Gene Editing Could Help Tackle Cancer And Inherited Diseases

Gene editing techniques developed in the last five years could help in the battle against cancer and inherited diseases, a University of Exeter scientist says.

"There is always a risk with this kind of technology and fears about designer babies and we have started having discussions about that so we can understand the consequences and long-term risks," said Dr Westra, of the Environment and Sustainability Institute on the University of Exeter's Penryn Campus in Cornwall. "I think in the coming decades gene editing will become super important, and I think we will see it being used to cure some inherited diseases, to cure cancers, to restore sight to people by transplanting genes. I think it will definitely have massive importance."

On Tuesday, two highly influential academic bodies in the US shook up the scientific world with a report that, for the first time, acknowledged the medical potential of editing inherited genes. The National Academy of Sciences and National Academy of Medicine ruled that gene editing of the human "germline"—eggs, sperm and embryos—should not be seen as a red line in medical research.

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Source: medicalxpress

Impact of Flow Cytometry on Blood Disorders

Among its many clinical uses, fluorescence-based flow cytometry aids laboratories in the diagnosis of blood cancers and other disorders. The Division of Hematopathology within the Department of Laboratory Medicine and Pathology at Mayo Clinic in Rochester, Minnesota, performs both basic and specialized hematology testing via six specialty labs. Its Cell Kinetics Laboratory, in particular, uses flow cytometry as a primary technology to diagnose leukemias and lymphomas from blood, bone marrow, fluid, and tissue specimens. Clinical diagnosis of most hematological diseases, especially malignant forms, requires clinicopathologic correlation, and flow cytometry can play an important role in pathological diagnosis. The processes employed by flow cytometry help distinguish abnormal from normal conditions and provide an expedient method of establishing clonality and aberrant antigen expression on abnormal populations.

The Cell Kinetics Lab employs 28 staff and utilizes 9 flow cytometers to manage its volume demand. The lab analyzes high volumes of mostly malignant samples sent from all over the world in addition to those from patients at Mayo Clinic. All specimens must be preprocessed, and the lab purchases monoclonal antibodies that attach to one type of cell antigen (ie, cluster of differentiation [CD]), multiples of which can be found on each cell surface. These acquired antibodies are pre-conjugated with one or more fluorescent markers, and there are many color options for each CD marker, adding flexibility to panel makeup. Monoclonal antibodies can be expensive but can have a substantial shelf life of 6 to 18 months. The Cell Kinetics Lab stocks anywhere from 70 to 80 different antibodies in refrigeration for use in flow cytometry processes.

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Source: MedLabMag

Watch Video: Flow Cytometry Animation

The Genetic Components of Rare Diseases

Techniques for determining which genes or genetic variants are truly detrimental

Last fall, the conclusion of the 1000 Genomes Project revealed 88 million variants in the human genome. What most of them mean for human health is unclear. Of the known associations between a genetic variant and disease, many are still tenuous at best. How can scientists determine which genes or genetic variants are truly detrimental?

Patients with rare diseases are often caught in the crosshairs of this uncertainty. By the time they have their genome, or portions of it, sequenced, they’ve endured countless physician visits and tests. Sequencing provides some hope for an answer, but the process of uncovering causal variants on which to build a treatment plan is still one of painstaking detective work with many false leads. Even variants that are known to be harmful show no effects in some individuals who harbor them, says Adrian Liston, a translational immunologist at the University of Leuven in Belgium who works on disease gene discovery.

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CROSS COMPARE: Each model organism has its own vocabulary that researchers use to describe
an array of characteristics. The Monarch Initiative has mapped phenotype descriptions used in model
systems to human clinical features. The Initiative’s Exomiser software employs this mapping strategy
to help users better understand human genetic disorders by widening the pool of gene-function
associations. ROBINSON ET AL., GENOME RES, 24:340–48, 2014.

Source: the-scientist

Software for Image Analysis

Profiles of five programs for quantifying data from Westerns, dot blots, gels, and colony cultures

When you’re looking at bands on a Western blot, it’s often obvious which lane has a lot of protein or a little. But it’s not always easy to tell with the naked eye precisely how two bands compare. Plus, looks can deceive. For example, if a lane widened or a band developed a “smile” as the gel ran, a protein-heavy band might look faint.

That’s where imaging software can help, by putting numbers on the density of a band. Just draw a box around your band and the program will tell you the pixel density. Some programs do much more, such as quantifying the number of colonies on a petri dish or the intensity of fluorescent signals in a 96-well plate. “It’s just an improvement on the eyeball,” says Jeff Silk, president of Silk Scientific, in Orem, Utah, which sells gel analysis software.

Researchers have plenty of options for software to bolster their own vision, ranging from freebies that work with any type of image to expensive programs or ones that are specific to their imaging machinery. Unlike Photoshop or other general image-editing software, these dedicated programs can often automatically detect where each lane starts and ends or sum up multiple bands. They can also winnow away background signal, which arises from a variety of causes such as nonspecific binding of antibodies to the entire blot or overexposure when imaging.

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Source: the-scientist