Home Blog Page 225
Source: © Robert Mizerek/Fotolia
Agilent Technologies agreed to acquire Cartagenia, which provides software and services for clinical genetics and molecular pathology labs. Cartagenia, which has offices in Leuven, Belgium, and Boston,  provides software solutions for variant assessment and reporting of clinical genomics data from next-generation sequencing and microarrays. Uniquely geared to routine clinical labs Cartagenia's solutions are FDA-registered as exempt Class I Medical Devices...
Source: iStock/ktsimage
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 in Genes & Development, offers scientists a potential...
Source: iStock/icefront
Placebo responders are different from placebo nonresponders, with implications for the design of clinical trials and the provision of clinical care. Placebo responders, for example, are thought to have brain signaling pathways that differ in subtle ways from nonresponders’ pathways. Ultimately, these pathways—especially the dopamine, opioid, endocannabinoid, and serotonin pathways—differ at the genetic level. The genes or gene patterns that...
Source: iStock/Aldo Murillo
Cell-free DNA from the maternal blood of a pregnant woman can throw clinicians a curve. Such DNA can indicate whether the genome of a developing fetus contains an abnormal number of chromosomes. Or it may simply indicate that the pregnant woman’s genome contains copy number variants (CNVs). If the latter possibility is not taken into account, a prenatal screen...
Polygenic risk scoring can help to identify women in higher risk categories who may benefit from interventions such as MRIs
Many gene variants, one genetic profile—that’s the approach Mayo Clinic scientists are using to personalize breast cancer prediction. The relevant gene variants here are common variants that contribute little to a person’s overall risk of developing breast cancer—at least when they are considered individually. In combination, however, these variants constitute a powerful risk factor, one that offers clinicians as...
Source: iStock/Evgeny Terentev
Many of the mutations that are found with tumor-only genetic sequencing are not actually tumor-related. Instead, they are just germline mutations, which are inherited changes that differ from person to person. They are common in normal tissues, and they are not necessarily related to cancer. Tumor-only genetic sequencing, then, may lead personalized cancer therapies astray—unless genomic information from a patient’s...
Advocacy groups have alleged that the FDA lacks statutory authority to regulate LDTs
The FDA defines a laboratory developed test (LDT) as a type of in vitro diagnostic device (IVD) intended for clinical use that is designed, manufactured, and used within a single laboratory. According to the FDA, enforcement discretion with respect to LDTs had been exercised because they were traditionally simple, small-scale testing laboratories, serving a limited local population and were...
AAA currently has 17 production and research and development facilities that manufacture both diagnostic and therapeutic molecular nuclear medicine products.
Advanced Accelerator Applications (AAA) is pioneering work in theragnostics—the blending of therapeutics and diagnostics capabilities into one drug for nuclear medicine applications. “Theragnostics is a very straightforward proposition for physicians dealing with nuclear medicine,” says Stefano Buono, AAA’s CEO and founder. This approach attaches radioisotopes to therapeutic molecules to deliver therapeutics and imaging in one injection. “The isotopes don’t change...
Researchers are being overwhelmed by sequencing data that is accumulating far faster than it be can analyzed. The resulting  information log jam has the scientists scrambling for solutions. [iStock/isak55]
Genomics has an obsession, and it’s called Big Data. However, unlike other obsessions, this one will probably not ruin anyone’s life—maybe only a few late nights or weekend plans for the researcher on a tight deadline. This preoccupation was born out of necessity. It began as an innate need to understand how our genetic makeup controls every facet of human...
Personalized mouse avatars have yet to demonstrate clear changes in the course of a person’s disease
Cancer researchers and drug developers continue to say that although gene expression profiling has led to significant advances in cancer diagnosis and prognosis, in vivo animal models that allow translation of therapeutic strategies to the clinic are sorely needed. Used in research since the 1980s, xenograft models (PDX models) or avatars in which patient tumor samples are grown in immunocompromised...
Scroll Up