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Whole genome sequencing robustly detects the most common inherited neurological diseases and is adopted by healthcare – Yahoo Finance
Posted: February 17, 2022 at 7:59 am
LONDON, Feb. 16, 2022 /CNW/ --
(PRNewsfoto/Queen Mary University of London (QMUL),Genomics England)
study - led by Queen Mary University of London, Illumina, University College London and Genomics England, in conjunction with NHS England - highlights how whole genome sequencing robustly identifies the most common inherited neurological diseases
method now routinely utilised as a single test to support diagnosis of neurological disorders
faster diagnosis possible for conditions like Fragile X syndrome, Huntington's disease & some forms of ALS
WGS identifies neurological disorders in previously undiagnosed patients
Scientists have found whole genome sequencing (WGS) can quickly and accurately detect the most common inherited neurological disorders something previously thought to be impossible with the results supporting the use of WGS as a standard diagnostic tool within routine clinical practice.
The study published today in The Lancet Neurology was led by Queen Mary University of London, Illumina, University College London and Genomics England, in conjunction with NHS England and assessed the diagnostic accuracy of WGS against the test used as standard across the NHS.
This study evaluated the role of WGS in the commonest causes of inherited neurological diseases that usually require multiple tests, a process that results in a long diagnostic odyssey. These repeat expansion disorders have short repetitive DNA sequences that cause disorders such as Fragile X syndrome (intellectual disability), Huntington's disease, Friedreich's ataxia (FA) and some forms of amyotrophic lateral sclerosis (ALS) and frontal lobe or frontotemporal dementia (FTD).
The study first analysed the accuracy of WGS to detect repeat expansion disorders by comparing the test currently in use, PCR (polymerase chain reaction), with WGS from 404 patients previously tested in the NHS. The findings highlighted the accuracy and sensitivity of WGS in detecting these kinds of conditions was equivalent to using PCR tests.
Story continues
Then, the study used WGS from 11,631 undiagnosed people who had clinical features associated with a repeat expansion disorder who are participants in the 100,000 Genomes Project. Among the 68 people who benefited from a diagnosis were six children, some of whom did not have a reported family history of repeat expansion disorders and who previously did not receive a diagnosis, including a 10-year-old girl with an intellectual disability and an 18-year-old teenager with dementia.
The study demonstrated a quicker and more efficient diagnosis can be achieved through whole genome analysis for those patients who have not previously received a diagnosis replacing multiple tests over months or years.
This is because PCR tests are often locus-specific, meaning only one gene is looked at each time. The process is time-consuming and results in the underdiagnosis of people who have atypical clinical presentations, especially children without a previous positive family history. By contrast, a single WGS test can diagnose many disorders.
The findings support using whole genome sequencing within the NHS to diagnose patients whose doctors believe may have a repeat expansion disorder. The benefits of doing so would include:
supplying an answer for a previously undiagnosed condition
relatives knowing that the genetic condition runs in the family
improved understanding of how frequently a genetic mutation appears in the population
an increase in clinical drug / treatment trials
Professor Sir Mark Caulfield from Queen Mary University of London and former Chief Scientist at Genomics England, said: "This represents a major advance in the application of whole genomes enabling detection of previously unexpected inherited neurological disorders. At the moment, diagnosing this type of neurological disorder often depends on people having a family history of the disease or specific clinical symptoms, using WGS we can detect these and new repeat expansion disorders."
Dr Arianna Tucci, Medical Research Council Clinician Scientist fellow at Queen Mary University of London and University College London, said: "Repeat expansion disorders are estimated to affect 1/3000 people. Before this study, it was thought to be difficult to diagnose them using whole genome sequencing. Our study validates the use of whole genome sequencing, a newly introduced genetic test in the National Health Service, to diagnose the commonest form of inherited neurological diseases."
Dr Richard Scott, Chief Medical Officer at Genomics England, said: "This is a clear example of the sort of innovation that we are proud to have helped accelerate and of the impact the UK has been able to have by linking research with routine care in genomics. This work has allowed us to deploy new tools that can detect variation in the genome that more targeted sequencing misses. This has already led to diagnoses and better care for the families with rare disease in the 100,000 Genomes Project and is being used to support diagnosis in the NHS Genomic Medicine Service."
Dr Ryan Taft, Vice President of Scientific Research at Illumina, said: "This study demonstrates that whole genome sequencing can be used in clinical laboratories for the diagnosis of patients who have a neurological disorder, such as Huntington's disease. For the large percentage of patients with suspected repeat expansion disorders who remain undiagnosed, this should bring hope that a diagnosis may soon be possible."
Professor Dame Sue Hill, Chief Scientific Officer for England, said: "This research demonstrated the power of whole genome sequencing in helping to detect common neurological conditions and how it can lead to faster and more accurate diagnoses. We are already seeing the benefit of WGS in a clinical setting through the NHS Genomic Medicine Service and this research further proves the benefits of this kind of testing."
Eileen, a patient at The Ataxia Centre in London and who was diagnosed with Friedreich's ataxia through the study, said: "Having Friedreich ataxia has taken away everything I've loved. Over the last 15 years I've gone from someone who was confident, loved to dance and socialise to now using a walker and having slurred speech. Now when I meet people, I immediately think that they might be judging me.
"Before my diagnosis, I thought it would be better if I had cancer as there's usually a clear path of action to help you fight the disease. Having a diagnosis isn't a cure, but at last I knew what was happening and to understand what I needed to do to delay the inevitable for as long as possible. I do Pilates and work with a personal trainer twice week to maximise my strength and fitness to combat the progression. I am grateful to the London Specialist Ataxia Centre whose research programme allowed me to have a definitive genetic diagnosis, that otherwise would have taken many years to be made, if at all. I feel it is beneficial for patients with rare diseases to go to specialist centres where research is ongoing.
"Just as importantly, getting definitively diagnosed meant my family could also have a genetic test. Sadly, the Ataxia Centre could swiftly confirm that my younger sister also has FRDA so she's doing everything to combat progressions.
"There are currently no cures for FRDA but I'm looking to the future with much more optimism hopefully there will be a treatment in the not-so-distant future."
Professor Patrick Chinnery, Clinical Director at the Medical Research Council, said: "Many patients with neurological disorders never receive a precise diagnosis. This new study shows how whole genome sequencing can address this challenge through a genuinely national programme, taking world-leading research to patients across the whole of England and improving their health care."
NOTES TO EDITORS
This research was funded by the National Institute for Health Research, Wellcome, Medical Research Council, Cancer Research UK, Department of Health and Social Care, and NHS England.
About Genomics England (https://www.genomicsengland.co.uk)
Genomics England works with the NHS to bring forward the use of genomic healthcare and research in Britain to help people live longer, healthier lives. Genomics is a ground-breaking area of medicine that uses our unique genetic code to help diagnose, treat and prevent illnesses. Established in 2013, Genomics England launched the world-leading 100,000 Genomes Project with the NHS, demonstrating how genomic insights can help doctors across the NHS, and building a foundation for the future by assembling a unique dataset. The project was achieved thanks to patients and participants helping to shape it and guiding decisions on data and privacy.
Genomics England is now expanding its impact. Our next chapter involves working with patients, doctors and scientists to improve genomic testing in the NHS and help researchers access the health data and technology they need to make new medical discoveries and create more effective, targeted medicines for everybody.
About the 100,000 Genomes Project
The 100,000 Genomes Project is a now-completed UK Government project managed by Genomics England that sequenced whole genomes from NHS patients. The project focused on rare diseases, some common types of cancer, and infectious diseases.
Participants gave consent for their genome data to be linked to information about their medical condition and health records. The medical and genomic data is shared with researchers to improve knowledge of the causes, treatment and care of diseases.
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Whole genome sequencing robustly detects the most common inherited neurological diseases and is adopted by healthcare - Yahoo Finance
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Single-Cell Genome Sequencing Market Business Development, Size, Share and Opportunities 2022 to 2029 The UB Post – The UB Post
Posted: at 7:58 am
Globalization is reaching at the highest level day by day and hence global market research has become quite imperative which helps businesses with decision making. An influentialSingle-Cell Genome Sequencing Marketresearch report considers several market aspects to offer solution for the toughest business questions. This market report provides estimations about the key factors of the industry with the precise and perfect data that is useful for the business. This market report takes into account key market dynamics, existing market scenario and future prospects of the sector. By carrying out top to bottom examination of the industry, the comprehensiveSingle-Cell Genome Sequencing Marketreport gives evaluations about the income, return on investment (ROI) and developing business strategies.
Two more major success factors of an influentialSingle-Cell Genome Sequencing Marketreport can be mentioned here which are market share analysis and key trend analysis. The research methodology employed in the report by DBMR research team is data triangulation which includes data mining, studying the impact of data variables on the market, and primary validation by industry experts. Being a proficient and a comprehensive in nature, this report focuses on primary and secondary market drivers, market share, leading segments and geographical analysis. With the nice blend of integrated approaches and latest technology, best results are achieved in the form of top notchSingle-Cell Genome Sequencing Marketresearch report.
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Market Analysis and Insights: Single-Cell Genome Sequencing Market
The rising prevalence of chronic diseases coupled with rising geriatric population which is most susceptible to such diseases are the two factors attributable to the growth of single-cell genome sequencing market. Data Bridge Market Research analyses that the single-cell genome sequencing market will project a CAGR of 14.5% for the forecast period of 2022-2029.
Significant market makers enrolled in this report are:
The major players covered in the single-cell genome sequencing market report are F. Hoffmann-La Roche Ltd, Thermo Fisher Scientific Inc., QIAGEN, Bio-Rad Laboratories, Inc., Takara Bio Inc., BD, Agilent Technologies, Inc., 10x Genomics., Oxford Nanopore Technologies., BGI, Pacific Biosciences of California, Inc., DNA Electronics, Tecan Genomics, Inc., Novogene Co., Ltd., Zephyrus Biosciences, Inc., Johnson & Johnson Services, Inc., 1CellBio, Inc., Mission Bio., Fluxion Biosciences
BrowseFull TOC, Table and Figures:https://www.databridgemarketresearch.com/toc/?dbmr=global-single-cell-genome-sequencing-market&Shiv
The Single-Cell Genome Sequencing Market is sectioned based on item, twisted sort and end client. The development among these sections will assist you with breaking down small development portions in the enterprises, and furnish the clients with significant market outline and market experiences to assist them in settling on essential choices for distinguishing proof of center with showcasing applications.
The market report is portioned into the application by the accompanying classes:
Global Single-Cell Genome Sequencing Market, By Type (Instruments and Reagents), Technology (NGS, PCR, Q-PCR, Microarray and MDA), Workflow (Single Cell Isolation, Sample Preparation and Genomic Analysis), Disease Area (Cancer, Immunology, Prenatal Diagnosis, Neurobiology, Microbiology and Others), Application (Circulating Cells, Cell Differentiation, Genomic Variation, Subpopulation Characterization and Others), End User (Academic and Research Laboratories, Biotechnology and Biopharmaceutical Companies, Clinics and Others), Country (U.S., Canada, Mexico, Germany, Italy, U.K., France, Spain, Netherlands, Belgium, Switzerland, Turkey, Russia, Rest of Europe, Japan, China, India, South Korea, Australia, Singapore, Malaysia, Thailand, Indonesia, Philippines, Rest of Asia- Pacific, Brazil, Argentina, Rest of South America, South Africa, Saudi Arabia, UAE, Egypt, Israel, Rest of Middle East and Africa) Industry Trends and Forecast to 2029
Features Major Key Factors in Single-Cell Genome Sequencing Market Report:
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Cutthroat Rivalry:
The research report incorporates an investigation of the cutthroat scene present in the Single-Cell Genome Sequencing Market. It incorporates an appraisal of the current and impending patterns that players can put resources into. Moreover, it additionally incorporates an assessment of the monetary viewpoints of the players and clarifies the idea of the opposition.
Key inquiries responded to in the report include:
About US Data Bridge set forth itself as an unconventional and neoteric Market research and consulting firm with unparalleled level of resilience and integrated approaches. We are determined to unearth the best market opportunities and foster efficient information for your business to thrive in the market. Data Bridge endeavors to provide appropriate solutions to the complex business challenges and initiates an effortless decision-making process.
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Single-Cell Genome Sequencing Market Business Development, Size, Share and Opportunities 2022 to 2029 The UB Post - The UB Post
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Second Genome to Host Virtual KOL Event to Discuss the Role of Mucosal Healing and PAI-1/2 in Inflammatory Bowel Disease on February 23 – PRNewswire
Posted: at 7:58 am
BRISBANE, Calif., Feb. 14, 2022 /PRNewswire/ -- Second Genome, a biotechnology company that leverages its proprietary platform to discover and develop precision therapies and biomarkers, today announced that it will host a virtual key opinion leader (KOL) event focused on the role of mucosal healing and plasminogen activator inhibitor (PAI)-1/2 in inflammatory bowel disease (IBD) on Wednesday, February 23, 2022, from 12:00 1:00 p.m. EST.
In addition to a brief pre-clinical program overview of SG-5-00455, Second Genome's development candidate for the treatment of IBD, the event will include a presentation and a Q&A panel with renowned experts in the field, including:
A live webcast of the event will be available on the Events page of the Second Genome website at http://www.secondgenome.com/news/events and at this direct link, and a replay will be accessible following the program.
About SG-5-00455
SG-5-00455, the Company's development candidate for the treatment of IBD, could potentially be a first-in-class precision therapeutic that targets PAI-1/2 and directly improves tissue repair and mucosal healing in IBD patients. The development candidate was generated using a novel, naturally derived protein (SG-2-0776), that was subsequently engineered into a Lactococcus lactis (L. lactis) drug delivery system, SG-5-00455, for direct, non-systemic delivery to the gut. SG-5-00455 is currently in IND-enabling studies, and the Company expects to submit an investigational new drug application (IND) to the U.S. Food and Drug Administration (FDA) in the second half of 2022.
About Second Genome
Second Genome is a biotechnology company that leverages its proprietary technology-enabled platform to discover and develop transformational precision therapies based on novel microbial genetic insights. We built a proprietary drug discovery platform with machine-learning analytics, customized protein engineering techniques, phage library screening, mass spec analysis and CRISPR, that we couple with traditional drug development approaches to progress the development of precision therapies for wide-ranging diseases. Second Genome is advancing lead programs in IBD and cancer into IND-enabling studies. We also collaborate with industry, academic and governmental partners to leverage our platform and data science capabilities. We hold a strategic collaboration with Gilead Sciences, Inc., utilizing our proprietary platform and comprehensive data sets to identify novel biomarkers associated with clinical response to Gilead's investigational medicines. We also hold a strategic collaboration with Arena Pharmaceuticals to identify microbiome biomarkers associated with clinical response for their lead program in gastroenterology, etrasimod. For more information, please visit http://www.secondgenome.com.
Investor Contact: Argot Partners 212-600-1902 [emailprotected]
Media Contact: Argot Partners 212-600-1902 [emailprotected]
SOURCE Second Genome
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PerkinElmer’s SIRION Biotech Teams with Centre for Genomic Regulation to Develop New Generation AAV Vectors for Type 1 and Type 2 Diabetes Gene…
Posted: at 7:58 am
Feb. 16, 2022 13:00 UTC
Collaboration aims to evolve precision medicine with cell-specific delivery of gene therapy
WALTHAM, Mass.--(BUSINESS WIRE)--PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced that its SIRION Biotech business, a world leader in viral vector-based gene delivery technologies for gene and cell therapy and vaccine development, and the Centre for Genomic Regulation (CRG), an international biomedical research center of excellence located in Barcelona, Spain, have entered into an agreement to jointly develop new generation adeno-associated virus (AAV) vectors for type 1 and type 2 diabetes gene therapy in the pancreas.
The collaboration combines SIRIONs AAV technology platform and expertise in viral vector development and production with CRGs deep knowledge of genetic regulatory mechanisms. The end goal is to develop AAV vectors that target specific pancreatic cell types and contain payloads that express therapeutic genes under control of cell-specific regulatory elements. This new approach aims to increase the precision, safety, and efficacy of future AAV based gene therapies for diabetes.
As we look to the future of precision medicine, we are excited to collaborate with CRG on new generation AAV vector technology, said Dr. Christian Thirion, founder and managing director of SIRION. The company offers one of the worlds most comprehensive viral vector technology platforms based on lenti-, adeno-, and adeno-associated viruses to expedite gene therapy research and advance drug development. Our hope is that our joint efforts will not only facilitate better gene therapy options for type 1 and type 2 diabetes but also bring the life science industry closer to creating more successful and specialized gene therapies for other diseases such as neuronal disorders.
CRG project leader Professor Jorge Ferrer, an expert in regulatory genomics and diabetes, said, In this joint project we will leverage our development platform for regulatory elements and harness our research results on gene networks from recent years. He added, Teaming with SIRION and translating our findings into real products and applications underscores the importance of having state-of-the art technologies and capabilities that can support others in their own endeavors. Ultimately, such applied science could improve the lives and wellbeing of people around the world.
Collaboration with world-class research organizations such as CRG expands SIRIONs viral vector technology licensing portfolio that the industry can leverage to develop new cell and gene therapies. For more information on Munich, Germany-based SIRION, a PerkinElmer company, please visit http://www.sirion-biotech.com.
About PerkinElmer
PerkinElmer is a leading, global provider of end-to-end solutions that help scientists, researchers and clinicians better diagnose disease, discover new and more personalized drugs, monitor the safety and quality of our food, and drive environmental and applied analysis excellence. With an 85-year legacy of advancing science and a mission of innovating for a healthier world, our dedicated team of more than 16,000 collaborates closely with commercial, government, academic and healthcare customers to deliver reagents, assays, instruments, automation, informatics and strategic services that accelerate workflows, deliver actionable insights and support improved decision making. We are also deeply committed to good corporate citizenship through our dynamic ESG and sustainability programs. The Company reported revenues of approximately $5.0 billion in 2021, serves customers in 190 countries, and is a component of the S&P 500 index. Additional information is available at http://www.perkinelmer.com. Follow PerkinElmer on LinkedIn, Twitter, Facebook, Instagram, and YouTube.
About the Centre for Genomic Regulation
The CRG is a biomedical research center based in Barcelona, Spain which has launched five spin-off companies since 2008. It is home to more than 400 interdisciplinary scientists focused on understanding the complexity of life, from the genome to the cell and the entire organism, and recently created a Medical Genomics Programme. The CRG is a center with a unique research model, focused on recruiting internationally renowned group leaders. It hosts the European Genome-Phenome Archive together with EMBL-EBI, and is partnered with EMBL Barcelona. The CRG is a member of the Barcelona Institute of Science and Technology (BIST) and a CERCA centre within the research system of the Catalan Government.
Factors Affecting Future Performance
This press release contains "forward-looking" statements within the meaning of the Private Securities Litigation Reform Act of 1995, including, but not limited to, statements relating to estimates and projections of future earnings per share, cash flow and revenue growth and other financial results, developments relating to our customers and end-markets, and plans concerning business development opportunities, acquisitions and divestitures. Words such as "believes," "intends," "anticipates," "plans," "expects," estimates, "projects," "forecasts," "will" and similar expressions, and references to guidance, are intended to identify forward-looking statements. Such statements are based on management's current assumptions and expectations and no assurances can be given that our assumptions or expectations will prove to be correct. A number of important risk factors could cause actual results to differ materially from the results described, implied or projected in any forward-looking statements. These factors include, without limitation: (1) markets into which we sell our products declining or not growing as anticipated; (2) the effect of the COVID-19 pandemic on our sales and operations; (3) fluctuations in the global economic and political environments; (4) our failure to introduce new products in a timely manner; (5) our ability to execute acquisitions, and license technologies, or to successfully integrate acquired businesses and licensed technologies into our existing business or to make them profitable, or successfully divest businesses; (6) our ability to compete effectively; (7) fluctuation in our quarterly operating results and our ability to adjust our operations to address unexpected changes; (8) significant disruption in third-party package delivery and import/export services or significant increases in prices for those services; (9) disruptions in the supply of raw materials and supplies; (10) our ability to retain key personnel; (11) significant disruption in our information technology systems, or cybercrime; (12) our ability to realize the full value of our intangible assets; (13) our failure to adequately protect our intellectual property; (14) the loss of any of our licenses or licensed rights; (15) the manufacture and sale of products exposing us to product liability claims; (16) our failure to maintain compliance with applicable government regulations; (17) regulatory changes; (18) our failure to comply with healthcare industry regulations; (19) economic, political and other risks associated with foreign operations; (20) the United Kingdoms withdrawal from the European Union; (21) our ability to obtain future financing; (22) restrictions in our credit agreements; (23) discontinuation or replacement of LIBOR; (24) significant fluctuations in our stock price; (25) reduction or elimination of dividends on our common stock; and (26) other factors which we describe under the caption "Risk Factors" in our most recent quarterly report on Form 10-Q and in our other filings with the Securities and Exchange Commission. We disclaim any intention or obligation to update any forward-looking statements as a result of developments occurring after the date of this press release.
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PerkinElmer's SIRION Biotech Teams with Centre for Genomic Regulation to Develop New Generation AAV Vectors for Type 1 and Type 2 Diabetes Gene...
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Genome Sequencing Market 2021- Global Industry Analysis, By Key Players, Segmentation, Application, Demand And Forecast By 2028 The UB Post – The UB…
Posted: at 7:58 am
Genome Sequencing Marketresearch report begins with a market outlook together with the data integration and capabilities study with the appropriate findings. It has projected strong upcoming growth of the market. The document gives a brief introduction to the research report outlook, TOC, list of tables and figures, an outlook to key players of the market, and comprising key regions. The persuasive Market research report enumerates information about the key companies based on their market position in the present scenario along with data related to the market sales gathered by the manufacturers along with the industry share. Information about the revenue gathered from the segments along with the projected sales for the project duration is stated in the document. Besides, essential insights about the fundamental parameters such as the competition trends and market focusing rate are included in the report.
The genome sequencing market is expected to gain market growth in the forecast period of 2021 to 2028. Data Bridge Market Research analyses that the market is growing with the CAGR of 15.73% in the forecast period of 2021 to 2028 and is estimated to reach 41,151.61 USD million by 2028. The growing of the prevalence of the cancer will help in escalating the growth of the genome sequencing market.
Download Sample (350 Pages PDF) Report: To Know the Impact of COVID-19 on this Industry @ https://www.databridgemarketresearch.com/request-a-sample/?dbmr=global-genome-sequencing-market&shrikesh
Genome sequencing is the procedure of mapping and sequencing of the unique DNA of a person. Genome signifies the entire blueprint of a persons human body. Genome sequencing aids to identify any important differences in the genes, which are a bundle of DNA, in a persons body which can cause a disease or upsurge the likelihood of a disease.
Segmentation:
Global Genome Sequencing MarketBy Product (Consumables, Systems & Software, Services), Technology (PCR, Sequencing, Microarray, Nucleic Acid Extraction & Purification, Others), Application (Diagnostics, Drug Discovery & Development, Precision Medicine, Agriculture & Animal Research, Others), End-User (Research Centers, Academic & Government Institutes, Hospitals & Clinics, Pharmaceutical & Biotechnology Companies, Others), Geography (North America, South America, Europe, Asia-Pacific, Middle East And Africa) Industry Trends & Forecast to 2026
List of Top Key Vendors:
The major players covered in the genome sequencing market report are Thermo Fisher Scientific, Illumina, Inc., QIAGEN, Eurofins Scientific, Agilent Technologies, Inc., Oxford Nanopore Technologies., F. Hoffmann-La Roche Ltd, Bio-Rad Laboratories, Inc., BGI, Danaher., General Electric Company, Eppendorf AG, Abbott, LI-COR, Inc., Siemens, PerkinElmer Inc., Macrogen Inc., DNASTAR, Geneious, Myriad Genetics, Inc., GATC Biotech, Biomatters, New England Biolabs, among other domestic and global players. Market share data is available for global, North America, Europe, Asia-Pacific (APAC), Middle East and Africa (MEA) and South America separately. DBMR analysts understand competitive strengths and provide competitive analysis for each competitor separately.
Complete Report is Available (Including Full TOC, List of Tables & Figures, Graphs, and Chart) @https://www.databridgemarketresearch.com/toc/?dbmr=global-genome-sequencing-market&shrikesh
The genome sequencing market is segmented on the basis of product, technology, application and end user. The growth amongst these segments will help you analyse meagre growth segments in the industries, and provide the users with valuable market overview and market insights to help them in making strategic decisions for identification of core market applications.
The genome sequencing market is analysed and market size insights and trends are provided by country, product, technology, application and end user as referenced above.
The countries covered in the genome sequencing market report are the U.S., Canada and Mexico in North America, Germany, France, U.K., Netherlands, Switzerland, Belgium, Russia, Italy, Spain, Turkey, Rest of Europe in Europe, China, Japan, India, South Korea, Singapore, Malaysia, Australia, Thailand, Indonesia, Philippines, Rest of Asia-Pacific (APAC) in the Asia-Pacific (APAC), Saudi Arabia, U.A.E, South Africa, Egypt, Israel, Rest of Middle East and Africa (MEA) as a part of Middle East and Africa (MEA), Brazil, Argentina and Rest of South America as part of South America.
North America dominates the genome sequencing market because of the nonstop technological advancements by the key players. Furthermore, the high investment in research and development, and the accessibility of scientifically developed of healthcare infrastructure which will boost the growth of the genome sequencing market in the region during the forecast period. Asia Pacific is projected to observe significant amount of growth in the genome sequencing market because of the calculated initiatives undertaken by the international firms to extend their occurrence because of the high customer base.
Provided for Major Regions as Follows:
Some Point of Table of Content:
Table of Content:
Chapter 1: Market Overview
Chapter 1.1: Study Assumptions
Chapter 1.2: Scope of the Study
Chapter 2: Market Economic Impact
Chapter 2.1: Analysis Methodology
Chapter 2.2: Research Phases
Chapter 3: Competition by Manufacturers
Chapter 3.1: Current Market Scenario
Chapter 3.2: Value Chain/Supply Chain Analysis
Chapter 3.3: Government Regulations and Initiatives
Chapter 4: Production, Revenue (Value) by Region
Chapter 5: Supply (Production), Consumption, Export, Import by Regions
Chapter 5.1: Market Drivers
Chapter 5.2: Market Restraints/Challenges
Chapter 5.3: Market Opportunities
Chapter 6: Production, Revenue (Value), Price Trend by Type
Chapter 7: Market Analysis by Application
Chapter 8: Market by Manufacturing Cost Analysis
Chapter 9: Industrial Chain, Sourcing Strategy and Downstream Buyers
Chapter 10: Marketing Strategy Analysis, Distributors/Traders
Chapter 11: Market Geographic Analyses
Chapter 12: Market Effect Factors Analysis
Highlights of this Study Market Research Report:1. To strategically profile key players and comprehensively analyze their market position in terms of ranking and core competencies, and detail the competitive landscape for market leaders2. To describe and forecast the market, in terms of value, for various segments, by region North America, Europe, Asia Pacific (APAC), and Rest of the World (RoW)3. Key parameters which are driving this market and restraining its growth4. What all challenges manufacturers will face as well as new opportunities and threats faced by them.5. Learn about the market strategies that are being adopted by your competitors and leading organizations
Some of the key questions answered in this report: Detailed Overview of this Market helps deliver clients and businesses making strategies. Influential factors that are thriving demand and constraints in the market. What is the market concentration? Is it fragmented or highly concentrated? What trends, challenges and barriers will impact the development and sizing of this Market? SWOT Analysis of each key players mentioned along with its company profile with the help of Porters five forces tool mechanism to compliment the same. What growth momentum or acceleration market carries during the forecast period?
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South Africa should rethink regulations on genetically modified plants – The Conversation CA
Posted: at 7:58 am
Food security is a global priority and it is becoming more urgent in the face of climate change, which is already affecting crop productivity. One way to improve food security is to increase crop yields.
But this is not easy. Research has shown that in the past two decades plant breeders have been unable to increase yields of staple crops at the rate at which the worlds population is growing.
New technologies are needed to achieve this rate. Over the past decade several novel technologies have been developed. These are known as New Breeding Techniques and have the potential to hugely help in growing efforts.
Genome editing is one such technique. It allows the precise editing of genomes that is, the genetic information an organism contains. Scientists worldwide have embraced the technology. And countries that adopted New Breeding Techniques early have seen a significant increase in the development of locally relevant products. Current crops under development include ones resistant to specific diseases and insect pests, that are healthier to eat or which are tolerant of drought or heat stress.
Both small, micro and medium enterprises and the public sector in these countries have been involved in developing and using genome edited crops. This should translate to improved economic growth and employment opportunities.
Read more: What is CRISPR, the gene editing technology that won the Chemistry Nobel prize?
Whatever approach a country chooses, it must be underpinned by regulation. This ensures a framework for the introduction of new products that benefit consumers and stimulate the bio-economy in a sustainable manner.
South Africas authorities have taken what we think is an unfortunate approach to regulating genome-edited plants. In October 2021 the government classified genome-edited plants as genetically modified crops. This is based on its interpretation of the definition of a genetically modified organism in a 25-year-old piece of legislation rather than on recent science-based risk analysis considerations.
As experts in plant biotechnology we fear that this regulatory approach will greatly inhibit the development of improved crops for South African farmers. It will place an unnecessary regulatory burden on bio-innovators. This will discourage local investment for in-house research and development, as well as projects in the public sector. Local entrepreneurs who aim to enhance local crops climate resilience or to develop speciality products for niche markets through genome editing will be thwarted by the need to raise disproportionate funding to fulfil current regulations.
Crop plants are improved by generating genetic variation that leads to beneficial traits. Plant breeders traditionally achieved this by crossing different varieties of the same plant species. These approaches alter many genes; the result is that traditionally-bred plants contain both advantageous and deleterious traits. Removing disadvantageous traits before the crop can be commercialised is a costly, time-consuming process.
In the 1980s, transgenic genetic modification technologies were developed. These rely on pieces of DNA from one species being integrated into the genome of a crop. Such genetically modified (GM) plants are highly regulated internationally. In South Africa the legislation governing these plants came into force in 1999. The use of GM technology in South Africa and other countries has been highly successful.
For example, it has led to South Africa doubling maize productivity, making it a net exporter of this commodity. This contributes to food security and also generates foreign income, which reduces the countrys trade deficit.
But the regulations governing GM plants are onerous: only large agricultural biotechnology companies have the resources to commercialise them. This is done to the eliminate risk that GM plants containing new DNA are harmful for health or to the environment.
Because of this, all GM plants licensed for commercial use in South Africa come from a small number of international companies. Not a single locally developed product has been commercialised during the past three decades, despite South Africa being an early adopter of the technology. This hampers the development of novel crops and the improvement of traditional crops, especially for emerging and subsistence farmers in sub-Saharan Africa.
Thats why newer tools like genome editing are so exciting. They can be used to introduce genetic variation for crop improvement in a fraction of the time it would take using conventional methods. Some forms of genome editing are transgenic in nature, while others arent because they dont involve the insertion of foreign DNA into a plant.
This approach mimics the effect of traditional plant breeding, but in a highly targeted manner so that only advantageous traits are introduced. For example, genome editing is being used to produce peanuts, soybean and wheat that do not produce allergens.
Its working well. Despite the technology only being available for a decade, some crops produced using genome editing are already on the market in some countries, including soybean and tomatoes which are healthier for human consumption.
Regulatory authorities around the world have taken either a process- or a product-based approach to regulating GM crop safety. A process-based approach examines how the crop was produced; a product-based approach examines the risks and benefits of the GM crop on a case-by-case basis.
We believe that a product-based approach makes most sense. This is because a process-based approach could lead to the strange situation where two identical plants are governed by very different regulations, just because they were produced by different methods. The added regulatory burden imposed by this approach will also hamper innovation in developing new crops.
Our approach would mean that any plant with extra DNA inserted into the genome would be governed as a GM plant. Plants with no extra DNA added and that are indistinguishable from conventionally bred organisms should be regulated like a conventionally produced crop.
This is the most rational way to regulate these different types of organisms, as it adheres to the principles of science-based risk analysis and good governance.
Many countries, among them Argentina, China, Japan, the US, Australia, Brazil and Nigeria, have taken this approach.
Science-based risk analysis should return to the heart of regulation: concrete risk thresholds should define regulatory triggers.
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New Push To Defeat Covid-19: India Wants To Expand Its Genomic Sequencing Capabilities To Neighbouring Countries – Swarajya
Posted: at 7:58 am
As part of the fight against Covid-19, India stated earlier this week that it is ready to expand its SARS-CoV-2 Genomics Consortium (INSACOG) network of facilities for genomic sequencing and surveillance in the neighbouring countries.
INSACOG is a consortium of 38 laboratories, initiated by the Union Health Ministry, the Department of Biotechnology (DBT), the Council for Scientific and Industrial Research (CSIR) and the Indian Council of Medical Research (ICMR), to monitor genomic variations in the SARS-CoV-2 virus.
Foreign Secretary Harsh Vardhan Shringla made this offer during his presentation at the Covid-19 Global Action Meeting, which was convened by the United States Secretary of State Antony Blinken. This meeting was also attended by foreign ministers and senior representatives from a number of countries and international organisations.
Reportedly, Shringla represented India at the conference because External Affairs Minister S Jaishankar was on an official tour abroad.
Blinken hosted the meeting to coordinate pandemic response efforts, especially in the areas of immunisation, supply chain resilience and improving global health security architecture.
However, according to reports, it is believed that as per Shringla, India will band together with like-minded nations and the World Health Organization (WHO) to enhance sub-optimal approval, as well as regulatory processes that obstruct reliable and regular supplies.
Additionally, it was said that India will endeavour to see that the TRIPS waiver that it co-sponsored with South Africa, is implemented to diversify local manufacturing in regional markets.
During the pandemic, India provided 17 training modules to more than 60 nations as part of its development assistance package.
However, according to the Foreign Secretary, India will use its experience in testing, treating and vaccinating a large population spread across various geographies and terrains to develop customised and tailored capacity building and technical training programmes for front-line and healthcare workers in Asia, Africa and Latin America.
As reported, according to some people familiar with the discussion at the meeting, Shringla stated that India has given CoWIN as an open-source digital public good and is in talks with WHO to sign a Memorandum of Understanding or MoU to share the platform globally through WHO's C-TAP (COVID Technology Access Pool) project.
Shringla noted that India has vaccinated nearly 1.7 billion people, covering 70 per cent of the adult population and the CoWIN has handled up to 25 million daily immunisations.
According to reports, Shringla said that India had provided over 162 million vaccine doses to 97 nations and two UN organisations. He reportedly also cited New Delhi's humanitarian support to Myanmar and Afghanistan.
As per those sources, India's Foreign Secretary stated that the country is working with its QUAD partners to distribute a billion doses across the Indo-Pacific region by 2022.
Shringla focused on the fact that four WHO-approved vaccines, which are Covaxin, Covishield, Covovax and Janssen (Johnson & Johnson jab), as well as three more awaiting approval for Corbevax, ZyCov-D and Gennova are being manufactured in India. According to him, India will be able to make 5 billion doses by 2022.
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New Push To Defeat Covid-19: India Wants To Expand Its Genomic Sequencing Capabilities To Neighbouring Countries - Swarajya
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Air Pollution May Trigger Psoriasis Flares – AJMC.com Managed Markets Network
Posted: at 7:46 am
A JAMA Dermatology study found that greater exposure to air pollutants, such as carbon monoxide and fine particulate matter, were significantly associated with later psoriasis flares.
Higher exposure to air pollutants may increase the risk of flare and more severe disease in patients with psoriasis, according to study findings published today in JAMA Dermatology.
Characterized by a relapsing-remitting course, psoriasis flares have been noted to be triggered by environmental factors, including infections, stressful life events, and drugs. Moreover, worsening of other diseases that share common inflammatory pathways to psoriasis, such as atopic dermatitis, have been associated with exposure to air pollution.
After inhalation, pollutants can circulate in the bloodstream, exerting oxidative damage and causing inflammationair pollutants can directly come into contact with the skin, said the study authors. Whether air pollution could trigger psoriasis flares is not known.
Seeking to investigate whether short-term exposure to environmental air pollution is associated with psoriasis flares, they conducted an observational study, comprised both case-crossover and cross-sectional analyses. They retrospectively analyzed longitudinal data from September 2013 to January 2020 on patients with chronic plaque psoriasis consecutively attending the outpatient dermatologic clinic of the University Hospital of Verona.
Mean and cumulative (area under the curve [AUC]) concentrations of several air pollutants were compared in the 60 days preceding the psoriasis flare and control visits, including for carbon monoxide, nitrogen dioxide, other nitrogen oxides, benzene, coarse particulate matter (PM; 2.5-10.0 mcm in diameter, PM10) and fine PM (< 2.5 mcm in diameter, PM2.5).
Patients recruited for the case-crossover analysis had at least 1 disease flare, defined as Psoriasis Area and Severity Index (PASI) increase of 5 or greater between 2 consecutive assessments in a time frame of 3 to 4 months, whereas patients selected for the cross-sectional analysis included those who received any systemic treatment for 6 or more months, with grade 2 or higher consecutive PASI assessment.
Overall, the study included data on 957 patients with plaque psoriasis with 4398 follow-up visits (mean [SD] age, 61 [15] years; 62.9% male) and more than 15,000 measurements of air pollutant concentrations from the official, open-source bulletin of the Italian Institute for Environmental Protection and Research.
A total of 369 (38.6%) patients with psoriasis flare were included in the case-crossover study and 4072 follow-up visits from 957 patients were used for the cross-sectional analysis.
In findings of the case-crossover study, concentrations of all pollutants (as mean and AUC) were shown to be significantly higher in the 60 days before psoriasis flare (median [interquartile range] PASI, 12 [9-18]), compared with the control visit (median PASI, 1 [1-3); P < .001).
Further sensitivity analyses applying different definitions of psoriasis flare, such as 50% and 100% increases in PASI, indicated that 515 (35.8%) patients had at least a 50% increase and 452 (47.2%) had at least a 100% increase in PASI compared with the control visit, respectively.
Regarding the cross-sectional analysis, exposure to mean PM10 over 20 mcg/m3 and mean PM2.5 over 15 mcg/m3 in the 60 days before assessment were associated with a higher risk of PASI 5 or more points worsening (adjusted OR [aOR], 1.55; 95% CI, 1.21-1.99; aOR, 1.25; 95% CI, 1.0-1.57, respectively). Sensitivity analyses that stratified for trimester of evaluation, with various lag of exposure and adjusting for type of treatment, were found to yield similar results.
Further study is needed to examine whether these findings generalize to other populations and to better understand the mechanisms by which air pollution may affect psoriasis disease activity, the concluded researchers.
Reference
Bellinato F, Adami G, Vaienti S, et al. Association between short-term exposure to environmental air pollution and psoriasis flare. JAMA Dermatol. Published online February 16, 2022. doi:10.1001/jamadermatol.2021.6019
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Air Pollution May Trigger Psoriasis Flares - AJMC.com Managed Markets Network
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Dermavant faces a perfect storm of pressures for tapinarof, but there is hope for the psoriasis drug – FiercePharma
Posted: at 7:46 am
Dermavants tapinarof launch will need to withstand some turbulence, but it still has a chance of breaking through the atmosphere.
This is according to analysts at Jefferies, who forecast stormy weather ahead for the topical psoriasis drug that is looking for a second-quarter approval and a swift launch.
There is a troika of challenges on the horizon for tapinarof. First, COVID: The pandemic is not over, as omicron has reminded us, and this will continue the pressure we have seen on all drug launches.
Jefferies notes that the COVID chaos means many launches have disappointed even from large cap biotechs and pharma, so dont be surprised if Dermavanta small biotech that's part of the Roivant cluster of biopharmasalso ends up struggling.
RELATED: Arcutis' topical cream hits goal in psoriasis phase 3, setting up FDA filing and market showdown
The psoriasis market is already a competitive and a tight one, with high efficacy biologics from several Big Pharmasincluding the $20 billion-a-year Humira from AbbVieJohnson & Johnsons Remicade and its biosimilars along with newer follow-up drugs like Skyrizi and Tremfya. That all combines to put significant pressure on any new drug entry.
Third, Jefferies says that when you look back, past topical launches have generally looked mixed. Older topical creams for the condition include Bausch Healths Duobrii and Almirall/MC2s Wynzora, with the former making just $88 million in 2020 (and the latter only nabbing approval in mid-2020 and yet to report full-year sales).
Jefferies sees tapinarof revenue this year hitting $10 million at the high end, should it launch around mid-2022, and ramping up to $50 million in 2023 for its psoriasis label.
But Dermavant is clearly focused on a strong trajectory and is currently building out a sales team, adding 75 to 100 reps and looking to strengthen market access over the next few months, the analysts said in a note to clients.
Dermavant forked over 150 million pounds sterling ($198 million) upfront in 2018 to get its hands on what was then GlaxoSmithKlines phase 3-ready psoriasis cream. Since then, Dermavant ran its own tapinarof trials, which have broadly shown efficacy, but it's hoping the big win will be on safety.
The current crop of blockbuster psoriasis and plaque psoriasis biologics all need injecting, and the systemic nature of these drugs can lead to immune system-related side effects. A topical cream should, in theory, be safer overall.
RELATED: Dermavant shows deepening effects of tapinarof on psoriasis ahead of FDA filing
But Dermavant already has topical rivals waiting in the wings. Arcutis Biotherapeutics is also anticipating an FDA decision this yearJuly 29, to be exactfor its hopeful ARQ-151, a topical formulation of the PDE4 inhibitor found in AstraZenecas chronic obstructive pulmonary disease treatment Daliresp.
There are also pills for psoriasis on the market, including Amgens Otezla, another PDE4 inhibitor that it bought from Bristol Myers Squibb in 2019.
And then there's Bristols own oral follow-up to that drug, deucravacitinib, a TYK2 drug and a member of the JAK family.
Pfizers Xeljanz, as a JAK inhibitor, is facing the same scrutinyand was all the way back in 2015 slapped with an FDA complete response letter for its oral psoriasis med, with the Big Pharma later giving up on getting it approved for that indication.
Dermavant's new sales team will have to chart a difficult course but will hope to rise to the challenge.
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Dermavant faces a perfect storm of pressures for tapinarof, but there is hope for the psoriasis drug - FiercePharma
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Metabolic syndrome and its components in psoriatic arthritis | OARRR – Dove Medical Press
Posted: at 7:46 am
Introduction
Psoriatic arthritis (PsA) is a chronic autoinflammatory condition distinguished by a variety of clinical phenotypes. It is most frequently associated with patients who have psoriasis (PsO). It is a devastating form of spondyloarthropathy that significantly affects patients life and increases cardiovascular mortality and mortality in general.1,2 Based on a rising awareness and knowledge of the immunologic mechanism, psoriatic disease is increasingly being regarded as a systemic disease, the consequences of which impact more than skin and joint health.3,4 The interest in determining the cardiovascular (CV) disease risk factors linked to PsA and PsO has intensified, with most of the early data and the underlying pathogenetic theories informed by the literature on rheumatoid arthritis (RA).5,6 Retrospective and prospective data from the large observational cohort, and evidence gleaned from various imaging techniques, show that PsO and PsA are linked to increased CV risk.4,7,8 Previous studies also indicate that CV diseases are the leading etiology for deaths in PsA patients, accounting for between 20% and 56% of those deaths.9,10 A relationship has been established in previous studies between increased risk of contracting CV disease in PsA and the existence of cardiometabolic risk factors, namely high blood pressure, adiposity, diabetes, hyperlipidemia, and chronic system inflammation.11 Moreover, the prevalence of MetS, described as an amalgamation of the risk factors mentioned above, is also higher in individuals diagnosed with PsA.
Metabolic syndrome denotes a collection of metabolic risk factors that increase the probability that CV disease will develop. Since the 1940s, there has been evidence that some metabolic abnormalities are associated with CV disease. Insulin resistance (IR), hypertension (HTN), abnormal cholesterol levels, and obesity are examples of these metabolic factors.
Metabolic syndrome is a grouping of five traditional CV risk factors. There are five distinct MetS definitions.1214 However, it has been proven that the various definitions of MetS are comparable in terms of prognosis and therapy.15 According to the most widely used current guidelines, which were revised by the National Heart, Lung, and Blood Institute (NHLBI) as well as the American Heart Association (AHA) in the United States in 2005, the diagnosis of MetS can be made if an individual has a minimum of three out of five of the conditions listed in Table 1.13
Table 1 Definition of Metabolic Syndrome According to AHA/NHLBI Revised in 2005
Metabolic syndrome is increasing in importance as a worldwide health concern. It is typically asymptomatic but significantly influences general health, mainly by increasing the risk of CV disease.
Psoriatic arthritis, Metabolic syndrome, and atherosclerosis may have overlapping inflammatory pathways and genetic predispositions in their underlying pathophysiology (Figure 1). There is an increased prevalence of chronic inflammation mediated by Th1 and Th-17 with cytokine dysregulation in PsA.16,17
Figure 1 The link between inflammation, psoriatic arthritis, and metabolic syndrome; Obesity is one of the important components of metabolic syndrome and is a well-known risk factor for psoriatic arthritis. Both obesity and PsA share a complex relationship that is likely bidirectional. Increased pro-inflammatory cytokines, secretion of adipocytokines from adipose tissue, increased of oxidative and endoplasmic reticulum stress, and dysbiosis of intestinal microbiota all play a role in the development of MetS and increase the risk of cardiovascular disease in psoriatic patients.
The pathogenesis of PsA is complicated and poorly known; The most widely acknowledged hypothesis involves an interplay between genetic predisposition and environmental exposures, resulting in immune-inflammatory pathway dysfunction. In individuals with a certain genetic history, the gut microbiota may be the missing piece in pathogenesis of PsA.
Recent evidence has emerged supporting the gut microbiomes pathogenic role in a different immune-mediated inflammatory disorders, such as diabetes mellitus, spondyloarthritis, and CV disease, the majority of which are well-known comorbidities of PsO and PsA.1820
So far, several studies on the intestinal microbiome of psoriatic patients have already been published, and four of them have demonstrated an imbalance between the two most prevalent intestinal flora, Firmicutes (F) and Bacteroidetes (B), with an increased F/B ratio.21 This kind of gut dysbiosis has been linked to diabetes, obesity, and CV disease.2224 Moreover, the presence of intestinal firmicutes was linked to a higher BMI and greater levels of the proatherogenic chemical trimethylamine-N-oxide, that raises the risk of CV events by enhancing endothelial dysfunction and interfering with cholesterol homeostasis at several levels.25,26
Furthermore, considering the comparable pathogenic aspects of obesity and psoriatic disease, both of which are characterized by similar cytokine profiles, an elevated F/B ratio might be another significant factor contributing to the pathogenesis of both of these diseases.27
Insulin resistance can be caused by a release of different cytokines, for example, tumor necrosis factor-, interleukin-17, or interleukin-6.28 Leptin is another adipokine that has a role in MetS and PsA pathogenesis.29 Increased BMI and IR have been linked to a high level of leptin.30 Endothelial dysfunction and the development of atherosclerotic plaques are caused by these inflammatory cytokines, which produce adhesion molecules and an elevated risk of CVS events in PsA.31
Metabolic syndrome has been discovered to be much more prevalent among people with PsA, PsO, and other inflammatory illnesses than in the overall population.3234 Raychaudhuri et al explored in their study, which included 105 patients with PsA that 58.1% of them diagnosed with MetS based on the AHA/NHLBI guidelines, and 61 of them satisfied a minimum of three out of five criteria for the diagnosis of the condition.35
Previous research by Haroon et al detected MetS in 44% of 283 PsA patients. They also discovered that around half of those diagnosed with MetS showed 4 MetS risk factors, with HTN (74%), increased circumference of the waist (56%), and hypertriglyceridemia (43.5%) appearing more frequently. Moreover, the study found that MetS was correlated with increased odds in patients with severe underlying disease (OR 4.47, p=0.001).7
An increasing amount of clinical research has established that PsO is frequently linked with MetS. Patients with more extensive PsO were shown to have an increased chance to have MetS than those with mild disease.3638 A large cohort study from Toronto investigated the MetS prevalence in PsA and compared them to PsO patients who did not have arthritis, finding a higher but not statistically significant prevalence of MetS in the former.39 Evidence from the literature and recent cross-sectional research indicates that those with PsA with apparent PsO had a higher frequency of MetS compared to PsA patients who did not have PsO (40.48% vs 13.16%, p = 0.006, respectively).40
The association between MetS and chronic inflammatory arthritis has also been studied. According to research and growing evidence, higher CV risk is not only attributable to an increase in conventional risk factors; it is also associated with factors involving disease and its therapy, such as chronically high pro-inflammatory cytokines and prolonged glucocorticoid therapy.41,42
A large previous study on the MetS frequency incorporated 930 individuals diagnosed with chronic inflammatory arthritis, with PsA having the highest prevalence (38%) followed by RA (20%) and ankylosing spondylitis (11%). Additionally, no significant correlation was discovered between MetS prevalence and disease longevity in the three inflammatory disorders.43 The frequency of MetS was also increasing in PsA patients than in the RA group in a large corona registry study (27% vs 19%; p = 0.02, respectively), even after demographic variables and BMI adjustments. Moreover, among the components of MetS, diabetes, hypertriglyceridemia, and high BMI were more frequent in PsA patients.33
Obesity is a critical element of MetS that can ultimately cause other conditions to develop, including IR, HTN, and increased lipids. It was described as a chronic slow inflammatory state connected to elevated pro-inflammatory cytokine production that follows a common pathway with psoriatic diseases and has a detrimental effect on disease prognosis.44
The connection between adiposity and PsA is difficult to comprehend. For instance, PsA might increase the risk of obesity by decreasing physical activity levels due to the functional and psychological restrictions of the disease. In contrast, obesity may have occurred before PsA developed, emphasizing that it may be a risk factor for the disease.45
Previous serial case studies indicated an increased likelihood of developing PsA in individuals with PsO whose BMI was higher when they were young adults, regardless of other risk factors or current BMI. Hence, patients who had high BMI at the age of 18 are threefold more likely to acquire PsA during PsO course than those with an average weight at 18. However, the study did have several significant limitations, including the way PsA cases were defined, challenges in identifying a temporal connection between the examined factors, and insufficient verified data regarding how accurately patients could remember their BMI at age 18.46
Li et al conducted a 14-year prospective study that discovered a significant link between BMI and an increased incidence of PsA. Furthermore, they found an ascending positive relationship between weight changes started at the age of 18 and PsA risk. They also discovered an analogous relationship in individuals who acquired PsO during a study follow-up.45
Additionally, a large population study showed a link between obesity and an increased chance of acquiring PsA in both PsO patients and the general population, regardless of other characteristics such as gender or age.47
Insulin resistance is a significant cardiometabolic risk for CVS disease, which causes considerable morbidity and death in individuals with inflammatory arthritis. It is uncertain whether IR is a disease-specific feature or linked to high disease activity phases. Inflammatory cytokines, including TNF, IL-6, and IL1, which have frequent involvement in PSA pathophysiology, have been linked to IR in the liver and adipose tissues, impaired insulin action in human skeletal muscle, and an increased risk of DM.48,49
An observational cohort study found a significant prevalence of IR (16%) among patients with PsA. Additionally, multiple regression analysis was conducted, the results of which indicated a significant relationship between IR and increased severity of underlying PsA disease, elevated BMI, and late-developing PsO.50 Furthermore, Eder et al discovered that diabetes mellitus was 43% more common in the PsA group than the total population. Notably, the severity of underlying psoriatic disease was identified as an important factor for developing diabetes across 11,006 overall person-years of follow-up.51
Additionally, Diabetes was shown to be more frequent in PsA patients than in sex- and age-matched persons without the disease (72%, HR 1.72) in a large population-based cohort study. Interestingly, when controlling for BMI, alcohol consumption, smoking, initial glucocorticoid utilization, and co-morbidities, the relationship was considerably decreased but remained significant (33%, HR 1.33) in PsA patients.52 As a result, the presence of inflammatory mediators cannot be entirely blamed for the development of diabetes; nevertheless, other variables, such as overweight and lifestyle habits, may also play an important role.
Furthermore, after controlling for atherosclerosis risk factors in individuals with PsA vs RA or ankylosing spondylitis, Mok et al discovered that PsA patients had more significant impairment in glucose tolerance (OR 2.58, P.001) compared to RA or ankylosing spondylitis patients.43
Hypertension is another essential component of MetS that is linked with an elevated risk of developing CVS disease. Studies indicated that HTN prevalence among PsA patients ranges from 25% to 49%.43,53,54 Furthermore, a large population study reported an increase in the frequency of HTN among those with PsA than in the general population (45.6% vs 35.8%, P < 0.0001 respectively).55 Moreover, individuals with PsA had a higher frequency of HTN than patients having only PsO (29% vs 18%, OR 1.7).56 Similarly, a study of a large cohort from the University of Toronto found also an increase in the HTN frequency among those with PsA in comparison to PsO patients with no arthritis (adjusted OR 2.17), even after controlling for known CVS traditional factors, medication history, as well as PsO duration and severity.32
In a large meta-analysis, the odds ratio of HTN was higher in individuals whose PsO was severe (OR 1.13) than those whose PsO was milder (OR1.09). Therefore, this finding emphasizes the significant contribution of inflammation-promoting arterial stiffness, which is linked to elevated hazard of CV events.57
Hypertension prevalence studies in patients diagnosed with different kinds of arthritis revealed a greater prevalence and incidence of HTN in PsA. A higher frequency (19.9% vs 18.6%) and incidence was reported in patients who had PsA than those with RA. Moreover, there was also an increased incidence of HTN among PsA patients in comparison to controls (HR 1.37) than among individuals with RA compared to controls (HR 1.16).11
Dyslipidemia is well known as an independent cardiometabolic risk for CV disease.58 The relationship between dyslipidemia and PsA has been controversial and inconsistent in previous studies. One explanation for this might be that various definitions of dyslipidemia are used throughout the research, making it impossible to compare data concerning the relative prevalence. Furthermore, it has yet to be confirmed if dyslipidemia considered as a distinct cardiometabolic risk factor for CVD in PsA beyond obesity.
According to the findings of a large PsA cohort study conducted in the Middle East, participants with PsA had a greater prevalence of hyperlipidemia than the total population (OR 1.5, P.0001).55 In addition, Kimhi et al discovered a rise in the prevalence of hypertriglyceridemia, hypercholesterolemia, and low-density lipoprotein (LDL) among PsA patients in their study (p < 0.005, p < 0.0001, and p < 0.0001, respectively).53 Based on data from a previous study on PsA, hypercholesterolemia and hypertriglyceridemia were linked with subclinical atherosclerosis.42
In large HUNT research, hypertriglyceridemia was more frequent in PsA groups when compared to controls. However, it was not statistically relevant after controlling for BMI. Other lipid values were comparable in both groups.59 In contrast, another study indicated that PsA patients had reduced total and LDL cholesterol levels but increased high-density lipoprotein (HDL) cholesterol, apolipoprotein A1 (Apo A1), and Apo B levels in PsA patients than in controls. Moreover, after controlling for BMI and hsCRP, the Apo B/Apo A1 ratio was considerably more elevated among the PsA groups than in the control groups. However, triglyceride levels were comparable across the two groups.54
Apo A1 is regarded to be a significant indicator of increased CV events with possible benefits above HDL cholesterol since it is responsible for transferring and functioning as the principal protein inhibiting atherogenesis in HDL particles.60
Apo B also carries all particles of lipoproteins that are potentially atherogenic. Although there is no consensus on the Apo B/Apo A1 ratio real use in previous studies, the cholesterol balance calculated based on the ratio has been demonstrated to be a superior measure compared with total lipids and lipoproteins levels.61 There is not yet a comprehensive understanding of the mechanisms behind these alterations in patients lipid levels with inflammatory diseases in the literature.
Additionally, multiple factors influence serum lipid levels, such as the patients diet and their usage of biologics or DMARDs. Apo B and triglyceride were elevated in those with PsA after commencing therapy with TNF inhibitor (TNFi), indicating a possible link between inflammation intensity and lipid abnormalities.62 Thus, because disease activity and anti-inflammatory medications can cause changes in lipid components, it is recommended that lipid profiling should ideally be performed when a patient is in stable condition or has entered remission.63
Metabolic syndrome raises the hazard of CV disease and atherosclerosis in PsA patients.6467 A persistent underlying inflammatory state and pathogenetic pathways are shared by MetS, atherosclerosis, and inflammatory arthropathies.68,69 A persistent low-grade inflammatory condition with imbalanced immuno-inflammatory pathways and fatty acid metabolism in the artery wall promotes endothelial dysfunction.70
An increase in the carotid artery intima-media thickness(c-IMT), a predictor of pre-atherosclerosis with greater sensitivity, has been seen in PsA. More crucially, a higher risk of inflammation has been linked to the production of atherosclerotic plaques in individuals with PsA over time.7173
Those with PsA disease had a greater likelihood of atherosclerosis, endothelial dysfunction, and c-IMT, both with or without MetS components.42,53 Atherosclerosis is also linked to the severity of both PsA and MetS components, including obesity, diabetes, and hypertension.53
In addition, those with PsA had a greater frequency of MetS and significantly higher c-IMT levels than people with PsO. Furthermore, when PsA and PsO patients with or without MetS were compared, it was shown that PsA individuals with the coexistence of MetS had the highest c-IMT levels.74
In PsA patients, it has been established that the existence of carotid atherosclerosis has a clear association with CV events, which is related to the duration of PsA as well as the inflammatory condition, and it materializes regardless of the existence of conventional CV risk factors.54,64 Thus, chronic inflammation is crucial for the advancement of atherosclerosis in PsA, which works in an independent and/or synergistic manner with traditional risk factors. Furthermore, Eder et al demonstrated that the c-IMT and carotid plaque area were better than the Framingham risk score in predicting an elevated hazard of acquiring CV events in a population of PsA, which adds credence to the hypothesis that CV morbidity is not purely mediated by standard CVD risk factors in such patients.75
Metabolic syndrome and PsA may have a shared predilection for low-grade inflammation; thus, it is crucial to find a suitable therapy that effectively decreases both clinical and subclinical chronic inflammation.
Data from previous studies support the role played by Methotrexate (MTX) in lowering inflammation in patients with chronic inflammatory conditions and consequently reducing CV risk. However, most of the data were derived from rheumatoid arthritis patients.76,77
An observational study that included patients diagnosed with inflammatory arthritis and confirmed to have endothelial dysfunction indicated that all patients experienced a marked improvement in endothelium function following six months of therapy with MTX monotherapy, MTX combined with TNFi, or only TNFi. Nevertheless, after six months of therapy, endothelial function improvement was more sustained and significant in the MTX- treated patient compared to those treated with combination therapy.78
A 12-week pilot study explored the safety of MTX in terms of glucose metabolism in PsA and MetS patients and reported no difference in glycated hemoglobin levels before and after therapy. Thus, MTX usage in this patient group is safe, with no hyperglycemic consequences. In fact, MTX seems to have a beneficial effect on glucose metabolism because commencing MTX therapy reduced glycated hemoglobin levels compared to the use of metformin.79
There is significant debate surrounding the efficacy of TNFi in MetS patients. Numerous studies have demonstrated that TNFi is less effective in obese people.80 In a large meta-analysis, a relationship was established between being an obese and inadequate response to treatment among PsA patients.80 Additionally, Obesity was linked to reduced chances of attenuating lower disease activity in PsA, highlighting the critical need of patients with PsA decreasing weight.81 In contrast, data from another study discovered that the coexistence of MetS did not influence the anti-inflammatory role of TNFi or the risk that minimal disease activity would be attained.82
In a cohort study in which the follow-up period was 24 months, Costa et al found that patients who received etanercept (ETN) and adalimumab treatment exhibited considerable improvements in metabolic syndrome components (circumference of the waist, triglycerides, HDL-C, and glucose) in comparison to MTX group.83 Furthermore, some few studies have revealed that patients managed with TNFi had a decreased chance of getting diabetes than those managed with disease-modifying antirheumatic medication (except hydroxychloroquine).84
The influence of TNFi on the cholesterol level in individuals with the underlying chronic rheumatic disease remains unclear; a comprehensive meta-analysis identified that the use of TNFi increased total cholesterol by 10% and HDL-C by 7% over six months. Moreover, LDL-C and ApoB levels have been shown to increase in small studies.85
Agca et al evaluated 118 PsA patients who had received ETN treatment for a period exceeding five years. They found that LDL-C, HDL-C, and triglyceride levels were all increased. Additionally, the ratio for ApoB to ApoAI was reduced, a finding that may have clinical implications given that an elevated ratio is linked to an increased likelihood of CVD events.86
Numerous large population-based studies have demonstrated that TNFi reduces the frequency of CV events in patient with psoriatic diseases. Armstrong et al found that PsO patients who used TNFi had a lower risk of MI than those who solely used topical therapy.87 In another study from Denmark, TNFi and MTX were linked with lower CV risk relative to topical medicines and phototherapy in PsO patients.88
In accordance with these findings, Wu and Poon found that patients with Psoriatic diseases who used TNFi had a reduced risk of new CV events than those who used other systemic medications or phototherapy.89
So, TNFi appears to have CV safety and maybe benefit, and it is favored over other treatments in patients at elevated CV risk, even though relatively little is known.
There is not enough evidence to indicate whether inhibiting IL-17 or IL12/23 improves metabolic syndrome in PsA patients. However, it has been demonstrated that being obese promotes the growth of T cells that produce IL-17 in fat and peripheral tissues. Furthermore, in patients with MetS, the IL-17R expression levels in the skeletal muscles and liver were linked to insulin resistance.56 Therefore, according to a large multi-center study, PsO patients who are obese have a lower response to secukinumab.90 However, another study found that obese PsA individuals may respond better to secukinumab than non-obese patients.91
Concern has been raised about the anti-IL-12/23 class of medications and the incidence of CV disease in PsA. However, a large, randomized trial on people with PsO found no association between ustekinumab usage and the risk of CV disease.92 More evidence on the CV safety of anti-IL-12/23 medications in psoriatic individuals is needed.
For therapy in PsA patients to be optimized, it is necessary to treat the skin and joint condition and identify and effectively manage co-morbidities.63 Much additional research must be done to fully grasp the complicated connection between PsA and MetS. The specific PsA variables linked to MetS must be identified, and it must be determined whether anti-inflammatory treatment approaches have any beneficial effect on MetS. Additionally, despite the existence of various DMARDs for the treatment of PsA, other factors, including the presence of co-morbidities, particularly MetS and CVS disease, must be taken into account when choosing suitable drugs for PsA management.93,94 The European Alliance of Associations for Rheumatology strongly encourages the adoption of lifestyle changes to mitigate CV risk factors.63 However, more investigation is needed to determine whether these strategies can augment or alter the effect of therapy on patients with MetS burden.
Psoriatic arthritis can present with various extra-articular symptoms that can manifest in isolation or together and that may take variable courses. Metabolic syndrome is intricately linked to systemic inflammation and has multiple inflammatory pathways in common with Psoriatic disease. The link between several components of MetS and psoriatic arthritis has been established, addressing the needs of screening, evaluating, and closely monitoring for co-morbidities. Therefore, rheumatologists should collaborate with other experts to detect MetS and its components as early as possible. In PsA patients with co-morbidities, the most appropriate therapy must be chosen for managing disease activity. Lifestyle changes, including smoking cessation and weight loss, are essential to decreasing CV events in PsA patients.
The author reports no conflicts of interest in this work.
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