Navigation Links
Speeding the search for elusive chromosomal errors

NA alterations throughout all of a patient's chromosomes.

Gene Chips Detect Tiny Structural Defects in Genomic Diseases

Conditions that originate in alterations of chromosome architecture have been called "genomic diseases." The smallest of these structural defects are microdeletions, a loss of a small amount of genetic material, or microduplications, an excess of genetic material.

Individually, many genomic diseases are rare, but collectively, they may occur in one in 1,000 live births. Frequently the gene aberrations harm multiple organ systems. For example, patients with chromosome 22q11.2 deletion syndrome may have heart defects, impaired immunity and developmental delay. Deletions of several genes in Prader-Willi syndrome may cause obesity and mental retardation.

To seek out miniscule rearrangements in chromosomes, the Children's Hospital team employed the types of gene chips, or microarrays, originally designed to identify genes involved in common, complex diseases like diabetes and hypertension. Microarrays contain short fragments of DNA, called oligonucleotides, that bind to complementary stretches of DNA within a sample being tested. These microarrays hold more than 100,000 DNA oligonucleotides, which allow researchers to rapidly analyze a person's whole genome -- the entire complement of DNA in a cell nucleus.

"These microarrays provide more rapid and precise results than karyotyping, and offer as much as 50 times higher resolution than other, more commonly used microarrays, such as bacterial artificial chromosome arrays," said Dr. Shaikh. "Our study is one of the first to report using these microarrays in a clinical setting to detect constitutional rearrangements which lead to severe birth defects." Constitutional rearrangements occur in all of a person's cells.

As Technology Improves, Smaller Defects Should Be Detectable

In the current paper, the research team first validated the micr
'"/>

Source:Children's Hospital of Philadelphia


Page: 1 2 3 4

Related biology news :

1. Speeding discovery of the human cancer genome
2. Speeding fingertip discovery -- 20 years of protein info in 1 place
3. Researchers discover way to make cells in the eye sensitive to light
4. Quantum Dots Research Leads to New Knowledge about Protein Binding in Plants
5. Columbia research lifts major hurdle to gene therapy for cancer
6. Researchers find how protein allows insects to detect and respond to pheromones
7. Researchers Uncover Key Step In Manufacture of Memory Protein
8. Research advances quest for HIV-1 vaccine
9. Research on Worms Yields Clues on Aging
10. U of M researcher examines newly emerging deadly disease
11. NYU researchers simulate molecular biological clock
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Speeding the search for elusive chromosomal errors

(Date:12/11/2014)... DUBLIN , Dec. 09, 2014 Research ... http://photos.prnewswire.com/prnh/20130307/600769 ( http://www.researchandmarkets.com/research/9ql3kr/biometrics_market ) ... Market in India 2015-2019" report to their ... in this market is the adoption of multimodal ... one characteristic of an individual for verification and ...
(Date:12/10/2014)... , Dec. 9, 2014  Wake Forest Baptist Medical Center ... for its School of Medicine. Funding for this $50 ... campaign that will be publicly launched next summer. ... in the former 60 series R.J. Reynolds Tobacco Company ... Construction will begin immediately with plans to be ready ...
(Date:12/5/2014)... -- Tute Genomics, a leader in cloud-based solutions for genome ... led by UK-based Eurovestech. Peak Ventures and a number ... "We are at a pivotal time in ... seeks new approaches for the diagnosis, treatment and prevention ... and CEO of Tute Genomics. "One of the main ...
Breaking Biology News(10 mins):Biometrics Market in India 2015-2019: Key Vendors are 3M Cogent, NEC, Safran and Suprema 2Wake Forest Baptist to Build New Medical Education Facility In Wake Forest Innovation Quarter 2Wake Forest Baptist to Build New Medical Education Facility In Wake Forest Innovation Quarter 3Wake Forest Baptist to Build New Medical Education Facility In Wake Forest Innovation Quarter 4Tute Genomics Raises $2.3 Million to Scale Up Cloud-Based Genome Analytics and Accelerate Personalized Medicine 2Tute Genomics Raises $2.3 Million to Scale Up Cloud-Based Genome Analytics and Accelerate Personalized Medicine 3
... BEACH, Fla. , Sept. 12, 2013 BioClaim, Inc. ... patient safety , Amerigroup Community Care of ... BioClaim,s patented biometric software at select physician offices ... to work with Amerigroup Florida," said Scott Kimmel , ...
... TEMPE, Ariz. and ROSEMONT, Ill. September 12, 2013 ... innovation, today announced that the Pac-12,s Arizona State University ... the first university research partner in a new study ... potentially groundbreaking joint research project is the first of ...
... Elsevier, a world-leading provider of scientific, technical and ... the launch of a new open access research publication ... ( JCTE ). The scope of this new ... in endocrinology, including diabetes, metabolic bone disease and osteoporosis, ...
Cached Biology News:BioClaim, Inc. Signs Biometric Software Contract with Amerigroup Florida 2BioClaim, Inc. Signs Biometric Software Contract with Amerigroup Florida 3ASU football program is first collegiate partner in TGen-Riddell concussion detection study 2ASU football program is first collegiate partner in TGen-Riddell concussion detection study 3ASU football program is first collegiate partner in TGen-Riddell concussion detection study 4
(Date:12/19/2014)... BioPlus Specialty Pharmacy (BioPlus), one of ... Nick Maroulis, Pharm.D. to the newly created position of ... this position, Dr. Maroulis will continue to manage the ... our multi-site pharmacies as the company expands. Dr. Maroulis ... time he has served in many different capacities in ...
(Date:12/19/2014)... , Dec. 19, 2014 Research and Markets ... addition of the "Technology Innovations in Smart ... http://photos.prnewswire.com/prnh/20130307/600769 ... Smart Fabrics" offers a detailed assessment on technological ... Key Findings: 1. The Smart ...
(Date:12/19/2014)... Reports from CDC show approximately ... one or more chronic health conditions - including cardiovascular ... some of these diseases, but may not eliminate the ... While implanted nerve stimulation devices today offer relief, they ... can induce side effects. , To eliminate the ...
(Date:12/19/2014)... BURLINGTON, Mass. , Dec. 18, 2014  Decision ... dental biomaterial market will grow moderately through ... implant procedures and growing awareness of dental biomaterials all ... underdeveloped markets such as China ... incomes will bring dental procedures within reach for a ...
Breaking Biology Technology:BioPlus Specialty Pharmacy Promotes Dr. Nick Maroulis to Vice President of Specialty Pharmacy Services 2Technology Innovations in Smart Fabrics (Technical Insights) 2Draper Wins GSK Funding for Smaller, Smarter Implantable Devices 2Asia Pacific Dental Biomaterial Market Will Grow Strongly Through 2023 2Asia Pacific Dental Biomaterial Market Will Grow Strongly Through 2023 3
... Madison, Wis . - Did the state of Wisconsin improperly ... installed by Menasha Corp. ? , ,The Wisconsin ... week to hear the case, and there is an estimated ... for Menasha Corp. , ,At issue is the definition of ...
... Madison, Wis. - Whether you pronounce it nitch or ... same way, and thanks in large measure to the Internet, ... Brandworks University 2007 , is centered on what some ... Internet and its low-cost distribution channel have emerged as the ...
... Madison, Wis. - Just as the Milwaukee ... contending Major League team, Wisconsin is attempting to join the ... infrastructure. , ,That building process reached another milestone with the ... annual angel capital investments, according to a new report compiled ...
Cached Biology Technology:Internet-enabled niche markets take center stage 2Internet-enabled niche markets take center stage 3Wisconsin building toward the major leagues of venture capital 2Wisconsin building toward the major leagues of venture capital 3
Bovine Coronary Artery Smooth Muscle Cells (BCASMC) (>500,000 cells)...
... This NPY Y2 antibody has been ... currently being characerized in brain. The antibody has ... appears to work better on mose tissue, although ... characterizarion in dorsal root ganglion and spinal cord ...
Bovine Brain Microvascular Endothelial Cells (BBMVEC) (>500,000 cells)...
... polyclonal to Peroxiredoxin 1 Peroxiredoxin ... whose mammalian members have been known ... and apoptosis. Many isoforms (about 50 ... amino acid sequence homology, particularly amino-terminal ...
Biology Products: