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Archive - Jan 2017

January 10th

BRCA2 Gene Mutation Associated with Aggressive Prostate Cancer in Men with Family History; Early on, These Patients Have Molecular Profile Similar to That of Those with Advanced Cancer

A landmark study, led by Monash University's Biomedicine Discovery Institute (BDI) with the involvement of the Peter MacCallum Cancer Centre, both in Australia, has revealed the reason why men with a family history of prostate cancer who also carry the BRCA2 gene fault have a more aggressive form of prostate cancer. The study, published online on January 9, 2017 in Nature Communications, involving a consortium of Melbourne and Toronto researchers and clinicians, reports the molecular profile of the prostate cancers in men with the BRCA2 fault is similar to the profile seen in patients with advanced cancer: explaining why - right from diagnosis - BRCA2 patients have a poor outcome. The international team of scientists, led by Professor Gail Risbridger and Dr. Renea Taylor from the BDI and Dr. Rob Bristow from the Princess Margaret Cancer Centre in Toronto, Canada, in collaboration with clinicians from the Peter MacCallum Cancer Centre, kConFab, Austin Health, and the Olivia Newton-John Cancer Centre, worked to unlock the secrets of why prostate cancer in BRCA2 men behaves aggressively. The open-access article is titled “Germline BRCA2 Mutations Drive Prostate Cancers with Distinct Evolutionary Trajectories.” This study, part of a larger Victorian Cancer Agency-funded program of translational research, had previously reported that men who carried the BRCA2 gene fault were at a higher risk of having a more aggressive form of prostate cancer if a cell pathology known as IDCP (intraductal carcinoma of the prostate) was present; the IDCP cell pathology predicted these men were much more likely to have a poor clinical outcome.

“Dementia” Gene Associated with High Risk for Alzheimer's Disease and Cardiovascular Disease May Have Conferred an Evolutionary Advantage for Humans at High Risk for Parasitic Infections (Balanced Polymorphism)

New research published online on December 28, 2017 in The FASEB Journal, suggests that carriers of the apolipoprotein E4 allele, which is the single strongest genetic predictor of Alzheimer's disease and is associated with cognitive decline and cardiovascular disease, may have a reduced risk of cognitive decline associated with parasitic diseases. This protective effect may help explain why this "disease" gene has persisted over the millennia, as well as offering insights into preventing and treating the cognitive problems caused by human parasites. "While being an E4 carrier is the strongest risk factor to date of Alzheimer's dementia and cognitive decline in industrial populations, it is associated with greater cognitive performance in individuals facing a high parasite and pathogen load, suggesting advantages to the E4 allele under certain environmental conditions," said Benjamin C. Trumble, Ph.D., a researcher involved in the work at the School of Human Evolution and Social Change and the Center for Evolution and Medicine at Arizona State University in Tempe, Arizona. "The current mismatch between sedentary postindustrial lifestyles and active parasite-rich lifeways experienced throughout most of human history may be critical for understanding genetic risk for cognitive aging." Dr. Trumble and colleagues examined cognitive performance and parasite exposure data from a remote population of forager-horticulturalists in the Bolivian Amazon, called the Tsimane. The Tsimane experience high parasite loads, making them a suitable population for study for the role of the E4 allele in this circumstance. The researchers undertook a genetic analysis, measured immune markers of parasitic infection, and conducted cognitive tests on 372 Tsimane men and women aged 6 to 88 years.

Study Suggests Ancient Marine Origin of Retroviruses

Retroviruses - the family of viruses that includes HIV - are almost half a billion years old, according to new research by scientists at Oxford University. That's several hundred million years older than previously thought and suggests retroviruses have ancient marine origins, having been with their animal hosts through the evolutionary transition from sea to land. The findings, reported online on January 10,2017 in jNature Communications, will help us understand more about the continuing “arms race” between viruses and their hosts. The open-access article is titled “Marine Origin of Retroviruses in The Early Palaeozoic Era.” Study co-author author Dr. Aris Katzourakis, from Oxford University's Department of Zoology, said: “Very little has been known about the ancient origin of retroviruses, partly because of the absence of geological fossil records. Retroviruses are broadly distributed among vertebrates and can also transmit between hosts, leading to novel diseases such as HIV, and they have been shown to be capable of leaping between distantly related hosts such as birds and mammals. But until now, it was thought that retroviruses were relative newcomers - possibly as recent as 100 million years in age.” “Our new research shows that retroviruses are at least 450 million years old, if not older, and that they must have originated together with, if not before, their vertebrate hosts in the early Paleozoic era. Furthermore, they would have been present in our vertebrate ancestors prior to the colonization of land and have accompanied their hosts throughout this transition from sea to land, all the way up until the present day.” Retroviruses are a family of viruses that includes the HIV virus responsible for the AIDS pandemic. They can also cause cancers and immunodeficiencies in a range of animals.

January 9th

Cancer Genetics, Inc. Announces Multiple Agreements & Collaborations with Leading Biopharma Companies to Develop Liquid Biopsy Programs

Cancer Genetics, Inc. (Nasdaq:CGIX) (“CGI” or “The Company”), a leader in enabling precision medicine for oncology through molecular markers and diagnostics, announced on January 9, 2017 that it is actively involved in five programs and projects that are funded by leading biotech and pharmaceutical companies to develop and validate multi-marker liquid biopsy tests for a broad range of solid tumors. CGI expects that revenue from these projects will begin immediately and will help the Company accelerate the development of multi-marker companion and complementary liquid biopsy diagnostics. These five programs range across a variety of cancers including: breast, lung, renal, prostate, and gastro-intestinal. Healthcare analysts at J.P. Morgan predict that the liquid biopsy market could be worth as much as $20 billion by 2020, and replace traditional tissue-based biopsies in a wide range of cancers. Analysts also expect that liquid biopsies may open the market to new, cost-effective ways to routinely assess the effectiveness of cancer therapies and detect cancers earlier and with higher sensitivity. “There are a wide range of platforms and methods being used in liquid biopsy today, and CGI is uniquely positioned to rapidly create high-performance, clinically useful liquid biopsy tests for our biotech and pharmaceutical partners,” commented Mr. Panna Sharma, CEO & President of Cancer Genetics.

Mayo Researchers ID Treatment That Might Prevent Metastasis of Triple-Negative Breast Cancer

Breast cancer metastasis may be prevented through the new use of a class of drugs already approved by the U.S. Food and Drug Administration. Mayo Clinic researchers have identified that a key drug target, CDK4/6, regulates a cancer metastasis protein, SNAIL, and drugs that inhibit CDK 4/6 could prevent the spread of triple-negative breast cancer. This is the finding of a paper published online on January 9, 2017 in Nature Communications. The open-access article is titled “CDK4/6-Dependent Activation of DUB3 Regulates Cancer Metastasis through SNAIL1.” CDK4/6 inhibitors are approved for treating estrogen-positive breast cancer, but not triple-negative breast cancer. "Metastasis is a hallmark of cancer and a leading cause of cancer death," says the study's senior author, Zhenkun Lou, Ph.D., of Mayo Clinic. "Despite great progress in cancer therapy, the prevention of cancer metastasis is still an unfulfilled challenge." For this study, Dr. Lou and his colleagues focused on triple-negative breast cancer, which is difficult to treat, because it does not exhibit receptors for estrogen, progesterone or the HER-2/neu gene, which are targets for many current breast cancer treatments. "Prior published data suggested that CDK 4/6 inhibitors were not effective in reducing the growth rates of estrogen-receptor-negative breast cancer," says Dr. Lou.

Study Supports Link Between Enterovirus Infection and Autoimmunity That Leads to Type 1 Diabetes

New research published in Diabetologia (the journal of the European Association for the Study of Diabetes [EASD]) shows that children with type 1 diabetes (T1D) have a higher incidence of enterovirus infections prior to experiencing the autoimmune processes which lead to their T1D. The study is by Professor Heikki Hyöty and Dr. Hanna Honkanen, University of Tampere, Finland, and colleagues. Type 1 diabetes is caused by an immune-mediated process that damages insulin-producing beta cells in the pancreas. The subclinical phase of the disease can be identified by detecting autoantibodies. Enteroviruses have been linked to type 1 diabetes in studies showing an increased frequency of these viruses in the blood and pancreas of diabetic and autoantibody-positive individuals and in studies showing an increased frequency of enterovirus antibodies in people with T1D. However, this association has not been seen in all studies. In this new study, the authors analyzed whether the presence of enteroviruses in stools was associated with the appearance of islet autoimmunity in the "Type 1 Diabetes Prediction and Prevention Study" in Finland. The current study is the largest study to date in which enteroviruses have been analyzed in stool samples collected over time from children who developed signs of a beta cell-damaging process. A total of 1673 stool samples from 129 case children who turned positive for multiple islet autoantibodies and 3108 stool samples from 282 matched control children were screened for the presence of enterovirus ribonucleic acid (RNA - the genetic material found in some viruses). Altogether, 108 infections were diagnosed in the 129 case children and 169 infections in the 282 control children during the whole follow-up (mean 0.8 vs 0.6 infections per child).

New Target Identified for Treatment of Spinal Muscular Atrophy (SMA); Medicine Aimed at This Target May Ultimately Be Used As Booster for Recently FDA-Approved Drug for SMA

Johns Hopkins researchers, along with academic and drug industry investigators, say they have identified a new biological target for treating spinal muscular atrophy (SMA). The scientists report they have evidence that an experimental medicine aimed at this target works as a "booster" in conjunction with a drug called nusinersen, which was recently approved by the FDA, to improve symptoms of the disorder in mice. In a report on the work, published in the January 4, 2017 issue of Neuron, the researchers say the combination therapy improved survival time, body weight and motor movements in mice with spinal muscular atrophy, a relatively rare inherited disorder characterized by the loss of motor neurons, or nerve cells that control movement. The Neuron article is titled “The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy.” Nusinersen, approved by the U.S. Food and Drug Administration in December 2016, became the first drug approved to treat spinal muscular atrophy, with several other experimental drugs still in clinical trials. The Johns Hopkins researchers and their colleagues say the "boosted" nusinersen therapy, if confirmed by further studies, has the potential to significantly improve the lives of people with spinal muscular atrophy, some with forms of the disease with only weeks or months to live, and others who are unable to sit, stand or walk. The researchers caution that the booster therapy used in their new study will not be available on the market or even for use in human trials anytime soon; it must await years of animal testing for safety and effectiveness first. But the results of their study, they add, offer at least one path to extending the usefulness of nusinersen.

Massive Genetic Study of Humpback Whales to Inform Conservation Assessments; Study Confirms Need to Protect Unique Humpback Whales in Arabian Sea

Scientists have published one of the largest genetic studies ever conducted on the humpback whale (Megaptera novaeangliae) for the purpose of clarifying management decisions in the Southern Hemisphere and supporting calls to protect unique and threatened populations, according to WCS (Wildlife Conservation Society), the American Museum of Natural History, Columbia University, and other organizations. Using data generated from more than 3,000 skin samples from individual whales ranging from the South Atlantic to the Indian Oceans, the research team has uncovered previously unknown degrees of relatedness between different whale populations. The study will also help inform ongoing conservation reassessments of humpback whale populations, and reaffirms the highly distinct nature of a small, non-migratory population of humpback whales living in the Arabian Sea in need on continued protection. The study titled "Multiple Processes Drive Genetic Structure of Humpback Whale (Megaptera novaeangliae) Populations Across Spatial Scales" was published online on January 8, 2016 in Molecular Ecology. Field research on marine mammals is one of the most challenging of biological studies, primarily because scientists are often unable to follow ocean-going species such as whales across their full range; the humpback whale, in particular, undertakes some of the longest migratory movements of any mammal. While techniques such as remote sensing devices placed on individual whales, photo-recognition of individuals, and other methods can help answer some questions of where whale species travel, molecular technologies can reveal secrets at a broader level, sometimes representative of entire populations.

The Science of Babies’ First Sight

When a newborn opens her eyes, she does not see well at all. You, the parent, are a blurry shape of light and dark. Soon, though, her vision comes online. Your baby will recognize you, and you can see it in her eyes. Then baby looks beyond you and that flash of recognition fades. She can't quite make out what's out the window. It's another blurry world of shapes and light. But within a few months, she can see the trees outside. Her entire world is coming into focus. University of North Carolina (UNC) School of Medicine scientists have found more clues about what happens in the brains of baby mammals as they try to make visual sense of the world. The study in mice, published online on January 9, 2016 in the journal Nature Neuroscience, is part of an ongoing project in the lab of Spencer Smith, Ph.D., Assistant Professor of Cell Biology and Physiology, to map the functions of the brain areas that play crucial roles in vision. Proper function of these brain areas is likely critical for vision restoration. "There's this remarkable biological operation that plays out during development," Dr. Smith said. "Early on, there are genetic programs and chemical pathways that position cells in the brain and help wire up a 'rough draft' of the circuitry. Later, after birth, this circuitry is actively sculpted by visual experience: simply looking around our world helps developing brains wire up the most sophisticated visual processing circuitry the world has ever known. Even the best supercomputers and our latest algorithms still can't compete with the visual processing abilities of humans and animals.

Spider Silk Is Produced Artificially for First Time

Being able to produce artificial spider silk has long been a dream of many scientists, but all attempts have, until now, involved harsh chemicals and have resulted in fibers of limited use. Now, a team of researchers from the Swedish University of Agricultural Sciences and Karolinska Institutet has, step by step, developed a method that works. Today they report that they can produce kilometer-long threads that for the first time resemble real spider silk. The results were published in the journal Nature Chemical Biology. Spider silk is an attractive material–-it is well tolerated when implanted in tissues, it is light-weight but stronger than steel, and it is also biodegradable. However, spiders are difficult to keep in captivity and they spin small amounts of silk. Therefore, any large-scale production must involve the use of artificial silk proteins and spinning processes. A biomimetic spinning process (that mimics nature) is probably the best way to manufacture fibers that resemble real spider silk. Until now, this has not been possible because of difficulties to obtain water soluble spider silk proteins from bacteria and other production systems, and therefore strong solvents has been used in previously described spinning processes. Spider silk is made of proteins that are stored as an aqueous solution in the silk glands, before being spun into a fiber. Researcher Dr. Anna Rising (shown at left with Dr. Johansson) and her colleagues Dr. Jan Johansson and Dr.