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Published on November 5, 2015
A collaborative team of researchers from the Translational Genomics Research Institute (TGen), Mayo Clinic, and Cancer Research UK Cambridge Institute (CRUK) have successfully shown that circulating tumor DNA (ctDNA), shed into the blood stream from cancer cells, can be used to track the progression of cancers and their response to…
Published on November 2, 2015
The age of fast, accurate, and noninvasive cancer screening is rapidly becoming reality. The power of next-generation sequencing has allowed molecular diagnostic techniques to sample small amounts of blood for the genetic hallmarks of tumorigenesis. These liquid biopsy procedures, as they have been dubbed, typically search for circulating tumor DNA…
Published on October 15, 2015
Researchers from the Dana-Farber Cancer Institute and the Broad Institute of MIT and Harvard have harnessed the power of next-generation sequencing to analyze a large collection of leukemia tissue samples. Using whole exome sequencing (WES), the investigators screened genetic material from more than 500 samples of chronic lymphocytic leukemia (CLL)…
Published on August 26, 2015
While the incidence of acute myeloid leukemia (AML) is still relatively rare, accounting for approximately 1% of cancer deaths in the U.S., rates of occurrence are expected to rise as the largest portion of the population continues to age. Moreover, there remains a significant level of disparity in clinical outcomes,…
Published on August 18, 2015
Biogen, the ALS Association, and Columbia University Medical Center (CUMC) agreed to collaborate to better understand the differences and commonalities in the ALS disease process and how genes influence the clinical features of the disease. The project, “Genomic Translation for ALS Clinical care” (GTAC), will involve a combination of next-generation…
Published on July 24, 2015
Within the clinical arena, accurate and sensitive diagnostics are paramount to developing effective treatment regimens for patients. Physicians often require quick and reliable ways to discern if patients are afflicted with a specific ailment. Although many such detection methods currently exist, they often require a large investment of time, work,…
Published on June 25, 2015
Researchers at Johns Hopkins led a proof-of-principle study that successfully identified tumor DNA shed into the blood and saliva of 93 patients with head and neck cancer. Their report (“Detection of somatic mutations and HPV in the saliva and plasma of patients with head and neck squamous cell carcinoma”) is…
Published on May 27, 2015
Halozyme Therapeutics said today it will co-develop a companion diagnostic for its cancer drug candidate PEGPH20 with Ventana Medical Systems, a member of the Roche Group. The value of the collaboration was not disclosed. Ventana will ultimately commercialize the in vitro diagnostic, an assay designed to identify high levels of…
Published on May 26, 2015
Averages shout, and individuals whisper. That, in a nutshell, is the frustration of single-cell transcriptomics. Although innumerable cell types have unique gene-expression profiles, they are hard to discern. Great, thundering herds of cells typically give up their RNA to be sequenced all in one batch. It is possible to effectively…
Published on May 4, 2015
Scientists at the University of North Carolina School of Medicine and UNC Lineberger Comprehensive Cancer Center say they have developed a technique for finding where DNA repair happens throughout all of human DNA. Their study (“Genome-wide analysis of human global and transcription-coupled excision repair of UV damage at single-nucleotide resolution”),…
Published on April 17, 2015
Scientists at the Ohio State University Comprehensive Cancer Center have developed a new method for measuring genetic variability within a tumor that might one day help doctors identify patients with aggressive cancers that are more likely to resist therapy. Researchers used a new scoring technique they developed called MATH (mutant-allele…
Published on April 1, 2015
Conventional wisdom has steered scientists for many years toward the assumption that disease-triggering genetic mutations were inherited by offspring from existing mutations within parental DNA, and that these mutations reside within all somatic cells, eventually emerging due to some perturbation of the cellular environment. However, over the past several years…
Published on March 30, 2015
The holy grail of clinical diagnostics would be a completely noninvasive technique that can identify disease with exceptional accuracy. Unfortunately, science has yet to achieve this almost essential goal. However, new research from Johns Hopkins scientists may provide the crucial data required to take a big leap toward complete noninvasive…
Published on February 12, 2015
Since the first in vitro fertilization (IVF) birth in 1978 more than 5 million babies have been born using this method. In order to alleviate added stress for couples already experiencing difficulties to conceive, fertility scientists utilize pre-implantation genetic diagnosis (PGD) techniques to detect large chromosomal abnormalities or gene mutations…
Published on November 19, 2014
Genomic technologies enabling relatively simple, rapid, and costeffective high-throughput testing of RNA-based multiplexed signatures in blood samples would greatly facilitate wide-scale adoption of molecular diagnostic tests in clinical medicine. Tests like CardioDx’ Corus CAD and CAREDx’ Allomap represent the first generation of products designed to improve diagnosis, predict therapeutic response, monitor drug responses in patients, and determine disease prognosis from a simple blood…