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Archive - Apr 21, 2020

Study Shows Glaucoma Might Be Successfully Treated with Gene Therapy Using CRISPR-Cas9 Gene Editing to Inactivate Aquaporin 1 Gene in Ciliary Body That Produces Fluid That Maintains Pressure in Eye; Treatment Lowers Intraocular Pressure in Mouse Model

A new study led by scientists at the University of Bristol in the UK has shown that a common eye condition, glaucoma, might be successfully treated with a single injection using gene therapy, which would improve treatment options, effectiveness, and quality of life for many patients. Glaucoma affects over 64 million people worldwide and is a leading cause of irreversible blindness. It is usually caused by fluid building up in the front part of the eye, which increases pressure inside the eye and progressively damages the nerves responsible for sight. Current treatments include either eye drops, laser, or surgery, all of which have limitations and disadvantages. The research team led by academics at the Bristol Medical School: Translational Health Sciences tested a new approach that might provide additional treatment options and benefits. Their findings were published in the March 4,2020 issue of Molecular Therapy. The open-access article is titled “Gene Therapy for Glaucoma by Ciliary Body Aquaporin 1 Disruption Using CRISPR-Cas9.” The researchers designed a gene therapy and demonstrated proof of concept using experimental mouse models of glaucoma and human donor tissue. The treatment targeted part of the eye called the ciliary body, which produces the fluid that maintains pressure within the eye. Using the latest gene-editing technology called CRISPR, a gene called Aquaporin 1 in the ciliary body was inactivated leading to reduced eye pressure. Dr Colin Chu, Visiting Senior Research Fellow in the Bristol Medical School: Translational Health Sciences and corresponding author, said: "Currently there is no cure for glaucoma, which can lead to loss of vision if the disease is not diagnosed and treated early.

Study Identifies Potential Drug Treatments for Telomere Diseases Such As Dyskeratosis Congenita, Aplastic Anemia, Liver Cirrhosis, and Pulmonary Fibrosis; Small Compounds Selectively Lengthen Telomeres in Stem Cells

Capping decades of research, a new study may offer a breakthrough in treating dyskeratosis congenita and other so-called “telomere diseases,” in which cells age prematurely. Using cells donated by patients with the disease, researchers at the Dana-Farber/Boston Children's Cancer and Blood Disorders Center identified several small molecules that appear to reverse this cellular aging process. Suneet Agarwal, MD, PhD, the study's senior investigator, hopes at least one of these compounds will advance toward clinical trials. Findings were published online on April 21, 2020 in Cell Stem Cell ( If so, it could be the first treatment for dyskeratosis congenita (DC) that could reverse all of the disease's varying effects on the body. The current treatment, bone marrow transplant, is high-risk, and only helps restore the blood system, whereas DC affects multiple organs. The article is titled “Small-Molecule PAPD5 Inhibitors Restore Telomerase Activity in Patient Stem Cells.” The compounds identified in the study restore telomeres, protective caps on the tips of our chromosomes that regulate how our cells age. Telomeres consist of repeating sequences of DNA that get shorter each time a cell divides. The body's stem cells, which retain their youthful qualities, normally make an enzyme called telomerase that builds telomeres back up again. But when telomeres can't be maintained, tissues age before their time. A spectrum of diseases can result--not just DC, but also aplastic anemia, liver cirrhosis, and pulmonary fibrosis.

How SARS-CoV-2 (COVID-19) Gets into Respiratory Tissue -- And How It May Exploit One of Our Anti-Viral Defenses; Interferon Boosts ACE2, Which Is Cell Surface Receptor That COVID-19 Binds To

What makes SARS-CoV-2, the virus behind COVID-19, such a threat? A new study, led by Jose Ordovas-Montanes, PhD at Boston Children's Hospital and Alex K. Shalek, PhD, at MIT, pinpoints the likely cell types the virus infects. Unexpectedly, it also shows that one of the body's main defenses against viral infections may actually help the virus infect those very cells. Findings were published online on April 21, 2020 in Cell ( The peer-reviewed study, published as a preprint, will help focus efforts to understand what SARS-COV-2 does in the body, why some people are more susceptible, and how best to search for treatments, the researchers say. The pre-print is titled “SARS-CoV-2 Receptor ACE2 Is an Interferon-Stimulated Gene In Human Airway Epithelial Cells and Is Detected in Specific Cell Subsets Across Tissues.” When news broke about a new coronavirus in China, Dr. Ordovas-Montanes and Dr. Shalek had already been studying different cell types from throughout the human respiratory system and intestine. They also had gathered data from primates and mice. In February, they began diving into these data. "We started to look at cells from tissues such as the lining of the nasal cavity, the lungs, and gut, based on reported symptoms and where the virus has been detected," says Dr. Ordovas-Montanes. "We wanted to provide the best information possible across our entire spectrum of research models." Recent research had found that SARS-CoV-2--like the closely related SARS-CoV that caused the SARS pandemic--uses a receptor called ACE2 (angiotensin-converting enzyme 2) to gain entry into human cells, aided by an enzyme called TMPRSS2 (transmembrane serine protease 2). That led Dr. Ordovas-Montanes and Dr.

Diagnostic Biosensor Detects SARS-CoV-2 (COVID-19) from Nasopharyngeal Swabs in Less Than Minute

According to many experts, early diagnosis and management are critical for slowing the spread of SARS-CoV-2, the new coronavirus that causes COVID-19. Therefore, the race is on to develop diagnostic tests for the virus that are faster, easier and more accurate than existing ones. Now, researchers, reporting online on April 15, 2020 in ACS Nano, have developed a field-effect transistor-based biosensor that detects SARS-CoV-2 in nasopharyngeal swabs from patients with COVID-19, in less than one minute. The open-access article is titled “Rapid Detection of COVID-19 Causative Virus (SARS-CoV-2) in Human Nasopharyngeal Swab Specimens Using Field-Effect Transistor-Based Biosensor,” Currently, most diagnostic tests for COVID-19 rely on a technique called real-time reverse transcription-polymerase chain reaction (RT-PCR), which amplifies DNA that has been produced by reverse transcription from SARS-CoV-2 RNA from patient swabs so that tiny amounts of the virus can be detected. However, the method takes at least 3 hours, including a step to prepare the viral RNA for analysis. Edmond Changkyun Park, PhD, and Seung Il Kim, PhD, both at the Korea Basic Science Institute in the Republic of Korea, and colleagues, wanted to develop a faster diagnostic test that could analyze patient samples directly from a tube of buffer containing the swabs, without any sample preparation steps. The team based its test on a field-effect transistor -- a sheet of graphene with high electronic conductivity. The researchers attached antibodies against the SARS-CoV-2 spike protein to the graphene. When they added either purified spike protein or cultured SARS-CoV-2 virus to the sensor, binding to the antibody caused a change in the electrical current.

Rare Enigmatic South American Ground Beetle Sports Unusual, Likely Multi-Purpose, “Antennal Cleaners”

For 157 years, scientists have wished they could understand the evolutionary relationships of a curious South American ground beetle that was missing a distinctive feature of the huge family of ground beetles (Carabidae). Could it be that this rare species was indeed lacking a characteristic trait known in over 40,000 species worldwide and how could that be? Was that species assigned to the wrong family from the very beginning? The species, Nototylus fryi, or Fry's strange-combed beetle, is known so far only from a single, damaged specimen, found in 1863 in the Brazilian State of Espíritu Santo, that today is kept in the Natural History Museum of London. So rare and unusual, due to its lack of "antennal cleaners" - specialized "combing" structures located on the forelegs and used by carabids to keep their antennae clean, it also prompted the description of its own genus: Nototylus, now colloquially called “strange-combed beetles.” No mention of the structure was made in the original description of the species, so, at one point, scientists even started to wonder whether the beetle they were looking at was in fact a carabid at all. Because the area where Fry's strange-combed beetle had been found was once Southern Atlantic Forest, but today is mostly sugar cane fields, cacao plantations, and cattle ranches, scientists have feared that additional specimens of strange-combed beetles might never be collected again and that the group was already extinct. Recently, however, a US team of entomologists has reported the discovery of a second specimen, one also representing a second species of strange-combed beetles new to science.