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February 2nd, 2020

Laura van’t Veer, Inventor of Agendia’s MammaPrint Breast Cancer Assay, Honored with Luminary Award at Precision Medicine World Conference (PMWC 2020)

Laura van ‘t Veer (photo here, also see more photos at end), PhD, Co-Founder of Agendia Inc. and developer of MammaPrint, the 70-gene risk of recurrence assay for breast cancer patients, was recognized by the Precision Medicine World Conference (PMWC) with the PMWC Luminary Award on January 21, 2020. This award recognizes individuals who have made significant contributions to accelerate personalized medicine within the clinical setting. As a Professor of Laboratory Medicine and Director of Applied Genomics at the University California San Francisco (UCSF) Helen Diller Family Comprehensive Cancer Center, Dr. van ‘t Veer is committed to translational medicine that aims to leverage the genomic makeup of patient tumors and improve their clinical outcomes. Dr. van ‘t Veer has authored more than 280 peer-reviewed scientific articles and is a co-inventor on 6 patents. In 2007, she received the European Society of Medical Oncology (ESMO) life-time achievement award for translational research in breast cancer, in 2014 the European Union Women Innovator Award, and in 2015 the EPO European Inventor award. In 2019, she was recognized by 24/7 Wall Street as one of “32 Amazing Women Inventors.” Currently, Dr. van ‘t Veer serves as the Biomarker Committee Chair for the Quantum Leap Healthcare Collaborative (QLHC)-sponsored I-SPY 2 adaptive clinical trial. By using genomic information obtained from participating patients, this trial seeks to elucidate how different tumors will respond to novel drug regimens, thus improving patient outcomes. At the PMWC Awards Reception, Dr. van’t Veer was introduced by Agendia CEO Mark Straley. Tal Bahar Co-Founder and President, PMWC commented, “We are delighted to have Dr.

February 2nd

Recurrent Mutations in Splicing Factor (SRSF2) Gene Cause Excessive Nonsense-Mediated Decay (NMD) and May Cause Many Different Blood Cancers

A genetic mutation that disrupts how DNA sends messages to the rest of a cell has been linked to a large number of blood cancers. Thanks to a collaboration between biologists at Cold Spring Harbor Laboratory (CSHL) and an oncologist at Memorial Sloan Kettering Cancer Center (MSKCC), we now know how the mutation triggers a chain of biological events that lead to most leukemias. The deadly chain of events begins with RNA splicing, a process that converts messages from DNA into instructions for making proteins in a cell. Errors in RNA splicing can result in poorly formed proteins that are unable to do their job. The CSHL-MSKCC team found that in blood cancers, a process associated with splicing called nonsense-mediated mRNA decay (NMD) is excessively active. After splicing converts DNA messages, the NMD process normally serves as "quality control," destroying messages that contain mistakes before a broken protein is made. The laboratory of Adrian Kraimer (photo), PhD, at CSHL determined that when the gene called SRSF2 is mutated, NMD destroys many more messages, including some that have not been likely targets of NMD before. Messages that are important for healthy blood cell production are one of these new targets. The result of excessively active NMD is less healthy blood cells and more sickly or immature cells--a hallmark of blood cancer. "RNA splicing factor mutations are seen in virtually all forms of leukemia, both chronic as well as acute myeloid leukemias and also even chronic lymphocytic leukemia," said Omar Abdel-Wahab, MD, at MSKCC. "I'm a hematological oncologist--I think a lot about blood cancer--so this caught my attention right away." Scientists have seen other cancers manipulate NMD into protecting solid tumors.

February 1st

Penn Doctor Chases Cure for His Own Rare Disease (Castleman Disease); One in Ten Have a Rare Diseae (Over 7,000 Rare Diseases), But for 95% of These Diseases, There Is Not a Single FDA-Approved Drug

In the introduction to his memoir “Chasing My Cure: A Doctor’s Race to Turn Hope Into Action (, Dr. David Fajgenbaum discussed how he learned that “hope cannot be a passive concept.” “It’s a choice and a force,” he wrote. “Hoping for something takes more than casting out a wish to the universe and waiting for it to occur. Hope should inspire action. And when it does inspire action in medicine and science, that hope can become a reality, beyond your wildest dreams.” Hope is something Dr. Fajgenbaum, 34, an Assistant Professor of Medicine at The Perelman School Of Medicine at the University of Pennsylvania, knows Intimately. He’s been in hospital rooms as a patient and a doctor — seeing both sides of what it’s like to diagnose and be diagnosed with a deadly disease. He knows what it’s like to experience radical ups and downs in his own health and see others go through the same thing. His life changed in 2010 while he was a third-year medical student at the same university where he now works. He began noticing strange, sudden shifts in his health — from night sweats to fatigue. Within several weeks, his organs were failing, and in November of that year, he was read his last rites. What was wrong? Dr. Fajgenbaum received a very rare diagnosis: Castleman disease (, an immune disorder that results in an overgrowth of cells in the lymph nodes. While not a form of cancer, the condition is often initially confused with a cancer diagnosis. The lymph nodes generally tied to the condition are those found in the neck, underarm, groin, and collarbone. For Dr.

Researchers Identify Possible New Combination Treatment for Advanced Melanoma

A study by researchers at the UCLA Jonsson Comprehensive Cancer Center and coleagues suggests that using an immunotherapy drug called NKTR-214, also known as bempegaldesleukin, in combination with an infusion of anti-tumor immune cells (T cells), may produce a stronger immune response that could help fight advanced melanoma. When tested in mice with melanoma tumors that were unlikely to stimulate an immune response, the approach increased the number of anti-tumor immune cells, and those immune cells lived longer and functioned better than the standard therapy, empowering the cells to destroy the tumor. Adoptive cell therapy is a type of immunotherapy that has had promising results for treating people with advanced cancers. The approach involves extracting and harvesting immune cells from a patient and engineering them in the laboratory to attack specific antigens on the surface of tumors. One challenge is that it requires giving patients interleukin 2, a protein signaling molecule in the immune system, to promote the development and expansion of the infused immune cells. But interleukin 2 can also activate cells to suppress the immune system, and because it is highly toxic, it can have serious adverse side effects. Researchers have been seeking ways to produce large number of immune cells without exposing patients to those negative side effects — including by combining adoptive cell therapy with other treatments. In this study, researchers used mice to test NKTR-214 in combination with adoptive cell therapy. Using bioluminescence imaging, the researchers tracked the movement of T cells in the mice that received the combination therapy. The team observed an expansion of T cells in the spleen, the organ that helps accelerate the activation and expansion of T cells throughout the body.

In Study of IL-1Beta, UCLA Researchers Find Chronic Inflammation Contributes to Cancer Metastasis

A recent study by UCLA researchers has revealed a detailed epigenetic mechanism for how interleukin-1-beta, a common cytokine that helps fight infections during inflammation, plays a critical role in cancer metastasis. The researchers found that chronic exposure to interleukin-1beta can promote lung cancer metastasis through inheritable changes of gene expression without altering DNA sequence. Because of these gene alterations, cancer cells can memorize this phenotype -- known as epithelial-to-mesenchymal transition, an important step during cancer metastasis -- to successfully reach distance organs and subsequently colonize. Lung cancer remains the most lethal cancer type in the United States. The vast majority of people with lung cancer die from tumor reoccurrence or metastasis. Therefore, one of the biggest challenges in treating cancer is stopping it from metastasizing to other parts of the body. Scientists have known that chronic inflammation facilities tumor progression, but how this process leads to the spread of cancer is not well elucidated. Previous research has showed interleukin-1beta is correlated with poor survival in people with non-small cell lung cancer (NSCLC) and exposure of this cytokine prompts the expression of genes that are often involved in invasion during metastasis in multiple cancers. The UCLA team enhanced the understanding of the process by studying the role of chronic interleukin-1beta exposure in the epithelial-to-mesenchymal transition. The researchers investigated the role of interleukin-1beta in lung cancer metastasis by looking at in vitro models of lung cancer to help provide insight into the cells' behaviors. They specifically examined whether interleukin-1beta induced epithelial-to-mesenchymal transition in lung cancer cells.

January 31st

Complement System Gene (C4), Previously Associated with Schizophrenia, May Do Damage, When Overexpressed, by Causing Excessive “Synaptic Pruning” in the Brain During Development

Excessive activity of an immune system gene (C4) previously linked to schizophrenia reproduces neural and behavioral aspects of the disease in mice, according to a new study published online on January 14, 2020 in the open-access journal PLOS Biology and authored by Dr. Ashley Comer and Dr. Alberto Cruz-Martín of Boston University and colleagues. The article is titled “Increased Expression of Schizophrenia-Associated Gene C4 Leads to Hypoconnectivity of Prefrontal Cortex and Reduced Social Interaction.” The finding provides mechanistic support for the importance of this gene in the development of schizophrenia, and may offer a new avenue for therapy development. Genetic variants that increase the activity of the C4 gene, which encodes part of the immune system's so-called "complement" cascade, have previously been shown to increase risk for schizophrenia in large genome-wide association studies (GWAS). However, the mechanism through which such variants might contribute to the emergence of schizophrenia have not been clear because C4 has not previously been experimentally overexpressed. During normal brain development, it's known that complement sticks to neuronal synapses and attracts microglia (immune cells in the brain), which engulf synaptic material in the process known as "synaptic pruning." When mis-regulated, this process can lead to abnormal connectivity in the brain. Loss of synapses in the prefrontal cortex is a hallmark of schizophrenia, which led the authors to ask whether an overactive C4 gene might contribute to development of schizophrenia through mis-regulation of complement-mediated synaptic pruning by microglia.

January 29th

Bluestar Genomics Breakthrough Study Highlights Promising Data for Multi-Cancer Detection from a Single Blood Draw; Novel Enrichment Technology Indicates High Performance for Breast, Lung, Pancreatic, and Prostate Cancer

On January 29, 2020, Bluestar Genomics, a company developing innovative, data-driven, epigenomic approaches to comprehensive disease analysis and diagnostics, announced publication of a new study demonstrating the efficacy of their 5-hydroxymethylcytosine (5hmC) signal detection technology for its use in breast, lung, pancreatic, and prostate cancer. The study was published online in medRxiv. The article is titled “Pilot Study Demonstrating Changes in DNA Hydroxymethylation Enable Detection of Multiple Cancers in Plasma Cell-Free DNA.” Results from the study provide further evidence that, using a single blood draw, Bluestar Genomics' technology can non-invasively detect cancers and help identify the underlying biology of the disease using epigenetic markers. Breast, lung, pancreatic, and prostate cancer make up 41% of the cancer incidence in the United States. Early detection and a deep understanding of each cancer remain critical for implementing the highest quality of care. Tissue biopsy is invasive, and screening methods are limited for many forms of cancer and often fall short of capturing the complete genomic landscape. Bluestar Genomics uses liquid biopsy combined with 5hmC profiling to provide a detailed picture of the genomic landscape and identify potential biologic pathways that may be driving tumor progression. "We have taken significant strides to strengthen our understanding of the underlying biology related to multiple forms of cancer and the tumor microenvironment," said Samuel Levy, PhD, Chief Executive Officer and Chief Scientific Officer, Bluestar Genomics. "In addition to early-stage cancer detection capabilities, our knowledge of 5hmC distribution across the genome can potentially yield new candidate biomarkers.

January 28th

Biological Dynamics Enters Collaboration with Microsoft to Advance Access to Novel Diagnostic Biomarker Solutions to Life Science Customers

On January 28, 2020, Biological Dynamics, Inc., an innovative diagnostic company committed to improving global health, announced it has been accepted to Microsoft's One Commercial Partner (OCP) program. The company will use the comprehensive development solutions available to OCP partners to develop and establish a research service delivery model, to provide Microsoft’s Life Science partners and customers access to cutting-edge molecular diagnostic solutions powered by Biological Dynamics’ novel isolation platform. Within the last decade, the discoveries brought forward by personalized medicine have transformed both basic research and drug development. Today, drug developers continue to expand their liquid biopsy toolsets beyond traditional techniques, incorporating the results of genetic and proteomic analysis of the content of the emerging class of biomarkers, such as extracellular vesicles (EVs). Today, the success of this biomarker-driven drug development model is powered by early integration of novel diagnostic methods with robust data and business platforms, such as Microsoft Azure and OCP, to help ensure seamless data sharing and compliance with major global security and privacy standards. Biological Dynamics is developing a suite of novel assays for pharmaceutical applications, with initial focus on detection of DNA and EV-associated biomarkers and liquid biopsy panels. The assays are being built upon Verita™, the company’s proprietary biomarker isolation platform that isolates DNA and extracellular vesicles (EVs) from plasma and serum without the need to pre-process samples.

January 22nd

Newly Identified T-Cell Receptor (TCR) on Killer T-Cells Recognizes Antigen (MR1) Present on Cells from Many Different Cancers; Discovery Offers Prospect of Universal “One Size Fits All” Therapy for Cancer

Researchers at Cardiff University in Wales have discovered a new type of killer T-cell that offers hope of a “one-size-fits-all” cancer therapy. T-cell therapies for cancer - where immune cells are removed, modified, and returned to the patient’s blood to seek and destroy cancer cells - are the latest paradigm in cancer treatments. The most widely-used therapy, known as CAR-T, is personalized to each patient, but targets only a few types of cancers and has not been successful for solid tumors, which make up the vast majority of cancers. Cardiff researchers have now discovered T-cells equipped with a new type of T-cell receptor (TCR) which recognizes and kills most human cancer types, while ignoring healthy cells. This newly discovered TCR recognizes a molecule present on the surface of a wide range of cancer cells, as well as in many of the body’s normal cells but, remarkably, is able to distinguish between healthy cells and cancerous ones, killing only the latter. The researchers said this meant it offered “exciting opportunities for pan-cancer, pan-population” immunotherapies not previously thought possible. Conventional T-cells scan the surface of other cells to find anomalies and eliminate cancerous cells - which express abnormal proteins - but ignore cells that contain only “normal” proteins. The scanning system recognizes small parts of cellular proteins that are bound to cell-surface molecules that belong to the human leukocyte antigen (HLA) system, allowing killer T-cells to see what’s occurring inside cells by scanning their surface. Proteins in the HLA system vary widely between individuals, which has previously prevented scientists from creating a single T-cell-based treatment that targets most cancers in all people.

January 21st

Psychedelic Drugs Could Help Treat Post-Traumatic Stress Disorder (PTSD)

Clinical trials suggest treatment that involves psychedelic drugs can be more effective than psychotherapy alone. More than three million people in the United States are diagnosed each year with post-traumatic stress disorder (PTSD), whose symptoms include nightmares or unwanted memories of trauma, heightened reactions, anxieties, and depression--and can last months, or even years. People with PTSD--difficulty recovering from experiencing or witnessing a traumatic event--have traditionally been treated with a combination of trauma-focused psychotherapy and a regimen of medications. Many sufferers have not responded well to that treatment, but new research to be presented by the Medical University of South Carolina's Michael Mithoefer, MD, and colleagues, at the annual meeting of the American College of Neuropsychopharmacology (Orlando, Florida, December 8-11, 2019 (, suggests that the combination of some psychedelic drugs and traditional psychotherapy holds promise. Psychedelic substances are often found in nature and have been used in various cultures over thousands of years. Formal medical research into their medicinal uses starting in the 1950s produced promising results published in major journals, but was largely halted in the 1970s for political rather than for medical or scientific reasons. More recent studies argue that, when administered in a controlled clinical setting, MDMA (more commonly known as ecstasy) and psilocybin (the active ingredient in "magic mushrooms") (photo here is of psilocybin mushrooms) have acceptable risk profiles --and patients who experienced temporary adverse reactions did not require additional medical intervention.