PRODUCT NEWS DIGITAL PIPETTE
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AUTO IMMUNOANALYZER
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Karl Hecht
Randox Laboratories
Siemens Healthineers
The Assipettor allows for volume fixing by locking lever, and can be adjusted and fixed using one hand. It is maintenance-free without the need for readjustment and allows for easy replacement of capillaries and tips.
The Evidence for rapid multiplex testing combines the latest technological advances along with an innovative system design. It has a throughput of up to 3,960 tests per hour, a capacity of 180 samples and can screen up to 44 analytes per biochip.
The CLINITEK Novus combines urine chemistry technology and cassette test format to ensure maximum productivity and standardized testing with CLINITEK analyzers. It offers a full spectrum of tests and throughput of up to 240 samples/hr.
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New Genetic Risk Factors Identified for Peanut Allergy eanut allergy develops in early life and is rarely outgrown. Roughly 1% of Canadian adults and between 2% and 3% of Canadian children are affected, and the symptoms can be severe and even life threatening. A new gene associated with peanut allergy has been revealed, offering further evidence that genes play a role in the development of food allergies and opening the door to future studies, improved diagnostics and new treatment options. An international team of scientists collaborating with those at the University of British Columbia (Vancouver, BC, Canada; www. ubc.ca) scanned more than 7.5 million genetic locations in the DNA of 850 people with peanut allergy and nearly 1,000 people without it, through a genome-wide association study (GWAS), to search for markers that might be linked to food allergy. They recruited the peanut allergy participants from the Canadian Peanut Allergy Registry. The team also
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conducted a fresh analysis of results pooled from six other genetic studies of populations in North America, Australia, Germany, and the Netherlands. Genotyping of 1,974 individuals (987 cases, 987 controls) was conducted on the Illumina Omni 2.5M+Exome 8v1.1 chip (Illumina, San Diego, CA, USA; www.illumina. com). The scientists reported that their study is the first to associate the EMSY, BRCA2 Interacting Transcriptional Repressor (EMSY) locus with food allergy, and these findings suggest that the gene plays an important role in the development of not just food allergy but also general allergic predisposition. The gene, called c11orf30/EMSY (EMSY), is already known to play a role in other allergy-related conditions, such as eczema, asthma, and allergic rhinitis. The team also found evidence that five other genetic locations might be involved. Denise Daley, PhD, an associate professor and senior author of the study, said, “Food allergy is the result of both genetic and environ-
mental factors, but there are surprisingly few data regarding the genetic basis of this condition. The discovery of this genetic link gives us a fuller picture of the causes of food allergies, and this could eventually help doctors identify children at risk.” The study was published on November 10, 2017, in the Journal of Allergy and Clinical Immunology. Image: Whole genome genotyping arrays are an important tool for discovering variants that contribute to human disease (Photo courtesy of Megan Smolenyak, MBA).
Whole Genome Sequencing Identifies New Autism Signature urrent genetic tests for autism scan broad portions of the genome for DNA insertions or deletions that have previously been linked to autism. Other tests look for changes in the DNA building blocks of certain genes, but these tests flag only about 10% to 30% of cases. Autism has genetic roots, but most cases can not be explained by current genetic tests.An analysis of the complete genomes of 2,064 people reveals that multiple genetic variations could contribute to autism. The work suggests that scanning whole genomes may one day be useful for clinical diagnostics. Scientists at the Howard Hughes Medical Institute (Seattle, WA, USA; www.hhmi.org) and their colleagues sequenced the genomes of 516 autistic children with no family history of autism, and no genetic anomalies detected by current tests. The team also sequenced the genomes of the children’s parents and an unaffected sibling equaling 2,064 people in total. They analyzed each family’s data, looking for ge-
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netic variations that occurred only in children with autism. Genomes were sequenced at the New York Genome Center (NYGC) using 1 g of DNA, an Illumina polymerase chain reaction (PCR)-free library protocol, and sequencing on the Illumina X Ten platform (Illumina, San Diego, CA, USA; www.illumina.com). The team used the Quick Change Lightning Multi Site-Directed Mutagenesis Kit (Agilent Technologies, Santa Clara, CA, USA; www.agilent.com). The investigators identified genetic changes that disrupted gene function and led to altered protein production, and genetic deletions too small to see with current tests. They also found changes in areas of the genome that do not contain genes, but are responsible for turning genes on. They compared the number of variations in autistic children’s genomes with that of their unaffected siblings and found that children with autism were significantly more likely to have three or more different kinds of genetic variations. The study was published on September 28, 2017, in the journal Cell. LabMedica International April/2018
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