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Association for Molecular Pathology Hosted a Congressional Briefing to Urge Lawmakers to Consider the VALID Act of 2021 Separately from the Medical…

Posted: April 6, 2022 at 2:09 am

ROCKVILLE, Md. Apr. 5, 2022 The Association for Molecular Pathology (AMP), the premier global, molecular diagnostic professional society, called on Congress to allow for a thorough evaluation of the Verifying Accurate Leading-edge IVCT Development (VALID) Act of 2021, or any other legislation to change regulations for laboratory developed testing procedures (LDPs). Representatives from AMP, the American Association for Clinical Chemistry (AACC), the American College of Medical Genetics and Genomics (ACMG), and the Association of Pathology Chairs (APC) hosted a congressional briefing yesterday to educate lawmakers about how diagnostic tests are currently regulated and the substantial impact the VALID Act would have on clinical testing laboratories, healthcare providers, and patients throughout the U.S.

The VALID Act is a complex bill proposing dramatic modifications to current oversight mechanisms and a wide range of stakeholders have expressed significant concerns with the current draft. In February, AMP joined a number of other organizations asking that Congress consider the VALID Act separately from the must-pass Medical Device User Fee Agreement (MDUFA V) legislative process. To allow for thorough discussions and appropriate stakeholder engagement, it is important that this legislation goes through regular order with its own independent hearing, mark-up, and scheduled votes. More time and diverse stakeholder agreement are needed to ensure the policy is sound and in the best interest of patients and public health.

Congress needs to consider the lessons learned during the COVID-19 pandemic about how over burdensome and unnecessary regulation of laboratory testing affects testing capacity within the U.S. In February 2020, the U.S. declared a public health emergency and in turn, the U.S. Food and Drug Administration (FDA) began requiring emergency use authorization of all countermeasures used for clinical care. Subsequently, the FDA asserted authority to require regulatory review of COVID-19 tests before they could be offered to patients, halting the development and deployment of these tests, and leaving laboratory professionals paralyzed and unable to provide the care they are trained to do. As a result, this country went weeks without access to these critical public health tools while COVID-19 spread undetected throughout our communities.

AMP remains committed to working with and educating members of Congress and other key stakeholders to create an appropriate LDP oversight framework that modernizes the current regulatory system, demonstrates quality, enhances transparency, and fosters the rapid innovation and promise of new diagnostic technologies and tests, said Mary Steele Williams, AMP Executive Director. The current COVID-19 public health emergency highlights the critical need for laboratories to be allowed to respond quickly, and to continue advancing and offering the tens of thousands of high-quality, validated LDPs that benefit patients each and every day.

ABOUT AMP

The Association for Molecular Pathology (AMP) was founded in 1995 to provide structure and leadership to the emerging field of molecular diagnostics. AMP's 2,500+ members practice various disciplines of molecular diagnostics, including bioinformatics, infectious diseases, inherited conditions, and oncology. Our members are pathologists, clinical laboratory directors, basic and translational scientists, technologists, and trainees that practice in a variety of settings, including academic and community medical centers, government, and industry. Through the efforts of its Board of Directors, Committees, Working Groups, and Members, AMP is the primary resource for expertise, education, and collaboration in one of the fastest growing fields in healthcare. AMP members influence policy and regulation on the national and international levels, ultimately serving to advance innovation in the field and protect patient access to high-quality, appropriate testing. For more information, visit http://www.amp.org and follow AMP on Twitter: @AMPath.

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Association for Molecular Pathology Hosted a Congressional Briefing to Urge Lawmakers to Consider the VALID Act of 2021 Separately from the Medical...

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Mainz Biomed Completes Successful Pre-Submission Process with the U.S FDA for ColoAlert’s … – KULR-TV

Posted: April 6, 2022 at 2:09 am

Multi-Center Study on Track to Commence in Late 2022Initiated Reimbursement Process with The Centers for Medicare and Medicaid Services

BERKELEY, Calif. and MAINZ, Germany, March 31, 2022 (GLOBE NEWSWIRE) -- Mainz Biomed N.V. (NASDAQ:MYNZ) (Mainz Biomed or the Company), a molecular genetics diagnostic company specializing in the early detection of cancer, announced today that it has received supportive feedback from the U.S. Food & Drug Administration (FDA) on the Companys pre-submission package profiling the potential pivotal clinical trial design for ColoAlert, its highly efficacious, and easy-to-use detection test for colorectal cancer (CRC). As Mainz prepares to launch ColoAlerts pivotal clinical trial, the Company is also pleased to announce the formal commencement of its reimbursement process for ColoAlert by scheduling an initial meeting with The Centers for Medicare and Medicaid Services (CMS) in April 2022. The CMS is a federal agency in the U.S. Department of Health and Human Services (HHS) that administers the Medicare program and works in partnership with state governments to administer Medicaid, the Children's Health Insurance Program (CHIP), and health insurance portability standards.

We are encouraged by the FDAs supportive commentary on our proposed pivotal clinical trial design for ColoAlert and will now work with our clinical team to finalize the studys protocols and make the necessary preparations to ensure premier trial execution, commented Guido Baechler, Chief Executive Officer of Mainz Biomed. In concert with final pivotal clinical trial preparations, we are excited to pursue reimbursement for ColoAlert and are looking forward to commencing formal discussions with the CMS.

An integral part of Mainzs clinical execution and medical reimbursement strategies is its partnership with Precision for Medicine, a leading global Clinical Research Organization. Precision for Medicine will continue to work with Mainzs management team to implement the U.S. focused regulatory and market access strategy for ColoAlert by finalizing ColoAlerts clinical development plan to ensure the trial design is cost-effective, robust, and efficient. The Company is planning to integrate CMS guidelines into ColoAlerts pivotal trial design, utilizing currently marketed CRC screening tests as benchmarks to provide the test with an optimal product profile for regulatory approval and success in the marketplace.

Mainz is marketing ColoAlert across Europe through its unique business model of partnering with third-party laboratories for test kit processing versus the traditional methodology of operating a single facility. The Company is also running ColoFuture, an international clinical study evaluating the potential to integrate a portfolio of in-licensed novel mRNA biomarkers into the product which have previously demonstrated the unique ability to identify curable precancerous colonic polyps, as well as treatable early-stage CRC (Herring et al 2021). ColoFuture is evaluating the effectiveness of these biomarkers to enhance ColoAlerts technical profile to extend its capability to include the identification of advanced adenomas (AA), a type of pre-cancerous polyp often attributed to CRC, while increasing ColoAlerts rates of diagnostic sensitivity and specificity. The results of the study will ultimately impact the configuration of ColoAlert prior to commencing the U.S. pivotal study which is on track to begin in late 2022.

About ColoAlert ColoAlert detects colorectal cancer (CRC) via a simple-to-administer test with a sensitivity and specificity nearly as high as the invasive colonoscopy*. The test utilizes proprietary methods to analyze cell DNA for specific tumor markers combined with the fecal immunochemical test (FIT) and is designed to detect tumor DNA and CRC cases in their earliest stages. The product is CE-IVD marked (complying with EU safety, health and environmental requirements) and is transitioning to compliance with IVDR. The product is commercially available in a selection of countries in the European Union. Mainz Biomed currently distributes ColoAlert through a number of clinical affiliates. Once approved in the U.S., the Companys commercial strategy is to establish scalable distribution through a collaborative partner program with regional and national laboratory service providers across the country. * Dollinger MM et al. (2018)

About the ColoFuture Study The ColoFuture study is an international clinical trial evaluating over 600 patients (women or men) in the age range of 40-85 at two participating centers in Norway and two in Germany. Subjects are invited to potentially participate in the trial when referred for a colonoscopy (pre-inclusion) to screen for CRC or an overall diagnostic analysis. Those who agree to provide a stool sample in advance of the procedure will be eligible for participation. Inclusion criteria are based on one of the following diagnostic outcomes: CRC, advanced precancerous lesions in colon, or normal colon. Then, each patient outcome will compare the observations recorded from the colonoscopy to the results from the ColoAlert test that incorporates the novel biomarkers. The primary endpoints of the study are to determine sensitivity and specificity rates for CRC with ColoAlert plus the new mRNA biomarkers. There are multiple secondary endpoints for evaluating the modified ColoAlert test, including, determining sensitivity for AA lesions in colon, specificity for advanced precancerous lesions in colon and, specificity for no colorectal finding (normal colon). The Company is expecting to complete enrollment during the second half of 2022 and is targeting reporting study results in early 2023.

About Colorectal Cancer Colorectal cancer (CRC) is the second most lethal cancer in the U.S. and Europe, but also the most preventable with early detection providing survival rates above 90%. Annual testing costs per patient are minimal, especially when compared to late-stage treatments of CRC which cost patients an average of $38,469 per year. The American Cancer Society estimates that in 2021 there will be approximately 149,500 new cases of colon and rectal cancer in the U.S. with 52,980 resulting in death. Recent FDA decisions suggest that screening with stool DNA tests such as ColoAlert in the US should be conducted once every three years starting at age 45. Currently there are 112 million Americans aged 50+, a total that is expected to increase to 157 million within 10 years. Appropriately testing these US-based 50+ populations every three years as prescribed equates to a US market opportunity of approximately $3.7 Billion per year.

About Mainz Biomed N.V. Mainz Biomed develops market-ready molecular genetic diagnostic solutions for life-threatening conditions. The Companys flagship product is ColoAlert, an accurate, non-invasive, and easy-to-use early detection diagnostic test for colorectal cancer. ColoAlert is currently marketed across Europe with FDA clinical study and submission process intended to be launched in the first half of 2022 for U.S. regulatory approval. Mainz Biomeds product candidate portfolio includes PancAlert, an early-stage pancreatic cancer screening test based on Real-Time Polymerase Chain Reaction-based (PCR) multiplex detection of molecular-genetic biomarkers in stool samples, and the GenoStick technology, a platform being developed to detect pathogens on a molecular genetic basis.

For more information, please visit http://www.mainzbiomed.com

For media enquiries, please contact press@mainzbiomed.com

For investor enquiries, please contact ir@mainzbiomed.com

Forward-Looking Statements Certain statements made in this press release are forward-looking statements within the meaning of the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. Forward-looking statements may be identified by the use of words such as anticipate, believe, expect, estimate, plan, outlook, and project and other similar expressions that predict or indicate future events or trends or that are not statements of historical matters. These forward-looking statements reflect the current analysis of existing information and are subject to various risks and uncertainties. As a result, caution must be exercised in relying on forward-looking statements. Due to known and unknown risks, actual results may differ materially from the Companys expectations or projections. The following factors, among others, could cause actual results to differ materially from those described in these forward-looking statements: (i) the failure to meet projected development and related targets; (ii) changes in applicable laws or regulations; (iii) the effect of the COVID-19 pandemic on the Company and its current or intended markets; and (iv) other risks and uncertainties described herein, as well as those risks and uncertainties discussed from time to time in other reports and other public filings with the Securities and Exchange Commission (the SEC) by the Company. Additional information concerning these and other factors that may impact the Companys expectations and projections can be found in its initial filings with the SEC, including its registration statement on Form F-1 filed on January 21, 2022. The Companys SEC filings are available publicly on the SECs website at http://www.sec.gov. Any forward-looking statement made by us in this press release is based only on information currently available to Mainz Biomed and speaks only as of the date on which it is made. Mainz Biomed undertakes no obligation to publicly update any forward-looking statement, whether written or oral, that may be made from time to time, whether as a result of new information, future developments or otherwise, except as required by law.

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Mainz Biomed Completes Successful Pre-Submission Process with the U.S FDA for ColoAlert's ... - KULR-TV

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New insights into the genetic etiology of Alzheimer’s disease and related dementias – Nature.com

Posted: April 6, 2022 at 2:07 am

Universit de Lille, INSERM, CHU Lille, Institut Pasteur Lille, U1167-RID-AGE, Facteurs de risque et dterminants molculaires des maladies lies au vieillissement, Lille, France

Cline Bellenguez,Benjamin Grenier-Boley,Vincent Damotte,Marcos R. Costa,Julien Chapuis,R. Pineda-Snchez,Nathalie Fievet,Hieab Adams,Philippe Amouyel&Jean-Charles Lambert

Complex Genetics of Alzheimers Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium

Fahri Kkali,Christine Van Broeckhoven,Jasper Van Dongen&Kristel Sleegers

Laboratory of Neurogenetics, Institute Born - Bunge, Antwerp, Belgium

Fahri Kkali,Christine Van Broeckhoven,Jasper Van Dongen&Kristel Sleegers

Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium

Fahri Kkali,Jasper Van Dongen&Kristel Sleegers

Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands

Iris E. Jansen,Sven J. van der Lee,Henne Holstege,Marc Hulsman,Yolande A. L. Pijnenburg,Philip Scheltens,Niccolo Tes&Wiesje M. van der Flier

Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije University, Amsterdam, the Netherlands

Iris E. Jansen,Danielle Posthuma&Tim Lu

Department of Neurodegenerative Diseases and Geriatric Psychiatry, University Hospital Bonn, Bonn, Germany

Luca Kleineidam,Victor Andrade,Michael T. Heneka,Wolfgang Maier,Anja Schneider,Michael Wagner,Kayenat Parveen,Frank Jessen&Alfredo Ramirez

Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, University of Cologne, Medical Faculty, Cologne, Germany

Luca Kleineidam,Rafael Campos-Martin,Victor Andrade,Maria Carolina Dalmasso,Klaus Fliebach&Alfredo Ramirez

German Center for Neurodegenerative Diseases (DZNE Bonn), Bonn, Germany

Luca Kleineidam,Klaus Fliebach,Michael T. Heneka,Wolfgang Maier,Matthias Schmid,Anja Schneider,Annika Spottke,Michael Wagner,Henning Boecker,Andr Lacour,Christine Herold,Tim Becker,Ying Wu,Yanbing Wang,Frank Jessen&Alfredo Ramirez

Research Center and Memory Clinic Fundaci ACE, Institut Catal de Neurocincies Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain

Sonia Moreno-Grau,Itziar de Rojas,Pablo Garcia-Gonzalez,Carla Abdelnour,Emilio Alarcn-Martn,Montserrat Alegret,Merc Boada,Miguel Calero,Ana Espinosa,Pablo Garca-Gonzlez,Isabel Hernndez,Marta Marqui,Laura Montrreal,Adelina Orellana,Gemma Ortega,Alba Prez-Cordn,Raquel Puerta,Natalia Roberto,Maite Rosende-Roca,ngela Sanabria,Oscar Sotolongo-Grau,Juan Pablo Tartan,Llus Trraga,Sergi Valero,Ana Maulen,Ana Pancho,Anna Gailhajenet,Asuncin Lafuente,Elvira Martn,Esther Pelej,Liliana Vargas,Mar Buendia,Marina Guitart,Mariona Moreno,Marta Ibarria,Nuria Aguilera,Pilar Caabate,Silvia Preckler,Susana Diego,Nuria Aguilera,Amanda Cano,Pilar Caabate,Ral Nuez-Llaves,Cludia Oliv,Ester Pelej&Agustn Ruiz

CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain

Sonia Moreno-Grau,Itziar de Rojas,Pablo Garcia-Gonzalez,Carla Abdelnour,Daniel Alcolea,Montserrat Alegret,Rafael Blesa,Merc Boada,Dolores Buiza-Rueda,Laura Cervera-Carles,Ana Espinosa,Juan Fortea,Mara J. Bullido,Ana Frank-Garca,Jose Maria Garca-Alberca,Isabel Hernndez,Carmen Lage,Alberto Lle,Adolfo Lopez de Munain,Marta Marqui,Angel Martn Montes,Miguel Medina,Pablo Mir,Fermin Moreno,Adelina Orellana,Gemma Ortega,Jordi Prez-Tur,Alberto Rbano,Eloy Rodriguez-Rodriguez,Maite Rosende-Roca,ngela Sanabria,Pascual Snchez Juan,Llus Trraga,Sergi Valero,Miren Zulaica,Ad Adarmes-Gmez,D. Macias-Garca,F. Carrillo,Isabel Sastre Merln,L. Garrote-Espina,M. Carrion-Claro,Ma Labrador,Mt Perin,P. Gmez-Garre,R. Escuela,R. Vigo-Ortega,S. Jess,Nuria Aguilera,Pilar Caabate,Astrid D. Adarmes-Gmez,Ftima Carrillo,Mario Carrin-Claro,Roco Escuela,Lorena Garrote-Espina,Pilar Gmez-Garre,Silvia Jess,Miguel Angel Labrador Espinosa,Sara Lpez-Garca,Daniel Macias-Garca,Mara Teresa Perin-Tocino,Roco Pineda-Snchez,Isabel Sastre,Rosario Vigo-Ortega,Jordi Clarimon&Agustn Ruiz

Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands

Najaf Amin,Amber Yaqub,Ivana Prokic,Shahzad Ahmad,Hata Comic,Tavia Evans,Maria Knol,William Kremen,Gena Roshchupkin,Dina Vojinovic,Mohsen Ghanbari,M. Arfan Ikram&Cornelia M. van Duijn

Nuffield Department of Population Health, Oxford University, Oxford, UK

Najaf Amin&Cornelia M. van Duijn

Department of Biostatistics, Epidemiology, and Informatics, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA

Adam C. Naj,Jin Sha,Alessandra Chesi,Beth A. Dombroski,Jacob Haut,Pavel P. Kuksa,Chien-Yueh Lee,Edward B. Lee,Yuk Yee Leung,Mingyao Li,John Malamon,Liming Qu,John Q. Trojanowski,Otto Valladares&Vivianna M. Van Deerlin

Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA

Adam C. Naj,Valentina Escott-Price,Pavel P. Kuksa,Chien-Yueh Lee,Otto Valladares,Li-San Wang,Yi Zhao&Gerard D. Schellenberg

MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK

Peter A. Holmans,Catherine Bresner,Janet Harwood,Lauren Luckcuck,Rachel Marshall,Amy Williams,Charlene Thomas,Chloe Davies,William Nash,Kimberley Dowzell,Atahualpa Castillo Morales,Mateus Bernardo-Harrington,Julie Williams&Rebecca Sims

CEA, Centre National de Recherche en Gnomique Humaine, Universit Paris-Saclay, Evry, France

Anne Boland,Cline Besse,Delphine Daian,Bertrand Fin,Robert Olaso&Jean-Franois Deleuze

Section Genomics of Neurodegenerative Diseases and Aging, Department of Human Genetics Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands

Sven J. van der Lee,Henne Holstege,Marc Hulsman,Yiyi Ma&Niccolo Tes

Brain Institute, Federal University of Rio Grande do Norte, Natal, Brazil

Marcos R. Costa&Mikko Hiltunen

Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland

Teemu Kuulasmaa,Alexa Beiser,Anita DeStefano,Kathryn L. Lunetta,Gina Peloso,Ruiqi Wang,Neil W. Kowall,Ann C. McKee,Jesse Mez,Robert A. Stern&Lindsay A. Farrer

Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA

Qiong Yang,Anita DeStefano,Lena Kilander,Malin Lwemark,Claudia L. Satizabal,Ruiqi Wang,Adrienne L. Cupples,Jose Dupuis,Shuo Li,Xuan Liu&Sudha Seshadri

Framingham Heart Study, Framingham, MA, USA

Qiong Yang,Oscar Lopez&Bruce M. Psaty

Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA

Joshua C. Bis&Alison E. Fohner

LACDR, Leiden, the Netherlands

Shahzad Ahmad

Department of Public Health and Carins Sciences/Geriatrics, Uppsala University, Uppsala, Sweden

Vilmantas Giedraitis&Martin Ingelsson

Centre of Age-Related Medicine, Stavanger University Hospital, Stavanger, Norway

Dag Aarsland

Institute of Psychiatry, Psychology & Neuroscience, London, UK

Dag Aarsland

Department of Surgery, Biochemistry and Molecular Biology, School of Medicine, University of Mlaga, Mlaga, Spain

Emilio Alarcn-Martn

Department of Neurology, II B Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autnoma de Barcelona, Barcelona, Spain

Daniel Alcolea,Rafael Blesa,Laura Cervera-Carles,Juan Fortea,Alberto Lle,Martin Rossor&Jordi Clarimon

Fundaci Docncia i Recerca MtuaTerrassa and Movement Disorders Unit, Department of Neurology, University Hospital MtuaTerrassa, Terrassa, Spain

Ignacio Alvarez,Mnica Diez-Fairen&Pau Pastor

Memory Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Spain

Ignacio Alvarez,Mnica Diez-Fairen&Pau Pastor

Laboratorio de Gentica, Hospital Universitario Central de Asturias, Oviedo, Spain

Victoria lvarez&Irene Rosas Allende

Servicio de Neurologa, Hospital Universitario Central de Asturias- Oviedo and Instituto de Investigacin Biosanitaria del Principado de Asturias, Oviedo, Spain

Victoria lvarez,Carmen Martnez Rodrguez,Manuel Menndez-Gonzlez&Irene Rosas Allende

Centre for Healthy Brain Ageing, School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia

Nicola J. Armstrong,Henry Brodaty,Anbupalam Thalamuthu,Perminder Sachdev&Karen Mather

First Department of Neurology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece

Anthoula Tsolaki,Tegos Thomas,Anna Anastasiou&Magda Tsolaki

Alzheimer Hellas, Thessaloniki, Greece

Anthoula Tsolaki,Tegos Thomas&Magda Tsolaki

Unidad de Demencias, Hospital Clnico Universitario Virgen de la Arrixaca, Murcia, Spain

Carmen Antnez,Martirio Antequera,Agustina Legaz,Juan Marn-Muoz,Begoa Martnez,Victoriana Martnez,Maria Pilar Vicente&Liliana Vivancos

School of Medicine and Surgery, University of Milano-Bicocca, Milano, Italy

Ildebrando Appollonio,Elisa Conti,Lucio Tremolizzo,Carlo Ferrarese,Simona Andreoni,Gessica Sala&Chiara Paola Zoia

Neurology Unit, San Gerardo Hospital, Monza, Italy

Ildebrando Appollonio,Lucio Tremolizzo&Carlo Ferrarese

Fondazione IRCCS CaGranda, Ospedale Policlinico, Milan, Italy

Marina Arcaro,Daniela Galimberti&Elio Scarpini

Department of Laboratory Diagnostics, III Laboratory of Analysis, Brescia Hospital, Brescia, Italy

Silvana Archetti

Unitat Trastorns Cognitius, Hospital Universitari Santa Maria de Lleida, Lleida, Spain

Alfonso Arias Pastor,Raquel Huerto Vilas&Gerard Piol-Ripoll

Institut de Recerca Biomedica de Lleida (IRBLLeida), Lleida, Spain

Alfonso Arias Pastor,Raquel Huerto Vilas&Gerard Piol-Ripoll

Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

Beatrice Arosio

Geriatic Unit, Fondazione C Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy

Beatrice Arosio,Simona Ciccone,Paolo Dionigi Rossi&Evelyn Ferri

NORMENT Centre, University of Oslo, Oslo, Norway

Lavinia Athanasiu,Srdjan Djurovic,Alexey A. Shadrin,Shahram Bahrami&Ole A. Andreassen

EA 4468, Universit de Paris, APHP, Hpital Broca, Paris, France

Henri Bailly,Emmanuelle Duron,Olivier Hanon&Jean-Sbastien Vidal

Laboratory of Neuropsychiatry, Department of Clinical and Behavioral Neurology, IRCCS Santa Lucia Foundation, Rome, Italy

Nerisa Banaj,Gianfranco Spalletta,Francesca Assogna,Fabrizio Piras,Federica Piras,Valentina Ciullo,Jacob Shofany&Yi Zhao

Servei de Neurologia, Hospital Universitari i Politcnic La Fe, Valencia, Spain

Miquel Baquero&Juan Andrs Burguera

Taub Institute on Alzheimers Disease and the Aging Brain, Department of Neurology, Columbia University, New York, NY, USA

Sandra Barral,Richard Mayeux,Nikolaos Scarmeas,Giuseppe Tosto,Badri N. Vardarajan,Sandra Barral,Lawrence S. Honig,Scott Small,Jean-Paul Vonsattel&Jennifer Williamson

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New insights into the genetic etiology of Alzheimer's disease and related dementias - Nature.com

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General Conference: Two sisters used genealogy, genetics to find their risk of breast cancer – KSL NewsRadio

Posted: April 6, 2022 at 2:07 am

SALT LAKE CITY Theres a 13% chance for any woman to develop breast cancer in the course of their lifetime. But for 24-year-old twins, Emma and Gabriella Friel. theres a much higher chance. An 80% change.

The sisters, from Utah, live together, hike together, snowboard together, travel together and so much more. And recently, they underwent double mastectomies together on the same day, at the same hospital.

In early 2021, Emma, who works in the genetics field, set out to satisfy a nagging worry she had about her genealogy and genetics: Was her family history of breast cancer a sign that she had inherited a gene mutation that put her at a very high risk of developing the disease?

This BRCA gene runs in our family, said Emma. Our cousin had it and her mom, so our aunt had it. It was very off-handed. I got tested, I didnt think anything about it, I figured I would be negative and then it turned out I was positive.

Emmas test result foreshadowed Gabriellas.

I was hoping, by some chance, that I wouldnt have it, said Gabriella. I dont know, by the grace of God or something, but I assumed I did.

The results were back within a month. They both had the BRCA1 gene.And then they had a decision to make.

So, theres a 13% chance for women to get breast cancer in their life. For the Friel sisters, its six times that.

There is about an 85% chance of us developing breast cancer by the time we turn 70, 75, explained Emma. Its not super scientific where they can see, like this is your percentage by the age of 30. And this is your percentage by the age of 50. Its very broad. Theyre doing more research to try and pinpoint it. But science isnt there yet.

Emma decide she would undergo a double mastectomy to significantly cut her odds for developing the disease. Gabriella looked into other options.

Another option is I could get tested every six months for the rest of my life until someday I get breast cancer, said Gabriella. I wasnt keen on that option. It just seemed like a lot of anxiety, and a lot of time.

In February 2022, both admitted themselves to the same hospital, on the same day, to undergo double mastectomies.

Emma and Gabriellas mother, Sandra Garofalo was the first person Emma called after she got her test results.

I just, I immediately felt guilty, said Garofalo. I thought I should have tested myself long ago, like I, I just made a lot of excuses of why not to get tested, you know. I had lost my cousin. And I knew that she was positive. But you know, our parents are half-siblings. And they had breast cancer on the side of the family that was not blood-related to me. So I just always kind of thought, Oh, it must have come from that side of the family. I put it out of my head for a long time.

The irony is, that Garofalo is a nurse practitioner who works with cancer patients.

Heres Emma, the first one positive, and I immediately felt like this should not be on her, I should have done this first, she said. I want them to make the right decision, but I know that it needs to be theirs, and not mine.

She says she would be there to emotionally support them, but not make the decision for them.

Of course, I didnt want them to get it yet, Garofalo said. Theyre really active, and theyre having so much fun. I dont want to interrupt their lives with this mess and thinking about cancer. As I was struggling over that, I met a new patient, literally a week, after all of this kind of hit. And this girl walks in. Shes one year older than my twins. Shes this really dynamic young woman. And shes like the girl she likes to rock climb and snowboard and adventure and do all this stuff. And shes BRACA-1 positive, and she has triple-negative breast cancer, which is traditionally a harder cancer to treat and harder to cure. Ive been going through wrestling with this, that it was this way of saying this is what you need to do. Theyre doing the right thing. Theyre not too young to get surgery.

All the while, Garofalo got tested herself. She was positive for the gene, too.

So while her girls were weighing their options, Garofalo got her double mastectomy in the fall of 2021.

The BRCA-1 and BRCA-2 are genes that women normally have two copies of that help protect them from cancer. If one of the genes we inherit is defective, it puts the bodys ability to fight cancer at a disadvantage.

They are more at risk for getting breast, ovarian cancer, sometimes pancreas, melanoma, and men, of course, are more at risk for getting prostate cancer, said Huntsman Cancer Institutes Dr. Sarah Colonna.

Colonna wasnt involved in the Friel sisters diagnosis.

She recommends speaking to a genetic counselor before making the decision to test for gene mutations and says there are a couple of options: One is an FDA-approved at-home saliva test, and the other is to get tested at your doctors office.

Costs used to be several thousand dollars, its come down. Now its like a couple of hundred dollars.

She warns federal law makes it illegal for health insurance companies to base coverage on a persons DNA but things differ when it comes to life and disability insurance.

And though Colonna urges people to consider the insurance implication before testing themselves, she says that by undergoing double mastectomies Emma and Gabriella significantly dropped their risk of cancer.

Lets say Gabriellas risk was 70%, said. Colonna. A risk-reducing mastectomy would take it from 70% to 7%.

The FDA has approved an at-home test kit, and the genetic testing website 23andMe markets a saliva test, which costs about $200.

We test for the three mutations on the BRCA1 and BRCA2 genes that are some of the most common, the most well-studied and convey the largest risk. We do not test for all possible variants in the BRCA1 and BRCA2 genes, as more than 1,000 variants in these genes are known to increase cancer risk, a spokesperson responded to KSL NewsRadios inquiry.

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General Conference: Two sisters used genealogy, genetics to find their risk of breast cancer - KSL NewsRadio

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Genetic Testing for Parkinson’s Disease: What You Need to Know – Columbia University Irving Medical Center

Posted: April 6, 2022 at 2:07 am

Parkinsons disease is the second most common neurodegenerative condition after Alzheimers, with nearly one million Americans living with the disease and ten million people affected worldwide.

With genetic testing now available, people with Parkinsons and their families are increasingly turning to testing to learn more about their disease and if their children are at risk.

Which test to take and how to interpret the results, though, can be confusing. Getting genetic testing can be useful, but the information can be overwhelming or even misleading, says neurologist Roy Alcalay, MD, an expert in the treatment of Parkinsons at Columbia and NewYork-Presbyterian who also studies the genetics of the disease.

That why its best to couple any testing with genetic counseling. Getting genetic testing is pretty profound, because people receive a lot of potentially positive or negative information. Without a genetic counselor to prepare you and explain the results, I would advise against genetic testing, says Alcalay.

The genetics of Parkinsons disease is complex, and risk cannot be determined by looking at the presence or absence of a single gene.

Genetic testing for Parkinsons emerged in the 2000s after the identification of the first known disease-causing variants. Currently, researchers think about 90 genes may be contribute to Parkinsons disease.

But tests vary widely, complicating interpretation and counseling.

Clinical laboratories worldwide currently offer more than 500 unique clinical genetic tests for Parkinsons, with tests examining anywhere from five to 62 genes, according to a recent study by Alcalay, neurologistKaren Marder, MD, a Parkinson's expert at Columbia and NewYork-Presbyterian, and other colleagues. Many tests include genes whose connection to Parkinsons is still controversial among scientists.

This makes it very confusing both for people with Parkinsons and for providers, because if one company examines five genes and another examines 62, are they offering the same product? Is the result the same, and what do you do with it? Marder says.

The complex testing landscape for Parkinson's may be simplified in the future: Alcalay and Marder belong to a new Parkinsons Disease Gene Curation Expert Panel that is in the process of developing an expert consensus about the genes that cause Parkinsons and which should be included in genetic testing.

One way to access testing is to join the PDGENEration study, a flagship initiative of the Parkinsons Foundation, for which Alcalay is the lead investigator. Study participants are provided pre- and post-test counseling and genetic testing for mutations in the most common Parkinsons genes. The study is designed to help accelerate clinical trials of gene-specific therapies and improve patient care. Alcalay says about 3,500 people have already completed the study, which can accommodate 15,000 people.

Direct-to-consumer genetic testing is also available but may not involve a genetic counselor to prepare test-takers and interpret the results.

Before taking a genetic test, its important for counselors to help people imagine the worst-case scenario, so they can process how they might feel, says Marder.

A genetic counselor also explains the ambiguity associated with test results. Just because somebody has a genetic mutation associated with Parkinsons, that doesnt necessarily mean they will develop Parkinsons, Marder says. Factors such as diet and exercise could possibly postpone development of the disease.

Many people are eager to have genetic testing, including children of Parkinsons patients who want to know their risk. Marder and Alcalay know of several who started the testing process but chose not to receive results after meeting with the genetic counselor.

The family dynamics can be quite nuanced. Some parents with Parkinsons undergo testing, but then are faced with a decision about giving their children unpleasant news. Or a child who learns she did not inherit a parents Parkinsons gene may feel conflicted about sharing that with an affected family member, Marder adds.

Take your time making a decision about testing, because once you have that information, you cant take it back.

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Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals – Nature.com

Posted: April 6, 2022 at 2:07 am

Department of Economics, School of Business and Economics, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands

Aysu Okbay,Hyeokmoon Kweon&Philipp D. Koellinger

Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia

Yeda Wu,Julia Sidorenko,Jian Yang,Loic Yengo&Peter M. Visscher

National Bureau of Economic Research, Cambridge, MA, USA

Nancy Wang,Hariharan Jayashankar,Michael Bennett,Grant Goldman,Tamara Gjorgjieva,Steven F. Lehrer,David Cesarini&Daniel J. Benjamin

UCLA Anderson School of Management, Los Angeles, CA, USA

Seyed Moeen Nehzati,Chelsea Watson,Jonathan Jala,Daniel J. Benjamin&Alexander I. Young

23andMe, Inc., Sunnyvale, CA, USA

Yunxuan Jiang,Barry Hicks,Chao Tian,David A. Hinds,Michelle Agee,Babak Alipanahi,Adam Auton,Robert K. Bell,Katarzyna Bryc,Sarah L. Elson,Pierre Fontanillas,Nicholas A. Furlotte,Karen E. Huber,Aaron Kleinman,Nadia K. Litterman,Jennifer C. McCreight,Matthew H. McIntyre,Joanna L. Mountain,Carrie A. M. Northover,Steven J. Pitts,J. Fah Sathirapongsasuti,Olga V. Sazonova,Janie F. Shelton,Suyash Shringarpure,Joyce Y. Tung,Vladimir Vacic&Catherine H. Wilson

Department of Government, Uppsala University, Uppsala, Sweden

Rafael Ahlskog,Sven Oskarsson&Karl-Oskar Lindgren

Swedish Twin Registry, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden

Patrik K. E. Magnusson,Robert Karlsson,Paul Lichtenstein&Nancy L. Pedersen

MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK

Caroline Hayward,Jennifer E. Huffman,Jonathan Marten,Veronique Vitart,James F. Wilson&Alan F. Wright

Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK

Archie Campbell&David J. Porteous

Usher Institute, University of Edinburgh, Edinburgh, UK

Archie Campbell&David J. Porteous

Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK

David J. Porteous

Department of Sociology, Stanford University, Stanford, CA, USA

Jeremy Freese

McCourt School of Public Policy, Georgetown University, Washington, DC, USA

Pamela Herd

Department of Sociology, Princeton University, Princeton, NJ, USA

Dalton C. Conley&Dalton Conley

Robert M. La Follette School of Public Affairs, University of Wisconsin-Madison, Madison, WI, USA

Philipp D. Koellinger

Department of Economics, Stockholm School of Economics, Stockholm, Sweden

Magnus Johannesson

Department of Economics, Harvard University, Cambridge, MA, USA

Olga Rostapshova,David I. Laibson&David Laibson

Center for Translational Bioethics and Health Care Policy, Geisinger Health System, Danville, PA, USA

Michelle N. Meyer

Department of Psychology, University of Minnesota Twin Cities, Minneapolis, MN, USA

Michael B. Miller,William G. Iacono,Matt McGue,Robert F. Krueger&James J. Lee

Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK

Augustine Kong

Department of Economics, New York University, New York, NY, USA

Kevin Thom&David Cesarini

Center for Experimental Social Science, New York University, New York, NY, USA

David A. Hinds&David Cesarini

Department of Economics, University of Southern California, Los Angeles, CA, USA

Patrick Turley

Center for Economic and Social Research, University of Southern California, Los Angeles, CA, USA

Mark Alan Fontana&Patrick Turley

Interdisciplinary Center for Economic Science and Department of Economics, George Mason University, Fairfax, VA, USA

Jonathan P. Beauchamp

Human Genetics Department, UCLA David Geffen School of Medicine, Los Angeles, CA, USA

Daniel J. Benjamin&Alexander I. Young

Center for the Advancement of Value in Musculoskeletal Care, Hospital for Special Surgery, New York, NY, USA

Mark Alan Fontana

The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

Tune H. Pers,Pascal Timshel,Tarunveer S. Ahluwalia&Thorkild I. A. Srensen

Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark

Tune H. Pers&Pascal Timshel

Institute for Behavior and Biology, Erasmus University Rotterdam, Rotterdam, the Netherlands

Cornelius A. Rietveld,S. Fleur W. Meddens,Ronald de Vlaming&A. Roy Thurik

Department of Applied Economics, Erasmus School of Economics, Erasmus University Rotterdam, Rotterdam, the Netherlands

Cornelius A. Rietveld,Ronald de Vlaming&A. Roy Thurik

Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands

Cornelius A. Rietveld,Ronald de Vlaming,Najaf Amin,Frank J. A. van Rooij,Cornelia M. van Duijn,Henning Tiemeier,Andr G. Uitterlinden&Albert Hofman

Queensland Brain Institute, University of Queensland, Brisbane, QLD, Australia

Guo-Bo Chen,Zhihong Zhu,Andrew Bakshi,Anna A. E. Vinkhuyzen,Jacob Gratten&Jian Yang

Icelandic Heart Association, Kopavogur, Iceland

Valur Emilsson,Albert V. Smith&Vilmundur Gudnason

Faculty of Pharmaceutical Sciences, University of Iceland, Reykjavk, Iceland

Valur Emilsson

Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands

S. Fleur W. Meddens,Christiaan de Leeuw&Danielle Posthuma

Amsterdam Business School, University of Amsterdam, Amsterdam, the Netherlands

S. Fleur W. Meddens&Mal P. Lebreton

New York Genome Center, New York, NY, USA

Joseph K. Pickrell

Department of Biological Psychology, VU University Amsterdam, Amsterdam, the Netherlands

Abdel Abdellaoui,Jouke-Jan Hottenga,Gonneke Willemsen&Dorret I. Boomsma

Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen, Denmark

Tarunveer S. Ahluwalia,Klaus Bnnelykke,Johannes Waage&Hans Bisgaard

Steno Diabetes Center, Gentofte, Denmark

Tarunveer S. Ahluwalia&Johannes Waage

Department of Obstetrics and Gynecology, Institute of Clinical Sciences, Sahlgrenska Academy, Gothenburg, Sweden

Jonas Bacelis&Bo Jacobsson

Research Unit of Molecular Epidemiology, Helmholtz Zentrum Mnchen, German Research Center for Environmental Health, Neuherberg, Germany

Clemens Baumbach&Christian Gieger

Institute of Epidemiology II, Helmholtz Zentrum Mnchen, German Research Center for Environmental Health, Neuherberg, Germany

Clemens Baumbach&Christa Meisinger

deCODE Genetics/Amgen, Inc., Reykjavik, Iceland

Gyda Bjornsdottir,Gudmar Thorleifsson,Bjarni Gunnarsson,Bjarni V. Halldrsson,Kari Stefansson&Unnur Thorsteinsdottir

Department of Cell Biology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands

Johannes H. Brandsma&Raymond A. Poot

Istituto di Ricerca Genetica e Biomedica U.O.S. di Sassari, National Research Council of Italy, Sassari, Italy

Maria Pina Concas,Simona Vaccargiu&Mario Pirastu

Psychology, University of Illinois, Champaign, IL, USA

Jaime Derringer

Institute for Computing and Information Sciences, Radboud University Nijmegen, Nijmegen, the Netherlands

Tessel E. Galesloot&Lambertus A. L. M. Kiemeney

Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy

Giorgia Girotto,Dragana Vuckovic,Ilaria Gandin,Paolo Gasparini&Nicola Pirastu

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Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals - Nature.com

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Potential effect of amniotic fluid-derived stem cells on hyperoxia-induced pulmonary alveolar injury – DocWire News

Posted: April 6, 2022 at 2:04 am

This article was originally published here

Stem Cell Res Ther. 2022 Apr 4;13(1):145. doi: 10.1186/s13287-022-02821-3.

ABSTRACT

BACKGROUND: With the widespread of Coronavirus Disease 2019 pandemic, in spite of the newly emerging vaccines, mutated strains remain a great obstacle to supportive and preventive measures. Coronavirus 19 survivors continue to face great danger of contacting the disease again. As long as no specific treatment has yet to be approved, a great percentage of patients experience real complications, including among others, lung fibrosis. High oxygen inhalation especially for prolonged periods is per se destructive to the lungs. Nevertheless, oxygen remains the first line support for such patients. In the present study we aimed at investigating the role of amniotic fluid-mesenchymal stem cells in preventing versus treating the hyperoxia-induced lung fibrosis in rats.

METHODS: The study was conducted on adult albino rats; 5 pregnant female rats were used as amniotic fluid donors, and 64 male rats were randomly divided into two groups: Control group; where 10 rats were kept in normal atmospheric air then sacrificed after 2 months, and hyperoxia-induced lung fibrosis group, where 54 rats were exposed to hyperoxia (100% oxygen for 6 h/day) in air-tight glass chambers for 1 month, then randomly divided into the following 5 subgroups: Hyperoxia group, cell-free media-treated group, stem cells-prophylactic group, stem cells-treated group and untreated group. Isolation, culture and proliferation of stem cells were done till passage 3. Pulmonary function tests, histological examination of lung tissue under light and electron microscopes, biochemical assessment of oxidative stress, IL-6 and Rho-A levels, and statistical analysis of data were performed. F-test (ANOVA) was used for normally distributed quantitative variables, to compare between more than two groups, and Post Hoc test (Tukey) for pairwise comparisons.

RESULTS: Labelled amniotic fluid-mesenchymal stem cells homed to lung tissue. Stem cells administration in the stem cells-prophylactic group succeeded to maintain pulmonary functions near the normal values with no significant difference between their values and those of the control group. Moreover, histological examination of lung tissues showed that stem cells-prophylactic group were completely protected while stem cells-treated group still showed various degrees of tissue injury, namely; thickened interalveolar septa, atelectasis and interstitial pneumonia. Biochemical studies after stem cells injection also showed decreased levels of RhoA and IL-6 in the prophylactic group and to a lesser extent in the treated group, in addition to increased total antioxidant capacity and decreased malondialdehyde in the stem cells-injected groups.

CONCLUSIONS: Amniotic fluid-mesenchymal stem cells showed promising protective and therapeutic results against hyperoxia-induced lung fibrosis as evaluated physiologically, histologically and biochemically.

PMID:35379329 | DOI:10.1186/s13287-022-02821-3

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Recovery from muscle loss injuries hindered by immune cell conflicts – University of Michigan News

Posted: April 6, 2022 at 2:04 am

Tissues often fail to regenerate from traumatic muscle-loss injuries such as gunshot wounds and car accidents, and new research in mice from the University of Michigan sheds light on why.

The findings suggest new treatment strategies that could eventually restore function and prevent limb loss.

Skeletal muscle is the tissue that defines how we move and communicate, and its able to repair itself after injury through stem cells. But this doesnt happen when significant chunks of muscle are destroyed, known as volumetric muscle loss. Despite the prevalence of these injuries, little is understood about why they consistently overwhelm the bodys natural regenerative processes. And the medical community has no agreed upon standards of care for dealing with them.

In order to understand why volumetric muscle loss injuries do not heal, U-M researchers collaborated with partners at Georgia Tech, Emory University and the University of Oregon to study these injuries in mice.

Different types of white blood cells contribute to the repair of muscle injury by removing debris and signaling to stem cells to coordinate regeneration. However, the new results suggest that immune cells become dysregulated and prevent stem cell repair. For instance, the U-M team found that after volumetric muscle loss injuries that do not heal, neutrophilsa type of white blood cellremain at the injured site longer than normal.

The persistence of neutrophils at the injury site reduces the ability of muscle stem cells to make new and repair existing muscle fibers, said Jacqueline Larouche, a Ph.D. student in biomedical engineering at U-M and first author of the paper in the Proceedings of the National Academy of Sciences.

In addition to the neutrophils not doing their jobs properly, the team also found that they were being killed by other immune cells. Carlos Aguilar, U-M assistant professor of biomedical engineering, called this counterintuitive. Using single-cell RNA sequencing and imaging, neutrophils were observed to communicate with natural killer cells. Those natural killer cells essentially prompted neutrophils to self-destruct. By altering how the two cell types communicate, different healing outcomes are possible.

The fact that natural killer cells are inhibiting inflammation caused by neutrophils is a new role for what they might be doing, Aguilar said.

Alex Smith, a former quarterback in the National Football League, represents one of the best known examples of volumetric muscle loss. During a 2018 game, Smith suffered a gruesome compound fracture, breaking both the tibia and fibula of his right leg. Within days, doctors discovered a rare bacterial infection called necrotizing fasciitis spreading in the wound, and they had to remove a great deal of his muscle tissue. It took 17 surgeries and nearly two years for Smith to return to the fielda miracle recovery according to many.

The team hopes that better treatments could mean that recovery from these injuries is no longer miraculous.

The research was funded by the Congressionally Directed Medical Research program of the U.S. Department of Defense and the Defense Advanced Research Projects Agency.

Study: Neutrophil and natural killer cell imbalances prevent muscle stem cell-mediated regeneration following murine volumetric muscle loss

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You can reprogram cells, kind of like a computer and theyve gotten an upgrade – Syfy

Posted: April 6, 2022 at 2:04 am

Human stem cells can be rebooted so they morph into completely different cells. Now that this already futuristic method has been leveled up, it sounds even more like something out of science fiction.

This isnt about designing humans like the embryos that could not choose their fate in Brave New World. Reprogramming nave pluripotent stem cells (PSCs) was possible before, but researcher Peter Rugg-Gunn and his team from the Babraham Institutes Epigenetics research program in the U.K. have figured out how to get past some potential glitches. Rugg-Gunn, who led a study recently published in Science Advances, has found out what can further promote reprogramming and even which protein to inhibit so it doesnt get in the way.

Nave pluripotent stem cells can specialize into both embryonic (future embryo) and extraembryonic (future placenta and yolk sac) cell types, he told SYFY WIRE. This makes them hugely exciting and valuable for studying the very early stages of human development.

Pluripotent stem cells can self-replicate and create cells for every type of tissue in the human body. In their nave phase, they can take on the same properties as the cells of an embryo before implantation, including influences on gene expression that are not inherited and come from an outside source. These are known as epigenetic influences. They are also able to do something other pluripotent cells are not capable of, which is form extraembryonic cells. In the absence of pluripotent cells that come straight from an embryo, nave PSCs can also be formed by deleting the identity of specialized cells.

After screening for genes that both promote reprogramming and hold it back, the researchers figured out some reasons many previous reprogramming attempts were not that efficient. Reprogramming needs the epigenetic complex PRC1.3. The process involves so may different signals being fired at cells, trying to tell them what to become, and it is thought that PRC1.3 helps them resist the onslaught of signals. It supposedly keeps them from turning into something else besides nave PSCs by preventing certain genes from switching on.

It surprised us that the building blocks of PRC1.3 changed depending on whether the pluripotent stem cells were in a nave or primed state, said Rugg-Gunn. Before we discovered this, it was thought that PRC1.3 was always formed of the same components.

Some experiments in which PRC 1.3 was removed ended up with cells that fast-forwarded into a specialized cell type instead of rewinding to the nave phase. They have a tendency to turn into nerve cells for some reason. The researchers think that some cells might be making PRC1.3 with different ingredients than others, depending on what they want to specialize in, something that also happens early on in human development. It is possible that this complex protects unspecialized cells in embryos and that things dont always go as planned.

Something going wrong with how PRC1.3 affects stem cells could keep an embryo from developing any further. Another thing found to impede reprogramming is the epigenetic protein HDAC2. When this was blocked, cells could be reprogrammed faster. Both of these insights could be valuable for future treatments of genetic diseases. For example, extraembryonic cells might not sound like a big deal, but Rugg-Gunn thinks they can be morphed into pre-placental cells that can be studied to see why the placenta might not be forming the way it should.

We need to be able to create nave pluripotent stem cells with very high efficiency by reprogramming, he said. The current low efficiency of this step is a major barrier, but now that we have identified some problems, we can try to overcome them.

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You can reprogram cells, kind of like a computer and theyve gotten an upgrade - Syfy

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New part of the body found hiding in the lungs – Livescience.com

Posted: April 6, 2022 at 2:04 am

Scientists have discovered a brand-new type of cell hiding inside the delicate, branching passageways of human lungs. The newfound cells play a vital role in keeping the respiratory system functioning properly and could even inspire new treatments to reverse the effects of certain smoking-related diseases, according to a new study.

The cells, known as respiratory airway secretory (RAS) cells, are found in tiny, branching passages known as bronchioles, which are tipped with alveoli, the teensy air sacs that exchange oxygen and carbon dioxide with the bloodstream. The new RAS cells are similar to stem cells "blank canvas" cells that can differentiate into any other type of cell in the body and are capable of repairing damaged alveoli cells and transforming into new ones.

Researchers discovered the RAS cells after becoming increasingly frustrated by the limitations of relying on the lungs of mice as models for the human respiratory system. However, because of certain differences between the two, scientists have struggled to fill some knowledge gaps about human lungs. To get a better understanding of these differences on a cellular level, the team took lung tissue samples from healthy human donors and analyzed the genes within individual cells, which revealed the previously unknown RAS cells.

"It has been known for some time that the airways of the human lung are different than in the mouse," senior author Edward Morrisey, a professor at the Perelman School of Medicine at the University of Pennsylvania who specializes in respiratory systems, told Live Science. "But emerging technologies have only recently allowed us to sample and identify unique cell types."

Related: 10 strangest medical cases of 2021

The team also found RAS cells in ferrets, whose respiratory systems are more similar to humans' than those of mice are. As a result, the researchers suspect that most mammals equal or larger in size are likely to have RAS cells in their lungs, Morrisey said.

RAS cells serve two main functions in the lungs. First, they secrete molecules that maintain the fluid lining along bronchioles, helping to prevent the tiny airways from collapsing and maximizing the efficiency of the lungs. Second, they can act as progenitor cells for alveolar type 2 (AT2) cells, a special type of alveoli that secrete a chemical that is used in part to repair other damaged alveoli. (A progenitor cell is a cell that has the capacity to differentiate into another type of cell, similar to how stem cells differentiate into other cells.)

"RAS cells are what we've termed facultative progenitors," Morrisey said, "which means they act as both progenitor cells and also have important functional roles in maintaining airway health." This means RAS cells play a vital role in maintaining healthy lungs, he added.

The researchers think RAS cells may play a key role in smoking-related diseases, such as chronic obstructive pulmonary disease (COPD). COPD is the result of inflammation of airway passages inside the lungs, which can be caused by smoking and, occasionally, air pollution, according to the Mayo Clinic (opens in new tab). The inflammation of the airways makes it harder for the lungs to properly take in enough oxygen; as a result, COPD has similar symptoms to asthma. COPD can also lead to emphysema, in which alveoli are permanently destroyed, and chronic bronchitis, a long-lasting and intense cough usually accompanied by excess phlegm. Every year, more than 3 million people around the world die from COPD, according to the World Health Organization (opens in new tab).

In theory, RAS cells should prevent, or at least alleviate, the effects of COPD by repairing damaged alveoli. However, the researchers suspect that smoking can damage, or even completely destroy, the new cells, leading to the onset of diseases such as COPD.

Patients who have COPD are often prescribed anti-inflammatory drugs or oxygen therapy to ease their symptoms. However, these are only temporary solutions and do nothing to reverse lung damage. RAS cells could potentially be used to improve treatments or even cure COPD, if researchers can properly harness these cells' regenerative properties.

"We really don't know if this discovery could lead to a potential cure for COPD yet," Morrisey said. "However, since COPD is a disease we know very little about, any new insight should help the field start to think about new therapeutic approaches that could lead to better treatments."

The study was published online March 30 in the journal Nature (opens in new tab).

Originally published on Live Science.

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