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Archive - May 28, 2017

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Open-Access Genetic Screening for Hereditary Breast Cancer Is Feasible and Effective

Ashkenazi Jewish women are known to have a predisposition to the inherited breast cancers BRCA1 and BRCA2, but currently genetic testing in this group is limited to women affected by breast and ovarian cancers and those who are unaffected, but have a family history of the disease. Ms. Sari Lieberman, a genetic counsellor at the Shaare Zedek Medical Centre, Jerusalem, Israel, told the annual conference of the European Society of Human Genetics (ESHG) on Sunday, May 28, in Copenhagen, Denmark, that offering open-access BRCA testing to Ashkenazi women unaffected by cancer, regardless of their family history, enables the identification of carriers who would otherwise have been missed. Carrying one of the mutations for the BRCA genes means that women affected have a 50-80% risk of developing breast cancer and a 20-50% risk for ovarian cancer. "We knew that half of these carriers have no family history of cancer, and therefore would not have been identified had the test been offered on the current personal and family history criteria," she says. "As a genetic counsellor, it is frustrating and saddening to see the results of this policy, where patients are often only identified as BRCA carriers once they have been diagnosed with cancer." The researchers streamlined the pre-test process so that traditional genetic counseling, which can be time-consuming and difficult, was excluded. Instead they provided written information about the BRCA genes, the genetic test, and about the implications of being a carrier."Current strategies for testing focus on women who are 50 and older, which is not the optimal age for effective prevention. In order to address this, we would like to continue this study and look for other approaches that could include younger women," says Ms. Lieberman.

Trump’s Proposed Budget Would Cripple the NIH and FDA

This article by Ellen V. Sigel, Ph.D., was originally published in STAT (https://www.statnews.com/) on May 24, 2017. Ellen V. Sigal is founder and chair of Friends of Cancer Research, (https://www.focr.org/ ) an advocacy organization based in Washington, D.C. BioQuick News ran into Dr. Sigel at the recent Precision Medicine World Conference (PMWC 2017) at Duke May 24-25, and received permission to reprint this important opinion piece: Since taking office, President Trump has done right by the scientific and patient communities by placing strong leaders at the Food and Drug Administration and the National Institutes of Health. After a four-month vacancy in the FDA’s top job, Dr. Scott Gottlieb now runs this essential agency, and Dr. Francis Collins is continuing his leadership of the NIH. With these experienced and thoughtful leaders in place, there is reason to be optimistic that the progress promised by the passage of the 21st Century Cures Act in December 2016 will be fully realized. But the president’s newly released budget seems to move in the opposite direction. It would hamstring Collins and Gottlieb in their efforts to protect and improve the lives of Americans and represents a major impediment to bipartisan opportunities to build on the momentum and execute the programs created through Cures Act and the current reauthorization of the Prescription Drug User Fee Act. At best, the proposed budget suggests that the White House doesn’t understand how the NIH and the FDA function. At worst, it suggests a disregard for the millions of patients who are desperate for the scientific innovations, lifesaving therapies, and safeguards that emerge from these agencies.

Temperature Treatment of Metal-Organic Frameworks (MOFs) Extends Drug Delivery Release

Utilizing metal−organic frameworks (MOFs) as a biological carrier can lower the amount of the active pharmaceutical ingredient (API) required in cancer treatments to provide a more efficacious therapy. In new work, scientists at the University of Cambridge (UK), Northwestern University (USA), and King Abdulaziz University (Saudi Arabia), report development of a temperature treatment process for delaying the release of a model drug from the pores of NU-1000 and NU-901, while taking care to utilize these MOFs’ large pore volume and size to achieve exceptional model drug loading percentages over 35 wt %. The team showed that encapsulation of an anticancer therapeutic, alphacyano-4-hydroxycinnamic acid (α-CHC), and subsequent temperature treatment produced loadings of up to 81 wt % and demonstrated efficacy at killing cells beyond the burst release effect. The scientists reported that video-rate super-resolution microscopy revealed movement of MOF particles when located outside of the cell boundary, and their subsequent immobilization when taken up by the cell. Through the use of optical sectioning structured illumination microscopy (SIM), they captured high-resolution 3D images showing MOF uptake by HeLa cells over a 24-hour period. The article was published online on May 16, 2017 in the Journal of the American Chemical Society. The paper is titled “Temperature Treatment of Highly Porous Zirconium-Containing Metal−Organic Frameworks Extends Drug Delivery Release.” The authors “believe this is the first study of MOFs to employ super-resolution microscopy, and the first to utilize optical sectioning SIM to observe any nanocarrier in 3D.