When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in clinical and research reports.
Now a study by researchers at Brigham and Women’s Hospital (BWH) proposes a new classification system that may standardize how structural chromosomal rearrangements are described. Known as Next-Gen Cytogenetic Nomenclature, it is a major contribution to the classification system to potentially revolutionize how cytogeneticists worldwide translate and communicate chromosomal abnormalities. The study will be published online April 17, 2014 in The American Journal of Human Genetics.
“As scientists we are moving the field of cytogenetics forward in the clinical space,” said Cynthia Morton, PhD, BWH director of Cytogenetics, senior study author. “We will be able to define chromosomal abnormalities and report them in a way that is integral to molecular methods entering clinical practice.”
According to the researchers, advances in next-generation sequencing methods and results from BWH’s Developmental Genome Anatomy Project (DGAP) revealed an assortment of genes disrupted and dysregulated in human development in over 100 cases. Given the wide variety of chromosomal abnormalities, the researchers recognized that more accurate and full descriptions of structural chromosomal rearrangements were needed.
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Transforming Cancer Research: Droplet Digital™ PCR Plays Integral Role at Fred Hutchinson Cancer Research Center:: Posted by American Biotechnologist on 04-15-2014
It’s no surprise that Droplet Digital PCR (ddPCR) has found its place in the world of cancer research. Bio-Rad’s ddPCR™ technology has a remarkable ability to quantify miniscule amounts of target DNA and RNA, and thus can contribute to early detection of rare tumorigenic mutations against a high background of “normal” DNA as well as to other applications, including identifying cancer subtypes, optimizing drug treatment plans, and studying tumor evolution. At the Fred Hutchinson Cancer Research Center in Seattle, scientists are producing some of the most important advances in prevention, early detection and treatment of cancer and other diseases. They are studying the disease process from every angle seeking to uncover factors that influence a person’s likelihood of getting cancer. Understanding of such factors, of course, can help reduce risk and save lives. To learn more about how Droplet Digital PCR is being wielded to fight against cancer, we caught up with two researchers – Muneesh Tewari and Jason Bielas— who are using Bio-Rad’s QX100™ Droplet Digital™ PCR system in their quest to break through the current limits of nucleic acid detection and quantification.