Syndicate content

Archive - Jul 8, 2020

Dark Matter of Genome Is Focus of Enlightening Presentation During AACR 2020 Virtual Meeting June 22-24

[This article was written for BioQuick News by Michael A. Goldman, PhD, Professor & Former Chair, Biology, San Francisco State University (SFSU) ( Dr. Goldman has written Op-Ed pieces or letters for the Los Angeles Times, the Wall Street Journal, the Sacramento Bee, the San Francisco Chronicle and the New York Times, as well as a variety of technical articles, including ones appearing in Science and Nature Genetics. He has been Associate Editor for Chromosome Research and a contributing editor to Bio-IT World. Dr. Goldman believes that the public learns much about science and bioethics from fiction, and he reviews novels addressing various aspects of genetic science and its implications, in publications such as Nature, Science, Nature Genetics, and the San Francisco Chronicle. Dr. Goldman can be contacted at This article is copyrighted by Michael A. Goldman. BioQuick News is grateful to Dr, Goldman for this excellent contribution.] ARTICLE BY DR. MICHAEL A. GOLDMAN: Genome projects just seem to nucleate around Washington University in St. Louis. If it isn't the genome, it's the Pangenome or the Epigenome. Dr. Ting Wang (, of the Department of Genetics and McDonnel Genome Institute at Washington University, has been involved in all of them. He currently directs the NIH 4D Nucleome Network Data Coordination Integration Center ( and the NIEHS Environmental Epigenomics Data Center, and his laboratory hosts the WashU Epigenome Browser ( Dr. Wang's own research isn't as pedestrian as you might think.

RNA Is Key in Helping Stem Cells Know What to Become; Polycomb Repressive Complex 2 (PRC2) Requires RNA Binding for Chromatin Localization in Human Pluripotent Stem Cells and for Defining Cellular State, Paper from Nobelist Cech & Rinn Labs Asserts

Look deep inside our cells, and you'll find that each has an identical genome--a complete set of genes that provides the instructions for our cells' form and function. But if each blueprint is identical, why does an eye cell look and act differently than a skin cell or a brain cell? How does a stem cell--the raw material with which our organ and tissue cells are made--know what to become? In a study published online on July 6, 2020 in Nature Genetics (, University of Colorado-Boulder (CU Boulder) researchers come one step closer to answering that fundamental question, concluding that the molecular messenger RNA (ribonucleic acid) plays an indispensable role in cell differentiation, serving as a bridge between our genes and the so-called "epigenetic" machinery that turns them on and off. When that bridge is missing or flawed, the researchers report in their article, a stem cell on the path to becoming a heart cell never learns how to beat. The article is titled “RNA Is Essential for PRC2 Chromatin Occupancy and Function in Human Pluripotent Stem Cells.” The paper comes at a time when pharmaceutical companies are taking unprecedented interest in RNA. And, while the research is young, it could ultimately inform development of new RNA-targeted therapies, from cancer treatments to therapies for cardiac abnormalities. "All genes are not expressed all the time in all cells. Instead, each tissue type has its own epigenetic program that determines which genes get turned on or off at any moment," said co-senior author Thomas Cech (photo) (, PhD, a Nobel laureate and Distinguished Professor of Biochemistry. "We determined in great detail that RNA is a master regulator of this epigenetic silencing and that in the absence of RNA, this system cannot work. It is critical for life."

Experimental Drug (Tofersen from Biogen) Shows Early Promise Against Rare Inherited Form of ALS Caused by Mutations in Superoxide Dismutase 1 (SOD1)

An experimental drug for a rare, inherited form of amyotrophic lateral sclerosis (ALS) (Lou Gehrig’s disease) has shown promise in a phase 1/phase 2 clinical trial conducted at Washington University School of Medicine in St. Louis, Massachusetts General Hospital in Boston, and other sites around the world and sponsored by the pharmaceutical company Biogen Inc. The trial indicated that the experimental drug, known as tofersen, shows evidence of safety that warrants further investigation and lowers levels of a disease-causing protein in people with a type of amyotrophic lateral sclerosis, or ALS, caused by mutations in the gene SOD1 (superoxide dismutase 1). The results of the study, published on July 9, 2020 in the New England Journal of Medicine (, have led to the launch of a phase 3 clinical trial to further evaluate the safety and efficacy of tofersen, The NEJM article is titled "Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS." "ALS is a devastating, incurable illness," said principal investigator Timothy M. Miller (Photo, Credit: Huy Mach), MD, PhD, the David Clayson Professor of Neurology at Washington University and Director of the ALS Center at the School of Medicine. "While this investigational drug is aimed at only a small percentage of people with ALS, the same approach--blocking the production of specific proteins at the root of the illness--may help people with other forms of the illness. "This trial indicated that tofersen shows evidence of safety that warrants further investigation and that the dose we used lowers clinical markers of disease. There are even some signs that it slowed clinical progression of ALS, although the study was not designed to evaluate effectiveness at treating the disease, so we can't say anything definitive.

Hormone (GDF15) Being Studied As Possible Treatment for Obesity Is Risk Factor for Sepsis, New Study Shows; Inhibitor of GDF15 May Be Useful As Complementary Treatment for Sepsis

A group of scientists from the Instituto Gulbenkian de Ciência (IGC) ( in Portugal, led by Luís Moita, PhD, discovered that a hormone that is being studied as a treatment for obesity reduces the resistance to infection caused by bacteria and is a risk factor for sepsis. The work, developed in collaboration among researchers from Portugal, France, Germany, and South Korea, was published online on June 2, 2020 in PNAS. The open-access article is titled “CXCL5-Mediated Recruitment of Neutrophils into the Peritoneal Cavity of Gdf15-Deficient Mice Protects Against Abdominal Sepsis” ( Sepsis is a potentially fatal illness, that derives from a deregulated response of the organism to an infection, leading to organ malfunction. A study recently published in the scientific journal The Lancet (, estimated that, in 2017, sepsis affected 49 million people and 11 million people worldwide have died. With the aim of expanding knowledge about this disease, Dr. Moita’s team at IGC investigated whether the hormone known as GDF15 (growth and differentiation factor 15) could play a role in sepsis. This hormone is currently being widely studied by several laboratories and pharmaceutical companies as a treatment for obesity. “We’ve discovered a critical effect of GDF15 on infection, which is relevant because this hormone increases in many common diseases, like obesity, [and] pulmonary and cardiovascular diseases”, explains Dr. Moita.