identities and providing a secured and documented access ... number of programs opted by enterprises to maintain ... processes and changing policies. However, there are some ...
(Date:1/24/2017)... 24, 2017  It sounds simple and harmless—an ... monitors vital signs and alerts parents on their ... saturation level drops. But pediatric experts argue that ... with no evidence of medical benefits, especially to ... aggressively to parents of healthy babies, promising peace ...
Breaking Biology News(10 mins):
(Date:2/16/2017)...   Capricor Therapeutics, Inc. (NASDAQ: ... first-in-class biological therapies for cardiac and other medical ... terminate its license agreement with the Mayo Clinic ... "Our decision to return these rights ... efforts to advance our core cell and exosome-based ...
(Date:2/16/2017)...  Champions Oncology, Inc. (NASDAQ: CSBR ), ... advanced technology solutions and products to personalize the development ... of new cohorts of PDX models to their existing ... Champions, product line in hepatocellular cancer, breast cancer, castrate ... non-small cell lung cancer (including EGFR mutation; ALK/ROS1 positive) ...
(Date:2/16/2017)... ... February 16, 2017 , ... ... extended its industry leading Biochemistry Services specifically targeting the rapidly growing needs ... methods for the biochemical and biosimilar characterization , product-related impurity characterization, ...
(Date:2/15/2017)... Inc. (Vanda) (NASDAQ: VNDA), today announced financial and ... year ended December 31, 2016. "2016 ... continued to demonstrate strong growth in our commercial ... Mihael H. Polymeropoulos, M.D., Vanda,s President and CEO. ... milestones underscores Vanda,s commitment to bringing important new ...
Breaking Biology Technology:
Cached News: