Category Archives: Molecular Medicine

After dodging Covid-19 for nearly 2.5 years I knew my time would come. But after all those conflicting test results, I was stumped.

How to explain the wonky results? I asked some doctors, academics and scientists and heres what they said:

First, testing discrepancies appear to be increasingly common with Omicron and its subvariants, so some common sense comes in handy. If youre like me and living with people with Covid-19 and feel symptoms develop, youre likely developing Covid-19. So even if your tests say otherwise, stay home.

For rapid antigen tests, serial testing is the name of the game. Test every day or every other day for up to a week if you can. Once you get a positive you can be confident in it, even if its a faint line.

In general, PCR tests are more sensitive than rapid antigen tests and will pick up an infection sooner. But even PCR tests can have false negativesthough the rate is less than 1%say doctors and scientists.

My negative PCR test appears to fall into that small group. I noticed the testing site I was using wasnt as thorough. They definitely werent counting the 15 seconds per nostril that I did at home and barely pushed the swab up my nose.

They could also have missed a very faint line if they werent looking carefully.

Anything you require humans to do will have some amount of error," says Gigi Gronvall, a senior scholar at the Johns Hopkins Center for Health Security.

But its also possible that I experienced rapid viral growth, some doctors and scientists said. So while my morning swab was negative, the virus may have rapidly proliferated in my nose, resulting in my faint positive line eight hours later.

Viruses grow fast," says Dr. Gronvall. They make a lot of themselves when they infect cells and blow them up."

The exact timeline on the tests could also have mattered.

I rushed to the closest express PCR site right after I began to feel the first twinges of a scratchy throat. It was negative. Not surprising since the first symptoms in vaccinated people are often your immune system activating. The next morning, I went to my local testing site for a rapid and PCR test. The rapid was negative.

That afternoon, however, the scratchy throat suddenly felt worse. My head started pounding. I took a Flowflex rapid test: There was a faint line. I wanted to confirm it with a second test. I took a BinaxNow test made by Abbott Laboratories: negative.

I went to bed figuring the PCR result the next day would confirm the worst. Only it also came back negative. I was perplexed.

Over the next day, I took more rapid and PCR tests with mixed results. Eventually, my Covid-19 diagnosis was confirmed on a daily basis with multiple brands of rapid antigen tests over the next week.

Mara Aspinall, a professor of biomedical diagnostics at Arizona State University, says another potential explanation of my results was that there wasnt enough sample in my swab.

I think people dont fully recognize that its not the mucus you want; its the lining of the nose," says Dr. Aspinall, who is on the board of OraSure, a manufacturer of rapid tests. Always blow your nose before a test.

False positive rapid tests are very rare. So you can have confidence in a positive rapid test, no matter how faint the line is, doctors and scientists say. The faint Flowflex test should have been enough confirmation for me.

If youre positive on a PCR or an antigen test you are very, very, very likely to be positive for Covid," says Nathaniel Hafer, assistant professor in the program in molecular medicine at the University of Massachusetts Chan Medical School, who is part of a National Institutes of Health project that conducts lab tests of at-home rapid antigen tests.

Dr. Hafer says false negatives are often due to sampling errors.

Theres a whole lot of things that go from a sample being collected in your nose, transported to the lab, and run by the lab," says Dr. Hafer. The process is pretty robust but weird things happen sometimes."

So how to explain the two different at-home rapid test results taken minutes apart?

Dr. Hafer says the threshold of virus needed to turn a rapid test positive slightly varies between brands, which could explain why a low amount of virus may result in a faint line in one brand and negative in another.

Blythe Adamson, chief executive and founder of Infectious Economics, a New York City-based public-health consulting firm that conducts infection prevention for private businesses, says with BA.5 we have noticed more testing discrepancies than with other variants."

Part of the issue is there are more reinfections and some are happening as early as three weeks after an infection, she says.

Wilbur Lam, who is lead investigator of the National Institutes of Health project monitoring rapid tests sensitivity to Omicron, says his lab has preliminary data indicating that rapid antigen tests are less sensitive with Omicron compared with other variants. Dr. Lam says with Omicron things can change quickly, resulting in disparate test results.

Hours do matter," says Dr. Lam. All of these Omicron subvariants are moving quickly. The windows are suddenly compressed in time."

Another anomaly is happening on the later end of infections, says Dr. Lam. People with negative PCR tests have antigen tests turning positive again.

Rebound infectionswhere antigen tests go from positive to negative back to positiveappear to be happening even in some people who didnt take Paxlovid, the antiviral commonly prescribed to people at risk of severe Covid-19, which can result in rebounds.

Dr. Lam said he personally experienced that with a recent infection despite the fact that he didnt take Paxlovid.

A spokeswoman from Abbott said its assessments, as well as independent researchersstudies, have found that the BinaxNow rapid tests can detect the BA.4 and BA.5 variants with comparable sensitivity as prior variants. Indeed, after my first negative test with Binax it turned up positive in subsequent days.

A representative from ACON Laboratories, the manufacturer of Flowflex, couldnt be reached for comment.

Dr. Adamson says the Flowflex antigen tests appear to be better at detecting the Omicron variants than other brands of rapid tests, which may explain why I got a faint line so early with that brand. It also may explain why I continued to test positive on Flowflex for well over 10 days.

Subscribe to Mint Newsletters

* Enter a valid email

* Thank you for subscribing to our newsletter.

Read the rest here:
When to trust your covid test results and when to question them | Mint - Mint

Company Logo

Dublin, Aug. 23, 2022 (GLOBE NEWSWIRE) -- The "Molecular Diagnostics Market Size, Share, Trends, By Product & Services, By Technology, By Application, By End-use and By Region Forecast to 2030" report has been added to ResearchAndMarkets.com's offering.

The global molecular diagnostics market size is expected to reach USD 50.94 Billion in 2030 and register a revenue CAGR of 12.4% over the forecast period, according to the latest report. The rising prevalence of infectious diseases and cancer is anticipated to fuel demand for molecular diagnostic tests.

Molecular diagnostics is a rapidly evolving field in healthcare that uses nucleic acid-based tests to detect and characterize the genetic content of diseases. It helps in the early diagnosis of disease and can guide personalized treatment decisions. Molecular diagnostic tests are used for various applications, including infectious disease testing, oncology testing, genetic testing, and pharmacogenomics.

Key factors boosting global market revenue growth are the rising prevalence of infectious diseases and cancer, the ever-growing geriatric population, and the increasing demand for personalized medicine. The rapidly evolving field of molecular diagnostics is being used in the early detection, diagnosis, and treatment of various chronic and infectious diseases such as cancer, human immunodeficiency virus (HIV), and hepatitis.

The increasing adoption of point-of-care (POC) testing and the development of novel assays are expected to create significant growth opportunities for the molecular diagnostics market. POC testing is convenient and can provide rapid results, which is expected to increase its adoption in the coming years. In addition, the launch of new products and the expansion of existing product portfolios are expected to drive market growth. For instance, in November 2019, Roche launched two new next-generation sequencing (NGS) panels for cancer diagnosis.

The increasing number of regulatory approvals is another major factor driving the growth of the molecular diagnostics market. For instance, in March 2019, the U.S. Food and Drug Administration (FDA) approved Foundation Medicine's FoundationOne CDx as a complementary diagnostic for all solid tumors. The approval was based on data from a pivotal clinical trial, which showed that the test accurately identified patients who were likely to respond to certain FDA-approved treatments.

The high cost of molecular diagnostics tests is a major factor restraining the growth of the market. Molecular diagnostics tests are expensive, and not all insurance companies cover them. This is expected to hamper the growth of the molecular diagnostics market in the coming years.

Story continues

Market Dynamics

Market Drivers

Market Restraints

Time-Consuming Approval Mechanism

Shortage of Trained Medical Personnel

Insufficient Research Funding in Developing Economies

For the purpose of this report, the publisher has segmented the molecular diagnostics market based on product & services, technology, application, end-use, and region:Product & Services Outlook (Revenue, USD Billion; 2018-2030)

Reagents & Kits

Instruments

Services & Software

Technology Outlook (Revenue, USD Billion; 2018-2030)

Polymerase Chain Reaction (PCR)

Isothermal Nucleic Acid Amplification Technology

DNA Sequencing & Next-generation Sequencing (NGS)

In Situ Hybridization

DNA Microarray

Other Technologies

Application Outlook (Revenue, USD Billion; 2018-2030)

Infectious Diseases

Hepatitis

Human Immunodeficiency Virus (HIV)

Chlamydia Trachomatis / Neisseria Gonorrhoeae(CT/NG)

Healthcare-associated Infections (HAIS)

Human Papillomavirus (HPV)

Tuberculosis

Influenza

Other Infectious Diseases

Oncology

Breast Cancer

Colorectal Cancer

Lung Cancer

Prostate Cancer

Other Cancers

Genetic Tests

Other Tests

End-use Outlook (Revenue, USD Billion; 2018-2030)

Hospitals

Diagnostic Laboratories

Others

Regional Outlook (Revenue, USD Billion; 2018-2030)

Key Topics Covered:

Chapter 1. Market Synopsis

Chapter 2. Executive Summary

Chapter 3. Indicative Metrics

Chapter 4. Molecular Diagnostics Market Segmentation & Impact Analysis

Chapter 5. Molecular Diagnostics Market By Product & Services Insights & Trends

Chapter 6. Molecular Diagnostics Market By Technology Insights & Trends

Chapter 7. Molecular Diagnostics Market By Application Insights & Trends

Chapter 8. Molecular Diagnostics Market by End-use Insights & Trends

Chapter 9. Molecular Diagnostics Market Regional Outlook

Chapter 10. Competitive Landscape

Chapter 11. Company Profiles

Companies Mentioned

For more information about this report visit https://www.researchandmarkets.com/r/j15zw

Read the original here:
Molecular Diagnostics Market Report 2022-2030: Increasing Adoption of Point-Of-Care (Poc) Testing and the Development of Novel Assays Presents...

Eighteen new tenure-track faculty members will join the College of Liberal Arts and Sciences this academic year. Their research interests range from how sociocultural contexts may contribute to disordered eating to the impacts of water insecurity in rural communities. They will also explore health inequalities, superconductivity, government performance, and more.

Get to know these talented scholars and educators.

Thelma Zulfawu Abu joins the Department of Geography as an assistant professor. Abu is an environment and health researcher. Her broad research interests include social and ecological production of health and wellbeing at the intersection of global environmental change, environmental health inequalities, and global health equity. With a Ph.D. from the University of Waterloo, Canada, Abu studies water insecurity and its gendered impacts in rural communities and urban informal settlements, as well as its role in emergency preparedness in health systems in Kisumu, Kenya. Before joining UConn, Abu worked as a postdoctoral fellow at the University of Toronto, where her research focused on building resilient and healthy communities by exploring and learning from the COVID-19 experiences of the Black and immigrant communities in the Greater Toronto area.

Renzo de la Riva Agero joins the School of Public Policy as an assistant professor. He obtained his Ph.D. in public policy from the ONeill School of Public and Environmental Affairs and the Department of Political Science at Indiana University, Bloomington. His work involves research on local administrative capacity, community-based organizations, collaborative governance, and environmental sustainability. His public administration research assesses how varying local governance conditions in the Global South may explain performance differences between more and less complex services. Using statistical analysis and intensive qualitative fieldwork related to waste management services in Peru, he examines how service-specific municipal administrative capacity, the involvement of locally embedded community organizations, and the contours of cogovernance may affect these performance differences.

Amy Egbert joins the Department of Psychological Sciences as an assistant professor. Egbert is a pediatric psychologist whose research focuses on why children and teens eat the way that they do. She is particularly interested in understanding how sociocultural contexts may contribute to disordered eating in youth from racial and ethnic minority backgrounds. She received her Ph.D. in clinical psychology from Loyola University of Chicago and recently completed an NIH T32 postdoctoral fellowship at the Alpert Medical School of Brown University.

Lea Ferreira dos Santos joins the Department of Physics as a professor. She earned her Ph.D. in theoretical physics from the University of So Paulo, Brazil. She was a postdoctoral fellow at Yale University, Michigan State University, and Dartmouth College. She worked at Yeshiva University for 15 years, where she climbed the ranks to full professor and chair. Her research on many-body quantum systems has been continuously funded by the National Science Foundation (NSF). Her awards include the Simons Fellow in Theoretical Physics, Outstanding Referee for the American Physical Society, NSF CAREER Award, and member of the U.S. delegation to the 3rd IUPAP International Conference on Women in Physics.

Karolina Heyduk will join the Department of Ecology and Evolutionary Biology as an assistant professor in January 2023. She received her bachelors degrees in economics and biological aspects of conservation from the University of Wisconsin, Madison in 2011. From there, she went on to complete her Ph.D. at the University of Georgia in the Department of Plant Biology, where she stayed for postdoctoral work until moving to Yale University in 2018 as a Yale Institute for Biospheric Studies Donnelley Fellow. In 2020, she started as an assistant professor at the University of Hawaii at Mnoa and as director of the Joseph F. Rock Herbarium in the School of Life Sciences.

Andy Horowitz joins the Department of History as an associate professor. He also serves as the Connecticut State Historian. A scholar of modern U.S. history, Horowitz is the author of Katrina: A History, 19152015 (Harvard University Press, 2020) and the co-editor of Critical Disaster Studies (University of Pennsylvania Press, 2021). As a public historian, he works to support communities as they engage in acts of collective autobiography. Horowitz was born and raised in New Haven, and before receiving his Ph.D. from Yale University, he was the founding director of the New Haven Oral History Project.

Derek M. Houston joins the Department of Speech, Language, and Hearing Sciences as a professor. Houston received his doctorate in cognitive psychology from Johns Hopkins University in 2000, focusing on how typically developing infants segment words from fluent speech and recognize words across different talkers. After graduating, he constructed the worlds first laboratory to investigate the speech perception and language skills of deaf infants who receive cochlear implants at Indiana University. Since then, his work supported by the National Institute on Deafness and Other Communication Disorders has investigated the role of early auditory experience and parent-child interactions on cognitive, linguistic, and social building blocks of language development. He also engages in community-based participatory research aimed at addressing barriers families face in obtaining high-quality early intervention services for their children.

Peter Lavelle joins the Department of History as an associate professor. His research focuses on histories of the environment, agriculture, and science and technology in late imperial and modern China. Lavelle is the author of The Profits of Nature: Colonial Development and the Quest for Resources in Nineteenth-Century China (Columbia University Press, 2020). He is currently writing a book about Chinese agricultural science and rural development in the nineteenth and early twentieth centuries. In recent years, he has received research funding from the American Council of Learned Societies and the Henry Luce Foundation. Before joining the faculty at UConn, he was an associate professor of history at Temple University.

Nelson Maldonado-Torres joins the Department of Philosophy as a professor. He is co-chair of the Frantz Fanon Foundation and President Emeritus of the Caribbean Philosophical Association. He is also Professor Extraordinarious at the University of South Africa and Honorary Professor at the University of KwaZulu-Natal in Durban, South Africa. Maldonado-Torres work addresses the decolonial turn in Africana, Caribbean, Latin American, and Latinx philosophical thought. He has published extensively in phenomenology, the theory of religion, the philosophy of race, and the theoretical foundations of ethnic studies. His publications include Against War: Views from the Underside of Modernity (2008) and the co-edited anthology Decolonial Feminism in Abya Yala (2022).

Jonas Miller joins the Department of Psychological Sciences as an assistant professor. Miller received his Ph.D. in developmental psychology from the University of California, Davis. He is broadly interested in building and testing developmental models of risk, resilience, and thriving in children and adolescents. In his research, Miller examines the effects of social and physical environments on brain development, aging, empathy, and mental health. Miller is also interested in factors that help us to understand which young people are more likely to be vulnerable versus resilient following exposure to adversity. To study these topics, he uses behavioral observations, neuroscience methods (MRI, fNIRS), and community and environmental health measures (air pollution, socioeconomic conditions).

Mars Plater joins the Department of History as an assistant professor. Plater will begin teaching courses in U.S. and environmental history at the Stamford campus in 2023 after a year of working on their book project as an American Council of Learned Societies (ACLS) Fellow. Plater writes about green spaces of nineteenth-century New York City that were sites of pleasure, struggle, and resistance for the diverse and divided working class. Plater attended Bard College, Brooklyn College, and Rutgers University and has taught courses at Rutgers-Newark, Bard Microcollege, Dickinson College, and CUNY-Queens College.

Camilo Ruiz will join the Department of Anthropology as an assistant professor in January 2023. He is an anthropologist with more than fifteen years of experience in ethnographic and anthropological work in Colombia and the United States. He uses the combined strengths of participatory action research (PAR), anthropology, public health, and the arts to better understand inequalities in urban communities. His dissertation addressed the effects of the new shapes of the HIV and opioids epidemics in Colombia taking as point of departure the experiences of two neglected populations: heterosexual men living with HIV and young men addicted to heroin. He has also conducted extensive research about the dynamics of Latinx communities settling in new growth communities in the U.S. Midwest. His passion for PAR has transformed his teaching into one aligned with pedagogies accessible and attentive to community needs.

Michel Santiago-Martinez (Geo) joins the Department of Molecular and Cell Biology as an assistant professor. Santiago-Martinez is a microbiologist from Universidad Nacional Autnoma de Mxico (UNAM) and The Pennsylvania State University. He is interested in the ecophysiology of archaea and anaerobic bacteria, and how energy status influences their ability to resist environmental stress conditions, such as exposure to oxygen and nutritional starvation. His research goal is to understand the function of anaerobic microorganisms in biogeochemical cycles and host-associated microbiomes. He is also interested in bringing up-to-date knowledge of archaea to the classrooms and outreach activities, as well as promoting more inclusive science through mentoring activities and service initiatives.

Neil Spencer joins the Department of Statistics as an assistant professor. Originally from Canada, he completed his undergraduate degree at Acadia University, a masters degree at University of British Columbia, and his Ph.D. in the Departments of Statistics and Machine Learning at Carnegie Mellon University. Prior to arriving at UConn, he was a postdoctoral research fellow within the Department of Biostatistics in the Harvard School of Public Health. His principal areas of research interest are Bayesian statistics and statistical computation, with applications in forensic science, network science, neuroscience, and medicine.

Pavel Volkov joins the Department of Physics as an assistant professor. He is a condensed matter physicist, specializing in the theory of strongly correlated and quantum materials. He earned his Ph.D. at Ruhr-Universitaet Bochum in Germany, followed by a postdoc at Rutgers University. His work covers topics such as superconductivity, frustrated magnetism, ferroelectricity, and materials with nontrivial topology. One of the most important inspirations behind his work comes from new experimental discoveries. Pavel works closely with several experimental groups around the world. During this academic year, Pavel will be on leave at Harvard University, working on the theory of two-dimensional moire materials, created by stacking single-atomic layers. He also enjoys mentoring students at all levels and bringing cutting-edge science into the classroom.

Jinhai Yu joins the School of Public Policy as an assistant professor. Before coming to UConn, he was a faculty member at the Shanghai University of Finance and Economics. His research examines how policymakers allocate fiscal resources to improve government performance and accountability, focusing on budgetary politics and policy, fiscal policies of natural disasters, and fiscal transparency and accountability. Jinhai earned a Ph.D. in public policy and administration from the Martin School of Public Policy and Administration at the University of Kentucky in 2018.

Georgia Zarkada will join the Department of Physiology and Neurobiology as an assistant professor in January 2023. She studied medicine in Athens, Greece and obtained her Ph.D. in vascular biology from the University of Helsinki in Finland. Her research aims to understand how blood and lymphatic vessels grow and form functional networks during development and in human diseases. Most recently, as a postdoctoral researcher at Yale University, she identified tissue-specific mechanisms required for the vascularization of the mouse neuroretina. Zarkada is a recipient of a K99/R00 Pathway to Independence Award from the National Eye Institute.

Note: Lindsay Butler-Trump will also join the Department of Speech, Language, and Hearing Sciences as an assistant professor in January 2023.

Read the original:
Stellar Scholars Join CLAS Faculty - UConn Today - University of Connecticut

Newswise NEW ORLEANS, La. Ochsner Health, through its Precision Medicine Program, is the first in the nation to incorporate Epics Orders and Results Anywhere integration with its Genomics module. Through Epics partnership with Tempus, which analyzes cancer cells to understand a patients disease at the molecular level, Ochsner physicians can now seamlessly order tests and access discrete biomarkers within the patients electronic health record (EHR) to offer highly personalized cancer treatment options.

This integration greatly enriches the precision care we provide to patients with cancer, said Marc Matrana, MD, MSc, FACP, Medical Director of Precision Medicine at Ochsner Health. Through efficient, streamlined access to discrete genomics data, we can determine a patients unique cancer and tailor treatment for the best possible outcome.

With the click of a button, Ochsner physicians can order a genomic test to identify a patients actionable genomic variants and therapeutic options, including matched clinical trials. This information flows directly into Epic, providing a single view of the patients genomic and clinical information.

The new integration will significantly reduce the amount of time clinicians spend ordering such tests and reviewing results, enabling them to make near real-time, data-driven decisions.

Weve found that these EHR integrations significantly reduce the amount of time physicians spend ordering and reviewing our clinical tests and reports, and as a result spend more time with their patients, equipped with the data needed to make informed treatment decisions, said James L. Chen, MD, Senior Vice President of Cancer Informatics at Tempus. We are thrilled to work with the forward-thinking team at Ochsner to apply this innovative approach in improving outcomes for their patients.

Epic is the most widely used comprehensive health record, and Ochsner relies on it to support a single integrated system across its 47 hospitals and hundreds of clinics across the Gulf South. Clinicians at any hospital on the Epic system can view or access other EHRs, which improves clinician communication and patient care.

"Labs have traditionally sent genetic testing results to providers in PDFs that look nice but dont power precision medicine at the point of care, said Alan Hutchison, Vice President at Epic. The discrete genomic results that Tempus sends back to Ochsner flow directly to patients charts where theyre actionable, not trapped in a PDF report.

For more than 70 years, Ochsner has been dedicated to cancer research and new cancer treatment development, bringing innovations to the fight against cancer with more clinical trials than anywhere else in the region. With a holistic, patient centric approach, Ochsner provides comprehensive care to patients from diagnosis through recovery, including for the most complex and difficult to treat cancers.

Using discrete actionable data to create patient insights is one of Ochsner Information Services guiding principles and this technology will allow us to bring results to our providers in an actionable format to quickly make an impact on patient care. This is another example of how we prioritize patients first initiatives, said Amy Trainor, VP of Clinical Systems, Ochsner Health.

###

About Ochsner Health

Ochsner Health is an integrated healthcare system with a mission toServe, Heal, Lead, Educate and Innovate. Celebrating 80 years in 2022, it leads nationally in cancer care, cardiology, neurosciences, liver and heart transplants and pediatrics, among other areas. Ochsner is consistently named both the top hospital and top childrens hospital in Louisiana by U.S. News & World Report. The not-for-profit organization is inspiring healthier lives and stronger communities. Its focus is on preventing diseases and providing patient-centered care that is accessible, affordable, convenient and effective. Ochsner Health pioneers new treatments, deploys emerging technologies and performs groundbreaking research, including over 700 clinical studies. It has more than 36,000 employees and over 4,600 employed and affiliated physicians in over 90 medical specialties and subspecialties. It operates 47 hospitals and more than 300 health and urgent care centers across Louisiana, Mississippi, Alabama and the Gulf South; and its cutting-edge Connected Health digital medicine program is caring for patients beyond its walls. In 2021, Ochsner Health treated more than 1 million people from every state and 75 countries. As Louisianas top healthcare educator, Ochsner Health and its partners educate thousands of healthcare professionals annually. To learn more, visit https://www.ochsner.org/.

Read more from the original source:
Advancing Precision Oncology, Ochsner Health First to Fully Integrate with Tempus and Epic's Genomics Module - Newswise

A tiny, touch-based sensor uses sweat to detect the level of lithium in the body. Credit: Jialun Zhu and Shuyu Lin

If taken in just the right amount, lithium can alleviate the symptoms of bipolar disorder and depression. Too little wont work, while too much can cause dangerous side effects. Patients must undergo invasive blood tests to precisely monitor the amount of this medication in the body. But today, researchers report the invention of a tiny sensor that detects lithium levels from sweat on the surface of a fingertip in as little as 30 seconds. It is very convenient and doesnt require a trip to the clinic.

The scientists presented their results last week at the fall meeting of the American Chemical Society (ACS). ACS Fall 2022 featured nearly 11,000 presentations on a wide range of science topics.

Not only must lithium be taken at a specific dosage, but patients often struggle to take it as prescribed and may miss pills. This means that when the medication doesnt appear to be working, health care providers need to know how much medication the patient is actually swallowing. However, current options for monitoring have significant drawbacks. For instance, blood draws produce accurate results, but they are invasive and time-consuming. Pill counters, meanwhile, dont directly measure the intake of the medication. To address these limitations, the research team turned to another body fluid.

Although it may not be visible, the human body constantly produces sweat, often only in very small amounts, says Shuyu Lin, Ph.D.. Lin is a postgraduate student researcher who co-presented the work with graduate student Jialun Zhu at the meeting. Small molecules derived from medication, including lithium, show up in that sweat. We recognized this as an opportunity to develop a new type of sensor that would detect these molecules.

Through a single touch, our new device can obtain clinically useful molecular-level information about what is circulating in the body, says Sam Emaminejad, Ph.D., the projects principal investigator, who is at the University of California, Los Angeles (UCLA). We already interact with a lot of touch-based electronics, such as smartphones and keyboards, so this sensor could integrate seamlessly into daily life.

However, devising a sensor to detect lithium presented some technical challenges. Sweat is typically only present in minute amounts, but the electrochemical sensing needed to detect charged particles of lithium required an aqueous, or watery, environment. To provide it, the scientists engineered a water-based gel containing glycerol. This extra ingredient prevented the gel from drying out and created a controlled environment for the electronic portion of the sensor.

The team used an ion-selective electrode to trap the lithium ions after they traversed the gel. Ions accumulate generating a difference in electrical potential compared with a reference electrode. The scientists used this difference to infer the concentration of lithium present in sweat. Together, these components comprise a tiny, rectangular sensor that is smaller than the head of a thumbtack and can detect lithium in around 30 seconds. Although the sensor is still in the preliminary testing phase, ultimately, the research team envisions incorporating it into a larger, yet-to-be-designed system that provides visual feedback to the provider or the patient.

After characterizing the sensor using an artificial fingertip, the researchers recruited real people to test it, including one person on a lithium treatment regimen. The team recorded this persons lithium levels before and after taking the medication. They discovered that these measurements fell close to those derived from saliva, which prior research has shown to accurately measure lithium levels. In the future, the scientists plan to study the effects of lotion and other skin products on the sensors readings.

This technology also has applications beyond lithium. Emaminejad is developing similar touch-based sensors to monitor alcohol and acetaminophen, a painkiller also known by the brand-name Tylenol, while also exploring the possibility of detecting other substances. The complete sensing systems could include additional features, such as encryption secured by a fingerprint, or, for substances that are often abused, a robotic dispensing system that releases medication only if the patient has a low level in their bloodstream.

The research team acknowledges support and funding from the National Science Foundation, Brain and Behavior Foundation, Precise Advanced Technologies and Health Systems for Underserved Populations, and the UCLA Henry Samueli School of Engineering and Applied Sciences.

TitleTouch-based non-invasive lithium monitoring using an organohydrogel-based sensing interface

AbstractLithium salt is one of the most widely-used psychiatric medications for individuals with bipolar disorder. Due to its narrow therapeutic window (~ 0.6 1.2 mM) and high nonadherence rate (~ 40%), it needs to be closely monitored to maximize the treatment efficacy. Standard practices of lithium monitoring for precise dosing are confined to centralized hospitals and involve invasive blood draw and high-cost lab-based analysis with long turnaround time. Moreover, currently there is no direct lithium adherence monitoring available, and the indirect monitoring solutions (e.g., pill counters) are incapable of verifying the actual intake event (inherently non-specific).

Overcoming these limitations, here, we developed a touch-based non-invasive lithium monitoring solution for decentralized lithium pharmacotherapy management. This solution is based on a hydrogel coated-sensing interface that collects and analyzes (in-situ) the flux of circulating lithium molecules that partition onto fingertips. This interface was constructed using a thin organohydrogel-coated lithium ion-selective electrode (TOH-ISE), where the TOH coating was specially engineered to render stabilized conditions for sensing. In particular, by adopting a water-glycerol bi-solvent matrix, the gel was endowed with anti-dehydration property (negligible weight loss for > 2 weeks storage in an ambient environment), resolving the dehydration challenge of previously-reported hydrogel-based interfaces. Furthermore, in the devised interface configuration, the TOH coating serves as a controlled micro-environment to condition the ISE in-situ; thus, it minimizes the ISE signal drift (a key challenge prohibiting the translation of ISEs in real-life applications).

To illustrate the clinical utility of our solution, the developed touch-based sensing interface was tested on a patient prescribed with lithium-based medicine, where the elevation of the circulating drug levels after the medicine intake was successfully captured. Collectively, our preliminary results demonstrate the suitability of our touch-based solution for lithium adherence monitoring, and more broadly for managing lithium-based pharmacotherapy.

See the rest here:
Tiny, Touch-Based Sensor Could Help Patients Stay on Top of Their Medications - SciTechDaily

It was the juice that tipped him off. At lunch, caro de A.T. Pires found the flavor of his grape juice muted, flattened into just water with sugar. There was no grape goodness. I stopped eating lunch and went to the bathroom to try to smell the toothpaste and shampoo, says Pires, an ear, nose and throat specialist at Hospital IPO in Curitiba, Brazil. I realized then that I couldnt smell anything.

Pires was about three days into COVID-19 symptoms when his sense of smell vanished, an absence that left a mark on his days. On a trip to the beach two months later, he couldnt smell the sea. This was always a smell that brought me good memories and sensations, Pires says. The fact that I didnt feel it made me realize how many things in my day werent as fun as before. Smell can connect to our emotions like no other sense can.

As SARS-CoV-2, the virus responsible for COVID-19, ripped across the globe, it stole the sense of smell away from millions of people, leaving them with a condition called anosmia. Early in the pandemic, when Pires juice turned to water, that olfactory theft became one of the quickest ways to signal a COVID-19 infection. With time, most people who lost smell recover the sense. Pires, for one, has slowly regained a large part of his sense of smell. But thats not the case for everyone.

Headlines and summaries of the latest Science News articles, delivered to your inbox

Thank you for signing up!

There was a problem signing you up.

About 5.6 percent of people with postCOVID-19 smell loss (or the closely related taste loss) are still not able to smell or taste normally six months later, a recent analysis of 18 studies suggests. The number, reported in the July 30 British Medical Journal, seems small. But when considering the estimated 550 million cases and counting of COVID-19 around the world, it adds up.

Scientists are searching for ways to hasten olfactory healing. Three years into the COVID-19 pandemic, researchers have a better idea of how many people are affected and how long it seems to last. Yet when it comes to ways to rewire the sense of smell, the state of the science isnt coming up roses.

A method called olfactory training, or smell training, has shown promise, but big questions remain about how it works and for whom. The technique has been around for a while; the coronavirus isnt the first ailment to snatch away smell. But with newfound pressure from people affected by COVID-19, olfactory training and a host of other newer treatments are now getting a lot more attention.

The pandemic has brought increased attention to smell loss. If we have to provide a silver lining, COVID is pushing the science at a speed thats never happened before, says Valentina Parma, an olfactory researcher and assistant director of the Monell Chemical Senses Center in Philadelphia. But, she cautions, we are really far from a solution.

Compared with sight or hearing, the sense of smell can seem like an afterthought. But losing it can affect people deeply. Your world really changes if you lose the sense of smell, in ways that are usually worse, Parma says. The smell of a babys head, a buttery curry or the sharp salty sea can all add emotional meaning to experiences. Smells can also warn of danger, such as the rotten egg stench that signals a natural gas leak.

As an ear, nose and throat doctor, Pires recalls a deaf patient who lost her sense of smell after COVID-19 and enrolled in a clinical trial that he and colleagues conducted on smell training. She worked in a perfumery company her sense of smell was crucial to her job and her life. At the first appointment, she said, with tears in her eyes, that it felt like she wasnt living, Pires recalls.

Unlike the cells that detect color or sound, the cells that sense smell can replenish themselves. Stem cells in the nose are constantly pumping out new smell-sensing cells. Called olfactory sensory neurons, these cells are dotted with molecular nets that snag specific odor molecules that waft into the nose. Once activated, these cells send messages through the skull and into the brain.

Because of their nasal neighborhood, olfactory sensory neurons are exposed to the hazards of the environment. They may be covered with a little layer of mucus, but theyre sitting out there being constantly bombarded with bacteria and viruses and pollutants and who knows what else, says Steven Munger, a chemosensory neuroscientist at the University of Florida College of Medicine in Gainesville.

Exactly how SARS-CoV-2 damages the smell system isnt clear. But recent studies suggest the viruss assault is indirect. The virus can infect and kill nose support cells called sustentacular cells, which are thought to help keep olfactory neurons happy and fed by delivering glucose and maintaining the right salt balance. That attack can inflame the olfactory epithelium, the layers of cells that line parts of the nasal cavity.

Once this tissue is riled up, the olfactory sensory neurons get wonky, even though the cells themselves havent been attacked. After an infection and ensuing inflammation, these neurons slow down the production of their odor-catching nets, a decrease that could blind themselves to odor molecules, scientists reported in the March 17 Cell.

With time, the inflammation settles down, and the olfactory sensory neurons can get back to their usual jobs, researchers suspect. We do think that for post-viral smell disorders, the most common way to recover function is going to be spontaneous recovery, Munger says. But in some people, this process doesnt happen quickly, if ever.

Thats where smell training comes in.

One of the only therapies that exists, smell training is quite simple a good old-fashioned nose workout. It involves deeply smelling four scents (usually rose, eucalyptus, lemon and cloves) for 30 seconds apiece, twice a day for months.

In one study, 40 people who had smell disorders came away from the training with improved smelling abilities, on average, compared with 16 people who didnt do the training, olfactory researcher Thomas Hummel and his colleagues reported in the March 2009 Laryngoscope.

Since then, the bulk of studies has shown that the method helps between 30 and 60 percent of the people who try it, says Hummel, of Technische Universitt Dresden in Germany. His view is that the method can help some people, but it does not work in everybody.

One of the nice things is that there are no harmful side effects, Hummel says. Thats the charming side of it. But to do the training correctly takes discipline and stamina. If you dont do it regularly, and you give up after 14 days, this is futile, he says.

Pires in his recent trial had hoped to speed up the process, which usually takes three months, by adding four more odors to the regimen. For four weeks, 80 participants received either four or eight smells. Both groups improved, but there was no difference between the two groups, the researchers reported July 21 in the American Journal of Rhinology & Allergy.

Its not known how the technique works in the people it seems to help. It could be that it focuses peoples attention on faint smells; it could be stimulating the growth of replacement cells; it could be strengthening some pathways in the brain. Data from other animals suggest that such training can increase the number of olfactory sensory neurons, Hummel says.

Overall, this nose boot camp may be a possible approach for people to try, but big questions remain about how it works and for whom, Munger says. In my view, its very important to be up front with patients about the very real possibility this therapy may not lead to a restoration of smell, even if they and their doctor feel it is worth trying, he says. I am not trying to discourage people here, but I also think we need to be very careful not to give unwarranted promises.

Smell training doesnt come with harmful biological side effects, but it can induce frustration if it doesnt work, Parma says. In her practice, I have been talking to a lot of people who say, I did it every day for six months, twice a day for 10 minutes. I met in groups with other people, so we kept each other accountable, and I did that for six months. And it didnt work for me. She adds, I would want to address the frustration that this induces in patients.

Other potential treatments are coming under scrutiny, such as steroids, omega-3 supplements, growth factors and vitamins A and E, all of which might encourage the recovery of the nasal epithelium.

More futuristic remedies are also in early stages of research. These include epithelial transplants designed to boost olfactory stem cells, treatments with platelet-rich plasma to curb inflammation and promote healing, and even an electronic nose that would detect odor molecules and stimulate the brain directly. This cyborg-smelling system takes inspiration from cochlear implants for hearing and retinal implants for vision.

For many people, the sense of smell is appreciated only after its gone, Parma says, an apathy thats illustrated in stark terms by a recent study of about 400 people. The vast majority of respondents nearly 85 percent would rather give up their sense of smell than sight or hearing. About 19 percent of respondents said they would prefer to give up their sense of smell than their cell phone. The survey results dramatically illustrate the negligible value people place on their sense of smell, researchers wrote in the March Brain Sciences.

Even as a doctor who treats people with smell loss, Pires has a newfound fondness for a good whiff. Having lost it for a while made me appreciate it even more.

Continued here:
COVID-19 gave new urgency to the science of restoring smell - Science News Magazine

The National Institutes of Health has awarded Wayne State University Assistant Professor Shengyi (Iris) Sun, Ph.D., a three-year, $1.18 million grant to investigate the role of endoplasmic reticulum-associated degradation in regulating the biogenesis of the liver protein fibrinogen, a key factor in bleeding disorders and liver diseases.

The study could advance understanding of conformational diseases associated with protein misfolding.

Protein is one of the most important building blocks of our body. Our bodies are made up of thousands of different proteins, each with a specific function, Dr. Sun said. When we make the proteins, just like in a factory, mistakes happen and defective products need to be examined and eliminated. Our research investigates the mechanism mediating such protein quality control process, and how this mechanism is linked to various human diseases, for example, liver diseases.

Dr. Sun is a principal investigator in the Center for Molecular Medicine and Genetics, and the Department of Biochemistry, Microbiology and Immunology.

Novel mechanism underlying fibrinogen biogenesis in the endoplasmic reticulum, is funded by the NIHs National Institute of Diabetes and Digestive and Kidney Diseases.

A large number of human diseases are now recognized as conformational diseases, caused by protein misfolding and subsequent aggregation, she said. One example is hepatic fibrinogen storage disease, where the underlying cause is the endoplasmic reticulum, or ER retention and aggregation of fibrinogen mutants, leading to liver damage, hypofibrinogenemia and excessive bleeding. However, the molecular events underlying the biogenesis and quality control of both wildtype and mutant fibrinogen in the ER remain unknown.

Fibrinogen is essential for hemostasis. Its aberrant biogenesis is directly linked to bleeding disorders and liver diseases.

This application, with parallel physiological and biochemical studies, will establish a direct link between endoplasmic reticulum-associated degradation and fibrinogen biogenesis, uncover novel mechanisms underlying protein aggregation and inclusion bodies in the ER, and advance our understanding of disease pathogenesis and therapeutic approaches associated with protein misfolding and aggregation in general, Dr. Sun said.

Her co-investigators are University of North Carolina at Chapel Hill scientist Matthew Flick, Ph.D., and Michigan State University scientist James Luyendyk, Ph.D.

The award number for this NIH grant is R01DK128077.

Link:
Dr. Sun lab wins R01 from National Institutes of Health to study liver proteins - Wayne State University

-- Annual From Laboratory to Clinic conference, held at Trinity College, Oxford University, explores latest discoveries in immunology and molecular medicine ---- PAS002 is a proprietary DNA vaccine construct encoding GlialCAM --

MIAMI BEACH, Fla., Aug. 18, 2022 (GLOBE NEWSWIRE) -- Pasithea Therapeutics Corp. (Nasdaq: KTTA) (Pasithea or the Company), a biotechnology company focused on the research and discovery of new and effective treatments for psychiatric and neurological disorders, today announced it will present the preclinical proof of concept study results of its tolerizing vaccine program in multiple sclerosis (MS) on August 30th at the international conference From Laboratory to Clinic: Medicine after COVID held at Trinity College, Oxford University, United Kingdom.

From Laboratory to Clinicis an annual translational research conference established in 1984 that brings together basic scientists, clinicians, and industry researchers to explore how the latest discoveries in immunology and molecular medicine can be applied to improve clinical medicine. During the Symposium, Pasitheas Chairman, National Academy of Sciences Professor Lawrence Steinman, will be giving the opening keynote lecture. Other speakers will include Dr. Carola Vinuesa, Professor at the Francis Crick Institute in London; Dr. Gali Alter, Professor of medicine at Harvard Medical School; Dr. Jeffrey Ravetch, Professor and head of the Laboratory of Molecular Genetics and Immunology at the Rockefeller University and Dr. Anne Schaefer, Vice-chair of Neuroscience at the Icahn School of Medicine at Mount Sinai.

We look forward to presenting our data at this important international conference alongside other world recognized leading authorities in immunology and immunotherapy. The study results support the Companys commitment to the program and move us further along our path to uncover new and effective treatments for neurological disorders, said Dr. Tiago Reis Marques, Chief Executive Officer of Pasithea.

Conference details.

About Pasithea Therapeutics Corp.

Pasithea Therapeutics Corporation is a U.S. biotechnology company focused on the research and discovery of new and effective treatments for psychiatric and neurological disorders. With an experienced team of experts in the fields of neuroscience and psychopharmacology, Pasithea is developing new molecular entities for the treatment of psychiatric and neurological disorders. Pasithea is also focused on addressing the needs of patients currently suffering with mental illness by providing access to IV ketamine infusions both in clinics and in-home settings.

Forward Looking Statements

This press release contains statements that constitute forward-looking statements. Forward-looking statements are subject to numerous conditions, many of which are beyond the control of the Company. While the Company believes these forward-looking statements are reasonable, undue reliance should not be placed on any such forward-looking statements, which are based on information available to the Company on the date of this release. These forward-looking statements are based upon current estimates and assumptions and are subject to various risks and uncertainties, including, without limitation, those set forth in the Companys filings with the SEC. Thus, actual results could be materially different. The Company undertakes no obligation to update these statements whether as a result of new information, future events or otherwise, after the date of this release, except as required by law.

Pasithea Therapeutics Corp. Company ContactDr. Tiago Reis MarquesChief Executive OfficerE: tiago@pasithea.com

Pasithea Therapeutics Corp. Investor RelationsLisa M. WilsonIn-Site Communications, Inc.T: 212-452-2793E: lwilson@insitecony.com

Read the original:
Pasithea Therapeutics to Present Results of Tolerizing Vaccine Program at Prestigious International Immunotherapy Conference - GlobeNewswire

In a series of articles published in Nature Genetics, researchers used data from the SPARK (Simons ... [+] Powering Autism Research) to show differences in genetic influences among people all along the autism spectrum.

In a series of articles published in Nature Genetics, researchers used data from the SPARK (Simons Powering Autism Research) to show differences in genetic influences among people all along the autism spectrum.

Autism is a spectrum and includes individuals with profound autism who often have cognitive differences or epilepsy, as well as talented and exceptional individuals in specific areas. In addition, we are now appreciating that the genetic contributions to different phenotypes vary in terms of the genes involved; when those genes are activated during brain development; and how common some of the genetic variants are in the population, said Wendy Chung, M.D., Ph.D., a board-certified clinical and molecular geneticist with Columbia University's Department of Pediatrics.

One study, Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate effect genes, was published in Nature Genetics today, on August 18, 2022. Researchers analyzed the DNA of almost 43,000 people with autism, including 35,000 participants from the SPARK autism research study.

To better understand the full spectrum of autism genes, the researchers analyzed 19,843 participants ... [+] with autism, along with one or both of their biological parents, and found that roughly 20% of people with autism have de novo genetic variants that affect the function of the associated gene. Nearly 70% of this genetic contribution can be attributed to known autism or neurodevelopmental disorder genes. However, this means that although known autism-associated genes are responsible for most de novo variants, others are still to be identified.

It is widely known that autism is heritable. Still, previous studies have primarily identified autism genes with de novo variants (DNV), which occur spontaneously in germ cells before conception that are not inherited. These variants are also implicated in other neurodevelopmental disorders (NDDs). Most genetic variants of this type associated with autism have profound effects on the brain in those individuals when they occur. However, according to a study by NCBI, only 20% of individuals with autism have this type of genetic variant.

For many years, we have known from twin studies that there must be inherited genetic variants that lead to autism, but we have not been able to identify individual genes until now systematically, said lead author Pamela Feliciano, Ph.D. SPARKs scientific director. We have identified a group of genes associated with autism that can include inherited variants, which begin to explain a different part of the autism spectrum.

To better understand the full spectrum of autism genes, the researchers analyzed 19,843 participants with autism, along with one or both of their biological parents, and found that roughly 20% of people with autism have de novo genetic variants that affect the function of the associated gene. Nearly 70% of this genetic contribution can be attributed to known autism or neurodevelopmental disorder genes. However, this means that although known autism-associated genes are responsible for most de novo variants, others are still to be identified.

The researchers added 22,764 individuals with autism and 236,000 people without autism from the general population. This meta-analysis identified 60 autism genes whose contribution to autism is largely driven by the rare inherited loss of function (LOF) variants transmitted by parents who do not have cognitive differences or autism. Of these genes, five have not previously been implicated in neurodevelopmental conditions.

Individuals with autism who carry inherited variants in these moderate effect genes are less likely to have cognitive differences than people with autism who take LOF variants in well-established autism genes, such as CHD8 and SCN2A.

Most parents who passed down these genetic variants in our study do not have cognitive differences or autism, but we know that these genes are associated with autism because we find that children with autism more frequently inherit these variants. Therefore, we hypothesized that people with autism with these inherited genetic variants are less likely to have seizures and cognitive differences than those with de novo genetic variants. So far, our data strongly support[s] this hypothesis, said Dr. Feliciano.

A second study also published in Nature Genetics, Rare coding variation provides insight into the ... [+] genetic architecture and phenotypic context of autism, led by a team of investigators supported by the Simons Foundation Autism Research Initiative (SFARI) and the Autism Sequencing Consortium (ASC), performed analyses on genetic data from 20,627 people with autism, with new genetic data derived primarily from SPARK.

A second study also published in Nature Genetics states, Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. This study was led by a team of investigators supported by the Simons Foundation Autism Research Initiative (SFARI) and the Autism Sequencing Consortium (ASC). They performed analyses on genetic data from 20,627 people with autism, with new genetic data derived primarily from SPARK.

The team developed new methods to discover gains and losses of DNA, or copy number variants (CNVs), from exome sequencing and strategies to integrate data from these CNVs with other classes of de novo and rare inherited variants identified 72 genes associated with autism. Most evidence came from de novo variants, with smaller but significant contributions from rare inherited variants. The researchers then combined data from the autism studies with a large dataset of 31,000 families in which the child was diagnosed with developmental delay or other neurodevelopmental conditions. These analyses discovered 373 genes associated with these diverse neurodevelopmental outcomes, allowing the team to identify genes more associated with autism than other neurodevelopmental conditions and vice versa. In addition, they found that genes associated predominantly with developmental delay tend to be important in early neuronal development. In contrast, autism genes tend to play a role in more mature neurons.

The studys senior author, Michael Talkowski, Ph.D., director, Center for Genomic Medicine at Massachusetts General Hospital and member of the Broad Institute, noted that the scale of the data collections from SPARK, the ASC and other sources as well as the newly developed methods has allowed us to explore the relative contribution of the diverse classes of genetic variants that contribute to a continuum of neurodevelopmental variability across these datasets. These analyses suggested that most genes identified play a role very early in brain development. However, the genes with higher mutation rates in autism displayed slightly greater enrichment in more mature excitatory neurons.

Finally, two other studies (Antaki et al., 2022, Warrier et al., 2022) appearing in a recent issue of Nature Genetics analyzed the SPARK datasets. These two studies used the ASC and SPARK whole genomes, exomes, and single nucleotide polymorphism (SNP) genotypes to determine the contributions of multiple genetic factors to ASD, including de novo mutations, inherited rare variants, common polygenic variants, and sex. The study by Antaki et al. found that different forms of genetic contributors are associated with various ASD symptoms and that the wide variety of clinical presentations of individuals across the autism spectrum can be explained by the combinations of hereditary factors they carry. Antaki also found that genetic contributors to ASD influence behavior in all family members, including parents and typically developing siblings.

Jonathan Sebat, Ph.D., professor of psychiatry and cellular and molecular medicine at UCSD and senior author on Antaki et al., said, The spectrum of symptom severity in ASD is attributable to a spectrum of genetic influence. People who meet diagnostic criteria for autism may have the most genetic factors for autism, but these types of factors are present to varying degrees in all of us. So we are all somewhere on a continuum.

Together, the four papers provide new insights into the genetic basis of autism, a condition so ... [+] varied in its characteristics that it has been difficult to understand its neurobiological basis. Although researchers have yet to identify the fuller picture of brain molecules and pathways that underlie autism, these new studies will lead the way toward an improved understanding of this complicated and common condition.

Together, the four papers provide new insights into the genetic basis of autism, a condition so varied in its characteristics that it has been difficult to understand its neurobiological basis. Although researchers have yet to identify the fuller picture of brain molecules and pathways that underlie autism, these new studies will lead the way toward an improved understanding of this complicated and common condition.

There are so many new genes and insights into neurodevelopment to be pursued from these findings.

Read more:
New Study Identifies How A Group Of Genes Are Linked To Behavioral Conditions - Forbes

A variant typical of the Finnish population that protects against heart diseases was identified in the FinnGen genomic study coordinated by the University of Helsinki. The risk of developing heart diseases is roughly one-fifth lower in carriers of the variant compared to the population on average.

The protective effect of the newly discovered variant against coronary heart disease is likely to be caused by the below-average arterial stiffness of variant carriers.

The variant in question is located in the MFGE8 gene that produces a protein called lactadherin, which is known to affect the process of arterial stiffening. The results indicate that the variant inhibits the function of the lactadherin protein. However, further studies are needed to ascertain this.

The findings, published in the Communications Biology journal on 17 August 2022, are based on a FinnGen dataset comprising more than 260,000 Finnish biobank sample donors.

Discovery made possible by the FinnGen research dataset

Cardiovascular diseases remain the most common cause of death worldwide. In Finland too, one-third of all deaths are caused by cardiovascular diseases.

In the recently published study, genomic variation between individuals with coronary heart disease and other study subjects was compared in the FinnGen dataset. The results exposed 38 genetic loci associated with a risk of coronary heart disease, of which four, including the MFGE8 gene, were previously unknown.

Hundreds of genetic factors affecting the risk of developing cardiovascular diseases have already been identified. However, the number of known variants that reduce the risk of disease and directly indicate the active gene, like the MFGE8 variant, is relatively low,says Doctoral Researcher Sanni Ruotsalainen from the University of Helsinkis Institute for Molecular Medicine Finland, who carried out the study.

Identifying the link between MFGE8 and coronary heart disease is a good example of the special benefits the Finnish population offers to genetic research. The variant in question is 70 times more common in Finland than in the overall European population, which is why it has not been observed in previous similar gene studies elsewhere. The variant is found in roughly 5.5% of Finns, with slightly higher frequency in eastern Finland than in western parts of the country.

A protective effect against coronary heart disease opens up perspectives in drug development

The variant was also found to have an effect on the age of onset of coronary heart disease. Carriers of the protective variant suffered a myocardial infarction or were diagnosed with coronary heart disease on average 18 months later than the rest of the population.

In terms of developing new drug therapies, variants that reduce the risk of developing diseases are particularly interesting, says the studys principal investigator, Professor Samuli Ripatti from the University of Helsinki.

For example, PCSK9 inhibitors, the next-generation cholesterol drugs already in use, have been developed on the basis of a similar observation. This new finding introduces a new mechanism of action alongside cholesterol that protects against cardiovascular diseases.

Our findings also demonstrated that the MFGE8 variant did not increase the risk of any other disease. Therefore, a drug molecule mimicking the functioning of the gene could make it possible to develop entirely novel therapies for the prevention of cardiovascular diseases, Ripatti notes.

Communications Biology

Cells

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

Original post:
New gene variant that protects against coronary heart disease uncovered - EurekAlert