Syndicate content

Archive - Oct 2019

Date

October 15th

Sequencing African Genomes Yields New Data Resource with Broad Applicability

By collaborating globally in a new, large-scale effort, researchers have made strong progress in sequencing genomes from regions and countries across Africa. These findings will enable more broadly representative and relevant studies ranging from basic through clinical genetics. The researchers' new data and preliminary observations were presented as a featured plenary abstract at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston. The abstract is titled “High-Depth Genome Sequencing in Diverse African Populations Reveals the Impact of Ancestral Migration, Cultural Demography, and Infectious Disease on the Human Genome.” "There is a dearth of baseline genetic data for African populations," said Neil Hanchard, MD, DPhil, Assistant Professor at the Baylor College of Medicine, who presented the work. As part of the Human Heredity and Health in Africa (H3Africa) Consortium, a collaborative effort supported by the National Institutes of Health to conduct genomic research in Africa, Dr. Hanchard and his colleagues sequenced the whole genomes of 426 individuals from 13 African countries, whose ancestries represented 50 ethnolinguistic groups from across the continent. Of the 426 genomes sequenced, 320 were analyzed at high depth. This allowed the researchers to examine rare genetic variants in an accurate and quantifiable way, in addition to the common variants that have been the focus of most of the previous genetic studies in Africans, Dr. Hanchard explained.

Genomenon’s Mastermind to be Integrated into SOPHiA Platform; Genomic Search Engine to Provide Direct Links to Genomic Evidence in SOPHiA’s Solutions; Combination Should Enable Much Faster, More Thorough, More Democratized Genomic Analysis

On October 15, 2019, at the American Society of Human Genetics Annual Meeting (ASHG) 2019 annual meeting, Genomenon® announced a partnership with SOPHiA GENETICS that includes incorporating the Genomenon’s Mastermind® Genomic Search Engine into the SOPHiA Platform and the Alamut Suite. The partnership puts the most up-to-date genomic research at the fingertips of clinical researchers performing genomic analysis worldwide. The SOPHiA Platform is the technology of choice for streamlined Data-Driven Medicine, including clinical-grade genomic analysis, interpretation, and reporting. SOPHiA has been adopted by 1,000 healthcare institutions to date, and has analyzed over 420,000 genomic profiles, with 16,000 new profiles processed each month. The Alamut Suite, which is powered by SOPHiA, is a decision-support software designed to explore and investigate variations of the human genome. Alamut helps clinical researchers in the complex tasks of genomic variants annotations, filtration, and exploration. With the addition of Mastermind, users of both technologies will be able to quickly access the genomic evidence associated with human variants, shortening the search time required to interpret a variant and assess its pathogenicity. This partnership will allow SOPHiA’s users to see a wider picture of the detected variants. A key driver in the decision is the breadth and depth of Mastermind’s coverage of genomic variants and published literature. Mastermind has indexed over 7 million full-text articles and 600,000 supplemental data sets and covers over 5.7 million variants found in the medical literature. “This partnership will help experts better and more quickly assess the impact of accurately detected genomic variants in a clinical context.

American Society of Human Genetics (ASHG) Annual Meeting Opens in Houston, Texas; Meeting Highlights Discoveries in Genetic Research & Progress to Improve Health &Treat Disease; Thousands Attend from Around the World

Thousands of genomics and genetics researchers, professors, doctors, genetic counselors, nurses, and others from around the world will gather in Houston, Texas, October 15-19, for ASHG 2019, to share their latest research about the benefits of human genetics and genomics research, one of the fastest-growing fields of modern health care development. ASHG 2019, the annual meeting of the American Society of Human Genetics (ASHG), is the world’s largest source of emerging news and cutting-edge science across the rapidly expanding fields of human genetics and genomics. Scientists from nearly 80 countries will take part in more than 3,400 scientific presentations, workshops, and collaborative events. This will be the first time that Houston has hosted ASHG’s annual meeting since the organization was founded in 1948. Hosting ASHG 2019 in Houston, a major epicenter of biomedical and life sciences, offers ASHG and its members an outstanding venue to inform the general public of new scientific knowledge that is changing the way we diagnose and treat disease, understand human history, and unravel fundamental biologic mysteries. It comes at a time when Houston’s position as an international leader in biomedical research is growing rapidly and will expand with the construction of a collaborative 30-acre biomedical research campus downtown. “The remarkable research that we will see at this meeting is transforming our knowledge about the role of genetics in human health and, increasingly, our ability to improve treatments and outcomes,” ASHG President Dr. Leslie G. Biesecker said. “This scientific progress will be on display in Bayou City and will demonstrate the essential role of robust funding for biomedical research to further revolutionize health care and successful treatments.

October 14th

Koala Epidemic Provides Lesson on How DNA Protects Itself from Viruses

In animals, infections are fought by the immune system. Studies on an unusual virus infecting wild koalas, by a team of researchers from the University of Massachusetts Medical School and the University of Queensland, reveal a new form of "genome immunity." The study was published online on October 10, 2019 in Cell. The open-access article is titled “The piRNA Response to Retroviral Invasion of the Koala Genome.” Retroviruses, including pathogens like HIV, incorporate into the chromosomes of host cells as part of their infectious lifecycle. Retroviruses don't usually infect the germ cells that produce sperm and eggs and, therefore, are not usually passed from generation to generation, but this has happened several times during evolution. Of the entire 3 billion nucleotides of the human genome, only 1.5% of the sequence forms the 20,000 genes that code for proteins - and 8% of the human genome comes from fragments of viruses. These pathogen invasions of the genome have sometimes been beneficial. For example, a gene "co-opted" from a virus is required for formation of the placenta in all mammals, including humans. Retroviral infection of germ cells has been a rare, but important, driving force in human evolution. But how the germ cells in mammals respond to pathogen invasion has not been previously described and might be quite different than what happens in other cells of the body. KoRV-A is a retrovirus sweeping through the wild koala population of Australia and it is associated with susceptibility to infection and cancer. KoRV-A spreads between individual animals, like most viruses. Surprisingly, KoRV-A also infects the germline cells, and most wild koalas are born with this pathogen as part of the genetic material of every cell in the body. The team used this system to see how germ cells respond to a retrovirus.

Sleep Apnea May Be Risk Factor for Diabetic Macular Edema

New research from Taiwan shows that severe sleep apnea is a risk factor for developing diabetic macular edema, a complication of diabetes that can cause vision loss or blindness. Diabetic macular edema was also more difficult to treat in patients with severe sleep apnea. While earlier research showed a weak connection between the two conditions, evidence is mounting that sleep apnea exacerbates underlying eye disease. The researchers presented their study on October 14 at AAO 2019, the 123rd Annual Meeting of the American Academy of Ophthalmology (AAO) (https://www.aao.org/annual-meeting), held October 12-15 in San Francisco. When people with diabetes have poor control over their blood sugar levels, the tiny blood vessels at the back of the eye can become damaged. This condition is called diabetic retinopathy and it's a leading cause of blindness in the United States. Sometimes, tiny bulges protrude from the blood vessels, leaking fluid and blood into the retina. This fluid can cause swelling or edema in an area of the retina that allows us to see clearly. Sleep apnea is a sleep disorder in which breathing repeatedly stops and starts, disrupting sleep and causing blood oxygen levels to drop. This drop in oxygen appears to unleash a host of changes in the body that may play a role in injuring blood vessels. People with sleep apnea are at risk of developing hypertension, heart attacks, stroke, and type 2 diabetes.nBut what about the eyes? Researchers believe that sleep apnea may contribute to the development and worsening of diabetic retinopathy by increasing insulin resistance, elevating inflammation and raising blood pressure, all of which can damage the blood vessels at the back of the eye.

Researchers Rediscover Fast-Acting German Insecticide Lost in Aftermath of WWII; Relative of DDT Permits Faster Killing of Insects with Lower Doses and May Have Less Environmental Impact

A new study, published online on October 11, 2019, in the Journal of the American Chemical Society, explores the chemistry as well as the complicated and alarming history of DFDT (image), a fast-acting insecticide. The open-access article is titled “Manipulating Solid Forms of Contact Insecticides for Infectious Disease Prevention.” "We set out to study the growth of crystals in a little-known insecticide and uncovered its surprising history, including the impact of World War II on the choice of DDT--and not DFDT--as a primary insecticide in the 20th century," said Bart Kahr, PhD, Professor of Chemistry at New York University (NYU) and one of the study's senior authors. Dr. Kahr and fellow NYU Chemistry Professor Michael Ward, PhD, study the growth of crystals, which two years ago led them to discover a new crystal form of the notorious insecticide DDT. DDT is known for its detrimental effect on the environment and wildlife. But the new form developed by Dr. Kahr and Dr. Ward was found to be more effective against insects--and in smaller amounts, potentially minimizing its environmental impact. In continuing to explore the crystal structure of insecticides, the research team began studying fluorinated forms of DDT, swapping out chlorine atoms for fluorine. They prepared two solid forms of the compound--a monofluoro and a difluoro analog--and tested them on fruit flies and mosquitoes, including mosquito species that carry malaria, yellow fever, Dengue, and Zika. The solid forms of fluorinated DDT killed insects more quickly than did DDT; the difluoro analog, known as DFDT, killed mosquitoes two to four times faster. "Speed thwarts the development of resistance," said Dr. Ward, a senior author on the study. "Insecticide crystals kill mosquitoes when they are absorbed through the pads of their feet.

BioTechne Receives Favorable Local Coverage Decision for Its ExoDx Prostate (Intel Score) (EPI) Liquid Biopsy Test; Over 60 Million Medicare Beneficiaries Will Be Covered for the Non-Invasive Test Used for Early Detection

On October 10, 2019, Bio-Techne Corporation (NASDAQ:TECH) today announced that the Medicare Administrative Contractor (MAC) National Government Services, Inc. issued a final Local Coverage Decision (LCD) covering the ExoDx Prostate(IntelliScore) – EPI – test for men who are being considered for an initial prostate biopsy. The decision is effective for tests administered on or after December 1, 2019. Following the LCD finalization, more than 60 million Medicare beneficiaries will now be covered for the EPI test effective December 1, 2019. The EPI test is a non-invasive, non-DRE requiring, urine-based, liquid biopsy test intended for men 50 years of age and older who have an elevated Prostate Specific Antigen (PSA) level between 2 – 10 ng/mL and who are being considered for a prostate biopsy. This liquid biopsy test recently received FDA Breakthrough Designation and is included in the NCCN guidelines for early detection in men for both initial and repeat biopsy. It is performed by Exosome Diagnostics, a Bio-Techne brand, in the CLIA-, ISO-, and NY-certified laboratory located in Waltham, Massachusetts, which has processed over 30,000 patient tests to date. The EPI test is a risk assessment tool that assists physicians and their patients with determining if a prostate biopsy is needed when presented with an ambiguous PSA test result. "It's been an extraordinary year for our ExosomeDx platform," commented Chuck Kummeth, Chief Executive Officer of Bio-Techne. "To achieve the NCCN guideline status after two remarkable patient studies was a great success for the ExosomeDx team and the company but attaining FDA breakthrough status was a testament to the strong promise this technology platform can bring to diagnosing cancer.

October 3rd

Deep Brain Stimulation (DBS) of Specific Brain Area Offers Powerful Anti-Depressant Effect Sustained Over Long Time in Those with Treatment-Resistant Depression

A study published online on Friday, October 4, 2019 in the American Journal of Psychiatry found that deep brain stimulation (DBS) of an area in the brain called the subcallosal cingulate (SCC) provides a robust anti-depressant effect that is sustained over a long period of time in patients with treatment-resistant depression--the most severely depressed patients who have not responded to other treatments. The article is titled “Long-Term Outcomes of Subcallosal Cingulate Deep Brain Stimulation for Treatment-Resistant Depression.” The long-term data presented in this study, conducted at Emory University and led by Helen S. Mayberg (photo), MD, now Professor of Neurology, Neurosurgery, Psychiatry, and Neuroscience, and Founding Director of the Nash Family Center for Advanced Circuit Therapeutics at the Icahn School of Medicine at Mount Sinai in New York City, validates earlier work conducted by the research team and lays the foundation for additional studies to refine and optimize DBS for these patients. Deep brain stimulation, currently approved by the U.S. Food and Drug Administration to treat essential tremor, Parkinson's disease, epilepsy, and obsessive-compulsive disorder, is a neurosurgical procedure involving the placement of a neurostimulator (sometimes referred to as a "brain pacemaker"), which sends high-frequency electrical impulses through implanted electrodes deep in the brain to specific brain areas responsible for the symptoms of each disorder. Dr. Mayberg led the first trial of DBS of the subcallosal cingulate white matter, known as Brodmann Area 25, for treatment-resistant depression patients in 2005, demonstrating that it could have clinical benefit.

Solitary Chemosensory Cells (SCCs) in Gums Protect Against Periodontitis, According to New Results from Monell Chemical Sciences Center; SSCs in Mice Express Taste Receptors & Downstream Coupling Protein (Gustducin) Affecting Microbiome in Mouth

Newly discovered chemical-sensing cells in the gums protect the mouth by standing guard against infections that damage soft tissue and destroy the bone that supports the teeth, according to a report from researchers at the Monell Chemical Senses Center and colleagues from China. Their results are described in an open-access article published online on October 3, 2019 in Nature Communications (https://www.nature.com/articles/s41467-019-12505-x). The article is titled “Gingival Solitary Chemosensory Cells Are Immune Sentinels for Periodontitis.” With the help of bitter taste receptors that also detect byproducts from harmful bacteria, these special gum cells trigger the immune system to control the amount and type of bacteria in the mouth and could one day lead to personalized dental treatments against gum disease. Periodontitis is a serious gum disorder induced by an imbalance in the bacteria and other microorganisms of the mouth (the oral microbiome). It is the sixth-most-prevalent infectious disease and the most common cause of tooth loss worldwide. Monell Center Director and President Robert Margolskee, MD, PhD and Monell Center cell biologist Marco Tizzano, PhD, along with colleagues from Sichuan University in China, found that the newly identified cells, known as solitary chemosensory cells (SCCs), are present in the gums of mice. There, these cells express several types of taste receptors along with a downstream coupling protein called gustducin. SCCs are taste-like chemical detectors that sense irritants and bacteria, and biologists have found them throughout the gut, urinary tract, nasal cavities, and now in the gums. "These sensory cells may provide a new approach for personalized treatment of periodontitis by harnessing a person's own innate immune system to regulate their oral microbiome," said Dr. Margolskee.

September 30th

New Treatment Significantly Improves Survival in Women Newly Diagnosed with Advanced Ovarian Cancer; International Study Shows Niraparib (PARP Inhibitor) Administration After Chemotherapy Reduces Risk of Relapse or Death by Nearly 40%

An international study demonstrates that, administering niraparib after conventional chemotherapy treatment in patients newly diagnosed with advanced ovarian cancer, improves their progression-free survival, and reduces their risk of relapse or death from this disease. The primary investigator of this study is Dr. Antonio González Martín, (Co-Director of Clinica Universidad de Navarra (Spain), and president of the Spanish Ovarian Cancer Research Group (GEICO). The New England Journal of Medicine published the research online on September 28, 2019. The NEJM article is titled “Niraparib in Patients with Newly Diagnosed Advanced Ovarian Cancer.” "We evaluated in this study the benefits of using niraparib after standard treatment of ovarian cancer based on chemotherapy after surgery. With this new therapeutic approach, we have observed a significant improvement in patient progression-free survival and a reduction of almost 40% of their risk of relapse,”says Dr. González Martín, first author of the article. Ovarian cancer is diagnosed every year in approximately 205,000 women worldwide, and is the fifth leading cause of cancer death in women in Europe. It is usually diagnosed between 45 and 75 years, although there is a significant number of patients from 30 years. It is the gynecological tumor that causes more deaths because most patients are diagnosed in an advanced stage of the disease, given the absence of early diagnostic techniques. In turn, up to 80% of those affected by advanced ovarian cancer relapse after treatment with surgery and chemotherapy. "This research arises from the need to look for new strategies and alternative therapies that increase the survival of patients with this disease," says an expert.