Media Advisory

Friday, November 19, 2021

NPC1 leads to difficulty controlling movements, liver and lung disease, impaired swallowing, intellectual decline and death.

Riluzole, a drug approved to treat amyotrophic lateral sclerosis (ALS), a disease affecting nerve cells controlling movement, could slow the gradual loss of a particular brain cell that occurs in Niemann-Pick disease type C1 (NPC1), a rare genetic disorder affecting children and adolescents, suggests a study in mice by scientists at the National Institutes of Health.

The study was conducted by Forbes D. Porter, M.D., Ph.D., of NIHs Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and colleagues in the National Human Genome Research Institute and National Institute of Arthritis and Musculoskeletal and Skin Disease. It appears in Molecular Genetics and Metabolism. The study was supported in part by a grant from the Ara Parseghian Medical Research Foundation.

NPC1 results from an impaired ability to move cholesterol through cells, leading to difficulty controlling movements, liver and lung disease, impaired swallowing, intellectual decline and death. Much of the movement difficulties in NPC1 result from gradual loss of brain cells known as Purkinje neurons. The researchers found that mice with a form of NPC1 have a diminished ability to lower levels of glutamate a brain chemical that stimulates neurons after it has bound to a neurons surface. High levels of glutamate can be toxic to cells. The researchers believe the buildup of glutamate contributes to the brain cell loss seen in the disease. Riluzole blocks the release of glutamate and hence delays the progression of ALS in people.

In the current study, mice with NPC1 survived 12% longer when treated with riluzole, compared to untreated mice. The researchers believe that riluzole or similar drugs may provide a way to slow disease progression in patients with NPC1.

Forbes D. Porter, M.D., Ph.D., NICHD Clinical Director, is available for comment.

Cougnoux, A., et al Reduction of glutamate toxicity: a novel therapeutic approach for Niemann-Pick disease, type C1. Molecular Genetics and Metabolism. 2021.

This media availability describes a basic research finding. Basic research increases our understanding of human behavior and biology, which is foundational to advancing new and better ways to prevent, diagnose, and treat disease. Science is an unpredictable and incremental process each research advance builds on past discoveries, often in unexpected ways. Most clinical advances would not be possible without the knowledge of fundamental basic research. To learn more about basic research, visit https://www.nih.gov/news-events/basic-research-digital-media-kit.

About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): NICHD leads research and training to understand human development, improve reproductive health, enhance the lives of children and adolescents, and optimize abilities for all. For more information, visit https://www.nichd.nih.gov.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

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Repurposed ALS drug shows promise in mouse model of rare childhood genetic disorder - National Institutes of Health

Global Molecular Diagnostics Market to Reach $24,228. 0 Million by 2031. Market Report Coverage - Molecular Diagnostics Market Segmentation.

New York, Nov. 18, 2021 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Molecular Diagnostics Market - A Global and Regional Analysis: Focus on Product, Testing Location, Application, Technology, and End User - Analysis and Forecast, 2021-2031" - https://www.reportlinker.com/p06184570/?utm_source=GNW Products (Kits and Consumables, Systems, Software and Other Products) Testing Location (Laboratory Testing and Point-of-Care (POC) Testing) Application (Core Molecular Diagnostics, Reproductive Genetics, Companion Diagnostics (CDx), Liquid Biopsy, and Others) Technology (Polymerase Chain Reaction (PCR), Next-Generation Sequencing, Isothermal Nucleic Acid Amplification Technology (INAAT), Microarray, In-situ Hybridization (ISH), Immunohistochemistry (IHC) and Other Technologies) End User (Hospitals, Diagnostics Centers, Out-Patient Clinics/General Practitioners, Research Laboratories, and Other End Users)

Regional Segmentation

North America: U.S., Canada Europe: Germany, France, Italy, U.K., Spain, and Rest-of- Europe Asia-Pacific: Japan, China, India, Australia, Singapore, and Rest-of-Asia-Pacific Latin America: Brazil, Mexico, Rest-of-Latin America Rest-of-the-World (RoW)

Market Growth Drivers

A Highly Increasing Prevalence of Infectious Diseases and Various Types of Cancer, Globally Growth in the Biomarker Identification Market and Advancements in Molecular Techniques Increase in Awareness and Acceptance of Personalized Medicines on a Global Level Significant External Funding for Executing Research and Development Exercises

Market Challenges

Uncertain Reimbursement Scenario Lack of High-Complexity Testing Centers Complex Regulatory Frameworks Delaying the Approval of New Molecular Diagnostic Tests

Market Opportunities

Massive Scope for Adoption of Molecular Diagnostics in Emerging Nations Rise of Next-Generation Ultrasensitive Molecular Diagnostics Novel Revenue Streams

Key Companies Profiled

Abbott, Agilent Technologies, Inc., Becton, Dickinson and Company (BD), bioMrieux SA, Bio-Rad Laboratories, Inc., Danaher, F. Hoffmann-La Roche Ltd, Guardant Health, HTG Molecular Diagnostics, Inc., Illumina, Inc., Invivoscribe, Inc., ICON plc, LungLife AI, Inc., QIAGEN, QuantuMDx Group Ltd., Siemens Healthcare GmbH, Thermo Fisher Scientific Inc.

Key Questions Answered in this Report: How is each segment of the market expected to grow during the forecast period 2021-2031, and what is the anticipated revenue to be generated by each segment? What are the major market drivers, challenges, and opportunities in the global molecular diagnostics market? What are the underlying structures resulting in the emerging trends within the global molecular diagnostics market? How is each segment of the global molecular diagnostics market expected to grow during the forecast period, and what will be the expected revenue generated by each of the segments by the end of 2031? What are the key developmental strategies implemented by the major players to sustain in the competitive market? What are the key regulatory implications in developed and developing regions for molecular diagnostics? Who are the leading players with significant offerings to the global molecular diagnostics market? What is the current market dominance for each of these leading players? What would be the compound growth rate witnessed by the leading players in the market during the forecast period 2021-2031? Which molecular diagnostic product type has the most promising growth? What are the key applications in the global molecular diagnostics market? What are the major segments of these applications? What technologies are dominating these application segments? What are the major technologies that are employed in the global molecular diagnostics market? Which is the dominating technology? Who are the primary end-users of the global molecular diagnostics market? Which is the fastest-growing end-user segment in the global molecular diagnostics market? Who are the key manufacturers in the global molecular diagnostics market, and what are their contributions? Also, what is the growth potential of each major molecular diagnostics manufacturer? What is the scope of the global molecular diagnostics market in North America, Europe, Asia-Pacific, Latin America, and Rest-of-the-World? Which molecular diagnostics application and end user dominate these regions? What are the emerging trends in the global molecular diagnostics market? How are these trends revolutionizing the diagnostic procedure? Which technologies are anticipated to break through the current molecular diagnostic regime? Which companies are anticipated to be highly disruptive in the future and why? What are the regulatory procedures that are required to unify the approval process for emerging molecular diagnostics? How will these enhance the reimbursement scenario? What are the gaps in regularizing optimum molecular diagnostic adoption in regular healthcare routines? How are these gaps being tackled?

Market Overview

Diagnostic tests provide critical insights at every stage of medical care - right from the genetic tests providing information about personalized cancer treatment to the microbial culture identifying accurate antibiotics against an infection. The importance of diagnostic tests throughout the entire procedure (i.e., prevention, detection, diagnosis, treatment, and successful management of health conditions) of treating an individual for a particular disease is as consequential as the treatment itself. It has been subjected to extensive research for further refinement of the same.

Our healthcare experts have found the molecular diagnostics market to be one of the stable markets, and the global market is predicted to grow from $10,914.6 million in 2020 to $24,228.0 million in 2031 and is expected to grow with a CAGR of 7.38% during the forecast period 2021-2031.

Factors fueling the growth of the market include a highly increasing prevalence of infectious diseases and various types of cancer, an increase in awareness and acceptance of personalized medicines on a global level, and significant external funding for executing research and development exercises.Despite rapid advanced industry growth, several key issues need to be addressed to facilitate future growth.

Uncertain reimbursement scenarios, lack of high-complexity testing centers, and complex regulatory frameworks delaying the approval of new molecular diagnostic tests are hampering the market growth. Further, some of the opportunities, such as massive scope for the adoption of molecular diagnostics in emerging nations and the rise of next-generation ultrasensitive molecular diagnostics and novel revenue streams, provide growth to the market.

Within the research report, the market has been segmented based on product, testing location, application, technology, end user, and region. Each of these segments covers the snapshot of the market over the projected years, the inclination of the market revenue, underlying patterns, and trends by using analytics on the primary and secondary data obtained.

Competitive Landscape

The exponential rise in the prevalence of infectious diseases and various types of cancer globally has created a buzz among companies to invest in advanced technologies such as molecular diagnostics.

Based on region, North America holds the largest share, owing to improved healthcare infrastructure, rise in per capita income, and improvised reimbursement policies in the region. However, the Asia-Pacific and Europe regions are anticipated to grow at the fastest CAGR during the forecast period.

Countries Covered North America U.S. Canada Europe Germany Italy France U.K. Spain Rest-of-Europe Asia-Pacific China India Singapore Japan Australia Rest-of-Asia-Pacific Latin America Brazil Mexico Rest-of-Latin America Rest-of-the-World (RoW)Read the full report: https://www.reportlinker.com/p06184570/?utm_source=GNW

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

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Molecular Diagnostics Market - A Global and Regional Analysis: Focus on Product, Testing Location, Application, Technology, and End User - Analysis...

Science in the early 20th century was undergoing many simultaneous revolutions. Radiological dating numbered the years of Earths existence in the billions, and eons of sediment demonstrated its geological evolution. The biological theory of evolution had become accepted, but mysteries remained about its selection mechanism and the molecular biology of genetics. Remnants of life dated far, far back, beginning with simple organisms. These ideas came to a head with the question of abiogenesis: could the first life have sprung from non-living matter?

In 1952, a graduate student named Stanley Miller, just 22 years old, designed an experiment to test whether the amino acids that form proteins could be created under the conditions thought to exist on the primordial Earth. Working with his Nobel Prize-winning advisor Harold Urey, he performed the experiment, which is now told time and again in textbooks all over the world.

The experiment mixed water and simple gases methane, ammonia, and hydrogen and shocked them with artificial lightning within a sealed glass apparatus. Within days, a thick colored substance built up at the bottom of the apparatus. This detritus contained five of the basic molecules common to living creatures. Revising this experiment over the years, Miller claimed to find as many as 11 amino acids. Subsequent work varying the electrical spark, the gases, and the apparatus itself created another dozen or so. After Millers death in 2007, the remains of his original experiments were re-examined by his former student. There may have been as many as 20-25 amino acids created even in that primitive original experiment.

The Miller-Urey experiment is a daring example of testing a complex hypothesis. It is also a lesson in drawing more than the most cautious and limited conclusions from it.

In the years following the original work, several limitations curbed excitement over its result. The simple amino acids did not combine to form more complex proteins or anything resembling primitive life. Further, the exact composition of the young Earth did not match Millers conditions. And small details of the setup appear to have affected the results. A new study published last month in Scientific Reports investigates one of those nagging details. It finds that the precise composition of the apparatus housing the experiment is crucial to amino acid formation.

The highly alkaline chemical broth dissolves a small amount of the borosilicate glass reactor vessel used in the original and subsequent experiments. Dissolved bits of silica permeate the liquid, likely creating and catalyzing reactions. The eroded walls of the glass may also boost catalysis of various reactions. This increases total amino acid production and allows the formation of some chemicals which are not created when the experiment is repeated in an apparatus made of Teflon. But, running the experiment in a Teflon apparatus deliberately contaminated with borosilicate recovered some of the lost amino acid production.

The Miller-Urey experiment was based on a complicated system. Over the years, many variables were tweaked, such as the concentration and composition of gases. For the purpose of demonstrating what might be plausible that is, whether biomolecules can be created from inorganic materials it was stunningly successful. But there wasnt a good control. We now see that might have been a pretty big mistake.

One of the elements of art in science is to divine which of innumerable complexities matter and which do not. Which variables can be accounted for or understood without testing, and which ones can be cleverly elided by experimental design? This is a borderland between hard science and intuitive art. It is certainly not obvious that glass would play a role in the outcome, but it apparently does.

A more certain and careful form of science is to conduct an experiment that varies one and only one variable at a time. This is a slow and laborious process. It can be prohibitively difficult for testing complex hypotheses like, Could life evolve from non-life on the early Earth? The authors of the new work performed just such a single-variable test. They ran the entire Miller-Urey experiment multiple times, varying only the presence of silicate glass. The runs performed in as glass vessel produced one set of results, while those using a Teflon apparatus produced another.

Systematically marching through each potential variable, one at a time, might be called brute force. But there is art here too, namely, in deciding which single variable out of many possibilities to test and in what way. In this case, we learned that glass silicates played an important role in the Miller-Urey experiment. Perhaps this means that silicate rock formations on the early Earth were necessary to produce life. Maybe.

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What the famous Miller-Urey experiment got wrong - Big Think

ANN ARBOR, Mich. & BOSTON--(BUSINESS WIRE)--First paragraph, first sentence of release should read: Penrose TherapeuTx, a privately held preclinical stage small molecule drug development company ... (instead of Penrose TherapeuTx, a privately held clinical stage small molecule drug development company ...).

The updated release reads:

PENROSE THERAPEUTX APPOINTS PHARMACEUTICAL LEADER DAVID SHERRIS, PH.D., AS PRESIDENT AND CHIEF EXECUTIVE OFFICER

Veteran industry executive will spearhead the clinical development and commercialization of oncology treatments leveraging Penroses novel mitochondrial modifying agent (MMA) technology

Penrose TherapeuTx, a privately held preclinical stage small molecule drug development company committed to improving patient lives through innovative oncology therapies, today announced the appointment of David Sherris, Ph.D. as President and Chief Executive Officer. Dr. Sherris has over 30 years of experience in translational medicine involving basic research, pharmaceuticals, and diagnostics, and has held numerous senior roles at prominent pharmaceutical companies including Serono, Centocor, Unilever Research and Mateon Therapeutics (formerly OXiGENE).

Penrose TherapeuTx, through unprecedented tissue-driven pharmacologic insights, has pioneered a next-generation class of MMAs which create a selective mitochondrial vulnerability that ultimately leads to cancer cell metabolic collapse. The platform has shown promising preclinical results and the company has developed a lead candidate, RP-0320, which is set to advance into clinical research in the coming year.

With Dr. Sherriss drug development skills, his experience in business development and securing funding for biotechnology companies, we feel confident that he will bring Penrose TherapeuTx to its next phase of success, said Mark de Souza, Chief Executive Officer and Board Member of parent company Tribar Healthcare Partners. We are pleased to bring on such an accomplished scientist and biotech entrepreneur.

Dr. Sherris is a proven serial entrepreneur having developed biotechnology companies from the ground up, devising corporate strategy, enacting programs, successfully established partnerships within the pharmaceutical industry and carrying companies through funding and acquisition. Holding senior positions in public and private companies, Dr. Sherris has led the development of novel therapies from the bench to the clinic. He has published multiple scientific papers and holds patents in a wide range of therapeutic areas including oncology, ophthalmology, dermatology, neurology, gene therapy and infectious disease.

Im excited to lead such an innovative biotechnology company and work with the talented team dedicated to advancing Penroses mitochondrial modifying agents. A first-in-class, small molecule drug technology attacking tumor cells leading to their necrotic death is an exciting and novel means to tackle cancer, said Dr. Sherris, Chief Executive Officer and President of Penrose TherapeuTx. I am grateful for the excellent work Mr. de Souza has done in his role establishing a solid foundation for the company. Im committed to working with the Penrose team, the U.S. Food & Drug Administration and other global regulatory agencies to bring this technology into the next stage of clinical development and ultimately to the market.

Prior to Penrose TherapeuTx, Dr. Sherris was President and Chief Executive Officer of GenAdam Therapeutics, Paloma Pharmaceuticals and VasculoMedics, private biotech companies. The former of which was acquired by PrimeCell and the latter two by RestorGenex, now Diffusion Pharmaceuticals. Dr. Sherris also had senior leadership positions at public biotech companies as Chief Operating Officer and Vice President of Research and Development at OXiGENE, along with Serono, Centocor and Unilever Research.

Dr. Sherris received his Ph.D. in Biochemistry and Molecular Genetics from the University of Utah, held a postdoctoral position in cellular immunology at the Jackson Laboratory and a faculty position in the Department of Medicine, Division of Clinical Immunology at the Mt. Sinai Medical Center, New York, NY.

About Penrose TherapeuTx

Penrose TherapeuTx is a U.S.-based pharmaceutical company focused on developing innovative small-molecule therapies for the treatment of advanced cancers. Penrose has pioneered the development of a novel Mitochondrial Modifying Agent therapeutic platform designed to generate therapies for difficult to treat cancers through a unique cooperative mechanism of action. Our approach has potential broad applicability across both hematologic and solid tumors. Learn more at http://www.penrosetherapeutx.com.

Excerpt from:
CORRECTING and REPLACING Penrose TherapeuTx Appoints Pharmaceutical Leader David Sherris, Ph.D., as President and Chief Executive Officer - Business...

(Salt Lake City, UT) The Utah Department of Health (UDOH) has sponsored COVID-19 testing since the beginning of the pandemic and has added hours, locations, and more tests to the testing options across the state. Tests offered through the UDOH are free and no appointment is necessary. Tests include Abbott ID NOW COVID-19 Rapid Molecular test (this is a Nucleic Acid Amplification TestNAAT), RT-PCR, and rapid antigen. PCR results are usually available within 24-48 hours; rapid PCR and rapid antigen results are usually available within 15-60 minutes. And, now, theres a test-at-home option for some people.

Live in rural Utah, or

Are unable to access a community testing site

Register onlineto see if you qualify for the free mail-based PCR test. It takes about four days to get your test results after registering. This includes the time it takes for you to get the test in the mail, take your sample at home, and mail it back to Fulgent Genetics. The test will be shipped to you by FedEx and must be returned to Fulgent Genetics by FedEx. Test results from the mail-based PCR tests are reported to the Utah Department of Health by Fulgent Genetics.

The UDOH also partnered with NOMI Health (TestUtah) to offer two designated lanes for travel testing In Salt Lake City and St. George. The testing locations are open from 7 a.m. to 7 p.m., Monday through Sunday. Testing for non-travelers is still available at both locations for all other members of the public. Not all travel destinations will accept the types of tests offered at these testing locations. Travelers are responsible for making sure they meet testing or vaccination requirements of their travel destination. For more information on travel testing and requirements, visithttps://coronavirus.utah.gov/travel/.

Excerpt from:
COVID-19 Testing in Utah is Easier than Ever | Utah Department of Health - Utah Department of Health