Easy Detection of Low Level Mutations

 :: Posted by American Biotechnologist on 10-20-2014

Bio-Rad Laboratories announced the launch of new PrimePCR Assays for Droplet Digital PCR (ddPCR™). This release expands Bio-Rad’s current offering of predesigned and fully wet-lab validated assays by an additional 100 assays for copy number variation (CNV) and 92 assays for mutation detection. Bio-Rad will also be adding 5,620 mutation detection assays that were created using the same algorithms and design rules as the wet-lab validated assays.

Bio-Rad’s ddPCR technology provides an absolute measure of target DNA molecules without the need for a standard curve. Together with PrimePCR Mutation Detection Assays, this technology enables detection of one mutant molecule in a background of 2,000 wild-type molecules. Measuring these extremely low levels of mutation abundance could lead to the development of new, less invasive and more sensitive diagnostics. In addition, the high precision and absolute quantification made possible by PrimePCR ddPCR Assays enable the quantitative discrimination required to resolve small fold changes in gene copy numbers for CNV analysis.

Highly studied gene targets
Among the genes that can now be targeted using PrimePCR ddPCR Assays is paired box gene 2 (PAX2), a CNV gene target that is suspected to have both oncogenic and tumor suppression functions in ovarian cancers. Another notable CNV assay released as part of this launch detects the neurexin-1-alpha gene (NRXN1), which has been linked to a range of neurodevelopmental disorders, including autism spectrum disorders, schizophrenia, and intellectual disability.

The new mutation detection PrimePCR ddPCR Assays include those for fms-related tyrosine kinase (FLT) mutations that are observed in acute myeloid leukemia (AML) patients. Mutations in the fms-like tyrosine kinase 3 (FLT3) gene represent one of the most frequently encountered and clinically challenging classes of AML mutations. This release also includes several assays that detect mutations in the neuroblastoma RAS (NRAS) gene, including the G12V mutation that has recently been linked to poor prognosis in malignant melanoma.

PrimePCR ddPCR Assays are compatible with all Bio-Rad Droplet Digital PCR Systems, including the QX200™ AutoDG™ Droplet Digital™ PCR System.

For more information on Bio-Rad’s PrimePCR products, please visit www.bio-rad.com/PrimePCRpr.

Saving 600,000 Children’s Lives With a Bar of Soap

 :: Posted by American Biotechnologist on 10-17-2014

University Nets Huge Grant to Analyze World’s Largest Collection of Brain Scans

 :: Posted by American Biotechnologist on 10-15-2014

In a rare distinction for one university, neuroimaging world leaders and USC Professors Arthur Toga and Paul Thompson will receive two major research center awards to advance their exploration of the human brain.

Toga and Thompson each will establish a Center of Excellence under a National Institutes of Health initiative to mine discoveries from the vast and exponentially growing amounts of data created by imaging science, genetic sequencing and many other biomedical fields.

The awards total $12 million and $11 million for Toga and Thompson, respectively, over four years. NIH is funding several Centers of Excellence, including the two at USC, under its Big Data to Knowledge initiative.

Read more…

The Challenge of Modern Day Science

 :: Posted by American Biotechnologist on 10-14-2014

In recent years, there have been incredible advances in scientific tools available at our disposal. As a result, the rate of scientific discovery and the amount of data produced by molecular biologists and proteomic specialists has been astounding. Projects such as the Cancer Genome Atlas and the ENCODE Project have generated billions of data points and provide opportunities for original researchers and other investigators to use these results in their own work to advance our knowledge of biology and biomedicine. This data explosion has challenged scientists and funding agencies to come up with new models for dealing with this massive amount of data in the most efficient way possible.

In order to tackle this challenge, the National Institute of Health (NIH), has created a Big Data to Knowledge (BD2K) initiative to enable biomedical research as a digital research enterprise, to facilitate discovery and support new knowledge, and to maximize community engagement. So far this year, the NIH has invested $32 Million in BD2K with an additional $624 Million expected to be injected into the project by the year 2020.

According to NIH director Francis S. Collins:

Mammoth data sets are emerging at an accelerated pace in today’s biomedical research and these funds will help us overcome the obstacles to maximizing their utility. The potential of these data, when used effectively, is quite astounding.

Note Dr. Collins’ use of the words “when used effectively.” Effective use and analysis of massive data sets requires open collaboration between scientists across various disciplines and nationalities. Governments play a critical role in facilitating such collaboration and science-friendly collaborative policies are not always forthcoming. Furthermore, lack of data standards for many types of data, and the low adoption of data standards across the research community has also proven to be a significant obstacle to the efficient used of Big Data. In addition, many scientists also do not have the opportunity or facility to use big data and have not been trained in the computational skills to access and analyze large data sets.

Let’s hope that the recent grants awarded by the NIH strengthen the effective use of Big Data so that the time and effort spent in creating this data does not go to waste.

Talk Nerdy to Me

 :: Posted by American Biotechnologist on 10-13-2014