CombiMatrix Molecular Diagnostics Launches Microarray Test for Detection of Autism Spectrum Disorder

CombiMatrix  has completed the clinical validation of the  BAC array CGH based clinical microarray tests. ATScan is designed to detect known genomic copy-number variations  associated with Autism Spectrum Disorder and this test is now available to physicians and consumers.

microarray-based Clinical diagnostic tests

 Pathwork Diagnostics, and the Virginia Commonwealth University School of Medicine has initiated an investigational study Genomics-Based diagnostic Test to determine a tumor’s origin so that tissue-specific management can begin.

The test uses microarrays from Affymetrix

More news on Pathworks website 

Affymetrix expands into personalized medicine The next big thing

Affymetrix expands into personalized medicine! Why because The next big thing in health care? is You the individual

personalized medicine is the place step every one wants to be. Roche recently went after Nimblegen for a small foothold in this developing ssicne field, Now its the turn of Affymetrix the leader in microarray DNA chips.

The company is trying to get ahead of the market curve by partnering with drug companies that are making precisely targeted medicines, tailored for patients who have specific gene variations

the company opened the Affymetrix Clinical Services Laboratory to analyze the genes in blood and saliva samples for pharmaceutical companies, diagnostic laboratory businesses and hospitals

Microarray to detect mutations in largest Human Gene

The average human gene consists of 3000 bases, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million bases. Residing at Chromosome 4 it has long been of interest to the medical community because its the gene responsible for huntington’s disease, polycystic kidney disease, a form of muscular dystrophy and a variety of other inherited disorders. Chromosome 2 is noteworthy for being the second largest human chromosome, trailing only chromosome 1 in size. It is also home to the gene with the longest known, protein-coding sequence – a 280,000 base pair gene that codes for a muscle protein, called titin, which is 33,000 amino acids long.

Now reseacrhers at Emory university has developed a microarray based test to chek for mutations in this gene. The current test do not detect all types of mutation that affects 1 in 3500 males according to the university wesbite.

Mutations in the dystrophin such as point mutations in a sequence of DNA can result in mistakes in gene  expression and nonfunctional proteins that causes Duchenne muscular dystrophy (DMD).

A detailed presentation of the advantages of the test is available at the Emory Genetics Testing website. The test offeredon the Nimblegen CGH array platform gains more prominance as the company is now being acquired by Roche who has plans to dominate the clinical microarray market with its products in genetics testing space

The emory university Genetics testing lab offers numerous other genetic tests

12 DNA tests that Could Change Your Life-selected by Forbes

The complete list is published at forbes website

  • Breast Cancer
  • Adult-Onset Diabetes
  • Obesity
  • Drug Metabolism
  • Crohn’s Disease
  • Prostate Cancer
  • Duchenne Muscular Dystrophy
  • Rett Syndrome
  • Macular Degeneration
  • Alzheimer’s Disease
  • Heart Attack

Gene Testing:

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Microarray based DRUG DISCOVERY and CLINICAL DIAGNOSIS and biosensor designed to identify viruses

 Prof. David Dandy of Colorado State University chemical and biological engineering has proven that called microarray assays can be used for biomedical disease and drug screening assays could rapidly increase drug discovery,

Although not ready for hospital or office use, microarrays represent a novel miniaturized multi-spot diagnostic format that has huge potential for patient diagnosis if found reliable and approved.

Smaller is often better, according to a new scientific study that appears this week in the Proceedings of the National Academy of Sciences by Professor David Dandy, Dr. David Dandyhead of the Department of Chemical and Biological Engineering at Colorado State. Dandy co-wrote the paper with David Grainger, a former chemistry professor at Colorado State who now is chair of the Department of Pharmaceutics & Pharmaceutical Chemistry at the University of Utah.

The study was funded by a multi-year, $2.5 million grant from the National Institutes of Health.

“This work is extremely useful from an industrial perspective,” said Michael Lochhead, chief scientist at Accelr8 Technology Corp., a Denver-based developer of innovative materials and instrumentation for advanced applications in medical instrumentation, basic research, drug discovery, and bio-detection.

The critical importance of this work is illustrated by the fact that, to date, a single microarray-based test has been approved by the FDA for clinical use.

According to Roche, the manufacturer of this diagnostic microarray, “This test analyzes a patient’s Cytochrome P450 2D6 and 2C19 genotypes from genomic DNA extracted from a blood sample. Test results will allow physicians to consider unique genetic information from patients in selecting medications and doses of medications for a wide variety of common conditions such as cardiac diseases, pain and cancer.”

 

 

‘Personalized Medicine’ Goal of Human Genetics Initiative

Oregon Health & Science University effort, launched 25-April 2007 during National DNA Day, will meld genetics and clinical care

OHSU today is launching the Human Genetics Initiative (HGI), an effort that brings together the university’s vast array of genetics research resources and brainpower, and applies them in a health care setting. It will allow the university to seek new ways of understanding the role of genetics in common disorders like obesity, hypertension, osteoporosis and diabetes.

The goal of HGI is to accelerate the translation of scientific knowledge to patient care by recruiting new geneticists, building a campuswide bank of advanced technology, developing new educational programs for the next generation of health care providers, and, eventually, establishing a novel delivery model for genetics health care.

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