Archive for May, 2024

SALT LAKE CITY, May 23, 2024 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in genetic testing and precision medicine, and its collaborators will share data from seven studies at the 2024 ASCO Annual Meeting. Three studies led by Myriad focus on breast cancer risk assessment, and four additional studies will be shared by collaborators that will cover the companys Precise MRD Test, MyChoice CDx HRD Companion Diagnostic Test, and the Myriad Collaborative Research Registry (MCRR). At booth 25014, Myriad will highlight the value of genetic testing and genomic insights in guiding personalized cancer treatment decisions, as well as share information about upcoming product innovations including MRD and liquid biopsy testing.

New Data at ASCO

Oral Presentation: Evaluation of a polygenic risk score as a predictor of early onset triple-negative breast cancer in Black women (Abstract #: 10501) Presenter: Holly J. Pederson, MD, Director, Medical Breast Services, Cleveland Clinic Date: Saturday, June 1, 2024 Time: 3:12 pm CT Description: This study demonstrates that Myriads RiskScore improves upon clinical factors for the prediction of triple-negative breast cancer and early onset (<50 years) triple-negative breast cancer in Black women.

Poster: Comparison of primary versus metastatic tumor tissue sources when designing panels for whole-genome-based tumor-informed ctDNA assays in clear cell renal cell carcinoma (Abstract #3039) Date: Saturday, June 1, 2024 Time: 9:00am 12:00pm CT Description: In a pilot study of patients with oligometastatic renal cell carcinoma, molecular residual disease (MRD) results were largely concordant with mortality status and between monitoring panels composed of thousands of probes identified from either primary or metastatic tumors, suggesting repeat biopsy might not be necessary for long term MRD monitoring.

Poster: Improving a polygenic risk score (PRS) for breast cancer (BC) risk assessment in diverse ancestries(Abstract #: 10533) Date: Monday, June 3, 2024 Time: 1:30 4:30pm CT Description: This study highlights a new 385-SNP PRS component of RiskScore and demonstrates it is well-calibrated, improves upon clinical factors, and outperformed existing PRS in all tested ancestries for the prediction of breast cancer risk.

Poster: Association of polygenic-based breast cancer risk prediction with patient management(Abstract #: 10527) Date: Monday, June 3, 2024 Time: 1:30 4:30pm CT Description: The study demonstrates that clinicians recommended breast cancer screening aligned with guidelines for those with 20% lifetime risk, regardless of whether risk was based on RiskScore or on Tyrer-Cuzick alone.

Poster: Germline Genetic Profiles of Women with Ovarian Malignancies: A Myriad Collaborative Research Registry Study (Abstract #: 5585) Date: Monday, June 3, 2024 Time: 9:00 am 12:00pm CT Description: This data shows that over 15% of patients with ovarian cancer have BRCA1/2 (12.5%) or Lynch syndrome (2.6%) pathogenetic variants varying by race, age, and tumor site. Noted disparities indicate the importance of universal testing in patients with ovarian cancer.

Poster: Germline Genetic Profiles of Women with Uterine Cancer: A Myriad Collaborative Research Registry Study(Abstract #: 5617) Date: Monday, June 3, 2024 Time: 9:00 am 12:00pm CT Description: There are significant differences in germline testing results for women with uterine cancer by race, ethnicity, and age, especially in genes associated with Lynch syndrome. This has implications for immunotherapy eligibility in the advanced and recurrent setting. More work needs to be done to identify targetable mutations in minority populations.

Poster: Neoadjuvant combination treatment of olaparib and pembrolizumab for patients with HRD-positive advanced ovarian cancer (Abstract #: 5545) Date: Monday, June 3, 2024 Time: 9:00 am 12:00pm CT Description: This study shows that neoadjuvant combination therapy of olaparib and pembrolizumab is effective and tolerable in patients with HRD-positive advanced ovarian cancer. BRCA1/2 mutations are associated with the efficacy of combination therapy.

Myriad Oncology Innovations Myriad continues to expand its oncology portfolio and expertise through product innovations and the addition of new team members, including the appointment of George Daneker Jr., MD, who is the president and chief clinical officer of oncology. Myriads Precise Oncology Solutions portfolio features comprehensive germline and somatic testing options, including the MyRisk Hereditary Cancer Test with RiskScore, Precise Tumor Test, Prolaris Prostate Cancer Prognostic Test, EndoPredict Breast Cancer Prognostic Test, Folate Receptor Alpha (Fr) Test, and Myriads two FDA-approved companion diagnostic tests: MyChoice CDx HRD Companion Diagnostic Test and BRACAnalysis CDx Germline Companion Diagnostic Test.

Ongoing oncology developments include:

MRD research collaborations. In the past year, Myriad has announced several important research collaborations: a retrospective study of MRD efficacy in metastatic breast cancer with researchers at Memorial Sloan Kettering Cancer Center (MSK), a retrospective analysis of MRD utility in metastatic renal cell carcinoma with clinicians at The University of Texas MD Anderson Cancer Center, and a prospective pan-cancer study with MRD researchers at the National Cancer Center Hospital East in Japan. Early results from the research collaboration with MD Anderson will be shared at ASCO as a poster.

As we continue to innovate and grow our oncology business, our vision remains centered around advancing oncology care for all patients, said Dr. Daneker. Our new research and product innovations underscore our commitment to partnering with oncologists, academic institutions and other healthcare partners to expand access to genetic and genomic testing, create equitable testing solutions for all, and provide data-driven insights that can better inform clinical care and improve outcomes for patients.

About Myriad Genetics Myriad Genetics is a leading genetic testing and precision medicine company dedicated to advancing health and well-being for all. Myriad develops and offers genetic tests that help assess the risk of developing disease or disease progression and guide treatment decisions across medical specialties where genetic insights can significantly improve patient care and lower healthcare costs. For more information, visit http://www.myriad.com.

Safe Harbor Statement This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the data and information that the company plans to present at the 2024 ASCO Annual Meeting and updates on upcoming product innovations including MRD and liquid biopsy testing. These forward-looking statements are managements expectations of future events as of the date hereof and are subject to known and unknown risks and uncertainties that could cause actual results, conditions, and events to differ materially and adversely from those anticipated. Such factors include those risks described in the companys filings with the U.S. Securities and Exchange Commission, including the companys Annual Report on Form 10-K filed on February 28, 2024, as well as any updates to those risk factors filed from time to time in the companys Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. Myriad is not under any obligation, and it expressly disclaims any obligation, to update or alter any forward-looking statements, whether as a result of new information, future events or otherwise except as required by law.

Investor Contact Matt Scalo (801) 584-3532 IR@myriad.com

Media Contact Glenn Farrell (385) 318-3718 PR@myriad.com

Original post:
Myriad Genetics Showcases New Research and Product Innovations Advancing Cancer Care at 2024 ASCO Annual ... - GlobeNewswire

Harnessing the power of artificial intelligence (AI), CHEO researchers have developed a groundbreaking search algorithm that identifies children and youth who may have an undiagnosed rare genetic disease and refers them for genetic testing putting an end to their diagnostic odyssey.

The ThinkRare algorithm is incredibly exciting and promising because it means we can help families find answers and get the care and support they need sooner, said Dr. Kym Boycott, Senior Scientist at the CHEO Research Institute and Chief of Genetics at CHEO. This algorithm is a game changer. Using AI to scour CHEOs electronic health record based on set criteria, ThinkRare can accurately identify kids who may have an undiagnosed rare genetic disease and refer them to our clinic something that may have never happened without it.

Ten-year-old Antony Wistaff and hisfamily have spentcountlesshours at CHEO, callingit a second home. Antony wasbornprematurely in October 2013 and a few dayslaterunderwent emergency surgery at CHEO to place a shunt for hydrocephalus. But thatwasonly the beginning of whatwouldbecome a decade-long diagnostic journeyconsisting of more than 100 outpatientappointmentsacross six differentspecialtyclinics at CHEO, and 30 trips to the emergency department for variousreasons.

That was until recently, when the ThinkRare algorithm identified Antony as potentially having an undiagnosed rare genetic disease and flagged him for a referral to receive genome-wide sequencing testing a test that simultaneously analyzes the more than 5,000 genes that have been associated with rare disease and is now available clinically in Ontario.

The results of the genetictestingdiscoveredthat Antony has Chung-Jansen Syndrome a rare disorderresultingfrom a pathogenic variant in the PHIP gene. At present, the syndrome has been diagnosed in only about 400 people worldwide and itexplainedmany of Antonyshealth and behavioural challenges, includinghisdevelopmentaldelays, learningdifficulties, and large head size.

When we found out that Antony was diagnosed with Chung-Jansen Syndrome, it answered so many questions for our family, said Georges Wistaff, Antonys dad. This research brought a kind of peace to our house. Hadweknownthissooner, itwould have meantlessquestioning as parents, less stress, and more support becausewewould have had a cleardiagnosis for Antony. A little bit of blood and a simple test, answeredsomany questions.

To date, Think Rare, whichiscurrently operating as a researchprojectapproved by the CHEO ResearchEthicsBoard, isthree for three meaning the first three patients identified by ThinkRare and referred to genetics have received test results and been diagnosedwith a rare disease. Genetictestingisunderway for manyotherfamiliesidentified by ThinkRare.

Our goal is to flip the diagnostic care journey on itshead and start withgenetictestingearlier on the care pathway. By incorporating the ThinkRarealgorithmintoclinical care, wewillbe able to support CHEO clinicians and frontlineworkerswith the power of machine learning to find the needle in the haystack, added Dr. Boycott, whois a Tier 1 Canada Research Chair in Rare DiseasePrecisionHealth and Professor of Pediatrics at the University of Ottawa.

Work iscurrentlyunderway at CHEO to transition the ThinkRareprojectfrom researchintoclinical practice, with all the necessary patient privacymechanisms in place.

CHEO isuniquelypositioned to develop an impactfulalgorithmsuch as ThinkRarebecause of CHEOsinvestment in a robustelectronichealth record system, ourcommitment to innovation, our close collaboration betweenclinical and researchteams, and becausewe are the only pediatric healthcare centre in Eastern Ontario serving a widegeographic area. At CHEO, we have broughttogether all the necessaryelementswhenitcomes to making AI advancements in healthcare, said Dr. Jason Berman, CEO and Scientific Director, CHEO Research Institute, and Vice-PresidentResearch, CHEO.

The ThinkRareprojectwas made possible withfundingfrom the CHEO Foundation, the CHAMO Innovation Fund, and Ontario Genomics.

-30-

Media contact:

Jennifer Ruff Director of Communications CHEO Research Institute (613) 261-3979 jruff@cheo.on.ca

About the CHEO Research Institute

The CHEO Research Institute is a global centre of excellence in pediatric research that connects talent and technology in pursuit of life-changing research for every child, youth and family in the CHEO community and beyond. The CHEO Research Institute coordinates the researchactivities of CHEO and isaffiliatedwith the University of Ottawa. At the CHEO Research Institute, discoveries inspire the best life for everychild and youth. For more information, visitcheoresearch.ca.

The rest is here:
World-first AI algorithm developed at CHEO leads to rare disease diagnosis for families - CHEO

INFORMATION. WERE ALL FAMILIAR WITH THE TERM. IT RUNS IN THE FAMILY. MUCH OF OUR DNA COMES FROM OUR PARENTS, GRANDPARENTS, AND SO FORTH, AND DNA CAN REGULARLY CONTRIBUTE TO HEREDITARY CANCER RISK, ACCORDING TO THE NATIONAL CANCER INSTITUTE. THESE INHERITED VARIANTS ARE THOUGHT TO CONTRIBUTE TO ABOUT 5 TO 10% OF ALL CANCERS AND ITS NOT JUST THE COMMON CANCERS WERE USED TO HEARING ABOUT BEING HEREDITARY THAT ARE BEING TESTED FOR, BUT IT REALLY CAN RANGE THE SPECTRUM OF BEYOND JUST BREAST AND OVARIAN CANCER. BUT TO THINGS LIKE COLON CANCER, UTERINE CANCER, PANCREATIC CANCER AND PROSTATE CANCER, JUST TO NAME SOME OF THOSE. BUT THERE IS A WAY TO HELP YOU LEARN ABOUT POSSIBLE RISKS FOR CERTAIN TYPES OF CANCER, AND THAT IS THROUGH GENETIC TESTING. ITS THE USE OF MEDICAL TESTS TO LOOK FOR A CERTAIN MUTATION OR CHANGES IN A PERSONS GENES. WE KNOW STUDIES SHOW EARLY DETECTION CAN SAVE LIVES. THE WHOLE IDEA OF CATCHING CANCER EARLY MAKES SUCH A DIFFERENCE IN PROGNOSIS FOR A PATIENT, AS WELL AS OPTIONS FOR TREATMENT. MICHAEL ESCO GOT TESTED TO DETERMINE HIS POSSIBLE RISK. HE SAYS HIS MOTHER, HIS MATERNAL GRANDMOTHER, BOTH HAD BREAST CANCER AND TESTED POSITIVE FOR THE BRCA GENE. BOTH MYSELF AND MY SISTER I KNEW WERE 50 OVER 50 TO GET THAT AND AND IM A FIRM BELIEVER THAT KNOWLEDGE IS POWER. AND I JUST WANTED TO BE ARMED WITH THAT INFORMATION SO I COULD PLAN ACCORDINGLY. MOVING FORWARD. IT MAKES ME CONFIDENT AND HAPPY TO KNOW THAT I HAVE TAKEN A MATURE, RESPONSIBLE APPROACH WITH THIS. ESCO SAYS ONCE HE LEARNED HE CARRIED THE GENE, HE SPOKE TO A GENETIC COUNSELOR WHO GAVE HIM INFORMATION THAT HE NOW USES TO MAKE DECISIONS ABOUT HOW TO MOVE FORWARD WITH TREATMENTS AND PLANS OF ACTION BEFORE AND AFTER GENETIC TESTING. GENETIC COUNSELORS HELP PATIENTS UNDERSTAND AND WHAT TEST RESULTS MEAN. EXPLAIN RISKS AND WHAT YOU CAN DO ABOUT THOSE RISKS. GENETIC TESTING AND GENETIC COUNSELING IS REALLY AN EXPERIENCE TO HELP EMPOWER INDIVIDUALS WHEN IT COMES TO KNOWING THEIR HEALTH INFORMATION. ESCO, SHARING HIS STORY, SAYING AS NERVE WRACKING AS THESE TESTS MAY BE, IT CAN BE LIFE SAVING AND SAYS IT MAKES YOU SO MUCH LESS LIKELY TO BE CAUGHT OFF GUARD. THERE IS THE POTENTIAL TO BE CONFRONTED WITH SOME INFORMATION THAT COULD BE OVERWHELMING OR UNDESIRED, BUT I THINK THAT IF SOMEBODY DECIDES THAT THEY WANT TO TAKE A PROACTIVE AND AND ACTIONABLE APPROACH JUST TO REALLY PRIORITIZE THEIR HEALTH MOVING FORWARD, I THINK THAT KNOWING WHAT YOUR PERSONAL RISK FACTORS ARE HELPS YOU MITIGATE THOSE. GENETIC TESTING MAY BE RECOMMEND FOR PEOPLE WHO HAVE HAVE CERTAIN CANCERS OR CERTAIN PATTERNS OF CANCER IN THEIR FAMILY. THE AMERICAN CANCER SOCIETY RECOMMENDS TALKING TO YOUR PRIMARY CARE DOCTOR OR A GENETIC COUNSELOR ABOUT TESTING. IF YOU HAVE SEVERAL FIRST DEGREE RELATIVES WITH CANCER, A CLUSTER OF CANCERS IN YOUR FAMILY, A FAMILY MEMBER WITH MORE THAN ONE TYPE OF CANCER, OR A FAMILY MEMBER WHO DEVELOPED CANCER AT A YOUNG AGE, WHICH IS TYPICALLY NOTED AS LESS THAN 50 YEARS OLD, THEY MAY NEVER BE DIAGNOSED WITH CANCER, EVEN IF THEY DO TEST POSITIVE FOR ONE OF THESE GENES, BUT ITS IN EVERYONES BEST INTEREST TO FIND OUT THIS INFORMATION EARLY WHEN THERES MORE OPTIONS TO TO UNDERGO. YASMIN RODRIGUEZ, PITTSBURGHS ACTION NEWS FOUR. AND GENETIC TESTING CAN BE DONE WITH EITHER A BLOOD TEST OR A SALIVA SAMPLE. IF YOURE INTERESTED IN THIS TYPE OF SCREENING, GENETIC COUNSELORS RECOMMEND STARTING A CONVERSATION WITH

Genetic cancer screening: Learning more about lesser known hereditary cancers

The testing is available through a primary care doctor

Updated: 10:58 AM EDT May 20, 2024

We have heard there are ways to mitigate the risks of developing cancer, but now we're learning some cancers are hereditary. Determining your possible risks has become more accessible, and a simple test can tell you a lot you should know.We're all familiar with the term "it runs in the family." Much of our DNA comes from our parents, grandparents and so forth. And DNA can regularly contribute to hereditary cancer risk. According to the National Cancer Institute, these inherited variants are thought to contribute to about 5% to 10% of all cancers.It's not just the common cancers we're used to hearing about being hereditary that are tested for."It really can range the spectrum of beyond just breast and ovarian cancer, but to things like colon cancer, uterine cancer, pancreatic cancer and prostate cancer, just to name some of those," genetic counselor Amy Kunz said.But there is a way to help you learn about possible risks for certain types of cancer, and that is through genetic testing. It's the use of medical tests to look for certain mutations, or changes, in a person's genes."We know studies show early detection can save lives. The whole idea of catching cancer early makes such a difference in prognosis for a patient, as well as options for treatment," Kunz said.Michael Isoke got tested to determine his possible risk. He says his mother and maternal grandmother both had breast cancer and tested positive for the BRCA gene."Both myself and my sister I knew were 50/50 to get that, and I'm a firm believer that knowledge is power, and I just wanted to be armed with that information so I could plan accordingly moving forward," Isoke said. "It makes me confident and happy to know that I have taken a mature, responsible approach with this."Isoke says once he learned he carried the gene, he spoke to a genetic counselor who gave him information that he now uses to make decisions about how to move forward with treatments and plans of action. Before and after genetic testing, genetic counselors help patients understand what test results mean, explain risks and what you can do about those risks. "Genetic testing and genetic counseling is really an experience to help empower individuals when it comes to knowing their health information," Kunz said.Isoke is sharing his story. He says that as nerve-wracking as these tests may be, they can be lifesaving and make you much less likely to be caught off guard."There is the potential to be confronted with some information that can be overwhelming or undesired, but I think that if somebody decides that they want to take a proactive and actionable approach, just to really prioritize their health moving forward, I think that knowing what your personal risk factors are helps you mitigate this," Isoke said.Genetic testing may be recommended for people who have certain cancers or certain patterns of cancer in their family. The American Cancer Society recommends talking to your primary care doctor or a genetic counselor about testing if you have several first-degree relatives with cancer, a cluster of cancers in your family, a family member with more than one type of cancer, or a family member who developed cancer at a young age, which is typically noted as less than 50 years old."They may never be diagnosed with cancer, even if they do test positive for one of these genes, but it's in everyone's best interest to find out this information early when there's more options to undergo," Kunz said.Genetic testing can be done with either a blood test or a saliva sample. If you are interested in this type of screening, genetic counselors recommend starting a conversation with your family doctor about your concerns and family history.

We have heard there are ways to mitigate the risks of developing cancer, but now we're learning some cancers are hereditary. Determining your possible risks has become more accessible, and a simple test can tell you a lot you should know.

We're all familiar with the term "it runs in the family." Much of our DNA comes from our parents, grandparents and so forth. And DNA can regularly contribute to hereditary cancer risk. According to the National Cancer Institute, these inherited variants are thought to contribute to about 5% to 10% of all cancers.

It's not just the common cancers we're used to hearing about being hereditary that are tested for.

"It really can range the spectrum of beyond just breast and ovarian cancer, but to things like colon cancer, uterine cancer, pancreatic cancer and prostate cancer, just to name some of those," genetic counselor Amy Kunz said.

But there is a way to help you learn about possible risks for certain types of cancer, and that is through genetic testing. It's the use of medical tests to look for certain mutations, or changes, in a person's genes.

"We know studies show early detection can save lives. The whole idea of catching cancer early makes such a difference in prognosis for a patient, as well as options for treatment," Kunz said.

Michael Isoke got tested to determine his possible risk. He says his mother and maternal grandmother both had breast cancer and tested positive for the BRCA gene.

"Both myself and my sister I knew were 50/50 to get that, and I'm a firm believer that knowledge is power, and I just wanted to be armed with that information so I could plan accordingly moving forward," Isoke said. "It makes me confident and happy to know that I have taken a mature, responsible approach with this."

Isoke says once he learned he carried the gene, he spoke to a genetic counselor who gave him information that he now uses to make decisions about how to move forward with treatments and plans of action. Before and after genetic testing, genetic counselors help patients understand what test results mean, explain risks and what you can do about those risks.

"Genetic testing and genetic counseling is really an experience to help empower individuals when it comes to knowing their health information," Kunz said.

Isoke is sharing his story. He says that as nerve-wracking as these tests may be, they can be lifesaving and make you much less likely to be caught off guard.

"There is the potential to be confronted with some information that can be overwhelming or undesired, but I think that if somebody decides that they want to take a proactive and actionable approach, just to really prioritize their health moving forward, I think that knowing what your personal risk factors are helps you mitigate this," Isoke said.

Genetic testing may be recommended for people who have certain cancers or certain patterns of cancer in their family. The American Cancer Society recommends talking to your primary care doctor or a genetic counselor about testing if you have several first-degree relatives with cancer, a cluster of cancers in your family, a family member with more than one type of cancer, or a family member who developed cancer at a young age, which is typically noted as less than 50 years old.

"They may never be diagnosed with cancer, even if they do test positive for one of these genes, but it's in everyone's best interest to find out this information early when there's more options to undergo," Kunz said.

Genetic testing can be done with either a blood test or a saliva sample. If you are interested in this type of screening, genetic counselors recommend starting a conversation with your family doctor about your concerns and family history.

Read more:
Genetic Cancer Screening: Learn more about hereditary cancers - WTAE Pittsburgh

PASADENA, Calif., May 23, 2024 (GLOBE NEWSWIRE) -- Genetic Technologies Limited (ASX: GTG; NASDAQ: GENE, Company, GeneType), a global leader in genomics-based tests in health, wellness and serious disease, is pleased to announce that the Know Your Risk event held yesterday at The Langham Pasadena has set a new standard for womens health initiatives, highlighting the transformative potential of genetic testing and risk assessment. Organized by GeneType and Humanise Health, in partnership with Thermo Fisher Scientific and Creators Entertainment Group, this landmark event was not merely a gathering, but a movement aimed at empowering women with the knowledge to take control of their health.

A Movement, Not Just an Event

The Know Your Risk event was designed to foster an environment where women could engage with cutting-edge discussions on genomics and the importance of personalized health strategies. Through thought-provoking sessions led by renowned healthcare professionals, attendees explored how genetic testing and risk assessment can revolutionize preventive healthcare for women.

Inspirational Speakers and Insightful Panels Co-hosted by the esteemed Dr. Kristi Funk and the dynamic Krystal Barter, the event featured a series of enlightening panels. Dr. Funk, Angelina Jolies Breast Surgeon, and Krystal Barter, along with an impressive lineup of speakers including Dr. Carolynn Young, Andrea Hans, Allyn Rose Oertel, and Matthew Zachary, provided invaluable insights into the critical role of genomics in womens health.

Key Sessions Included:

Unpacking the Gender Health Gap: The Vital Role of Genetic Testing and Risk Assessment in Cancer Prevention for Womens Health Dr. Kristi Funk, Dr. Carolynn Young, and Krystal Barter delved into how genetic testing can identify risks early, bridging the gap in gender-specific healthcare.

Patient Voices at the Center: Lived Experiences in Womens Health Advocacy and Policy Andrea Hans, Matthew Zachary, and Allyn Rose Oertel shared personal stories and discussed the impact of patient advocacy on health policies and practices.

Launch of the Revolutionary GeneType Test A highlight of the event was the launch of the groundbreaking geneType hereditary breast and ovarian cancer test. This innovative test is designed to identify 100 percent of women at risk, including those with the most common gene mutations, regardless of family history. This advancement represents a significant leap forward in preventive healthcare, offering women the tools they need to make informed decisions about their health.

A Transformative Experience The Know Your Risk event successfully created a platform for education, empowerment, and community. It underscored the importance of genetic testing and risk assessment in transforming womens health, inspiring attendees to advocate for their health and well-being proactively.

Enquiries Simon Morriss Chief Executive Officer E: investors@genetype.com

About Genetic Technologies Limited Genetic Technologies Limited (ASX: GTG; Nasdaq: GENE) is a diversified molecular diagnostics company. A global leader in genomics-based tests in health, wellness and serious disease through its geneType and EasyDNA brands. GTG offers cancer predictive testing and assessment tools to help physicians to improve health outcomes for people around the world. The company has a proprietary risk stratification platform that has been developed over the past decade and integrates clinical and genetic risk to deliver actionable outcomes to physicians and individuals. Leading the world in risk prediction in oncology, cardiovascular and metabolic diseases, Genetic Technologies continues to develop risk assessment products. For more information, please visit http://www.genetype.com

About GeneType and Humanise Health GeneType and Humanise Health are at the forefront of personalized healthcare, committed to advancing women's health through innovative genetic testing and comprehensive risk assessment.

Forward Looking Statements

This announcement may contain forward-looking statements about the Company's expectations, beliefs or intentions regarding, among other things, statements regarding the expected use of proceeds. In addition, from time to time, the Company or its representatives have made or may make forward-looking statements, orally or in writing. Forward-looking statements can be identified by the use of forward-looking words such as "believe," "expect," "intend," "plan," "may," "should" or "anticipate" or their negatives or other variations of these words or other comparable words or by the fact that these statements do not relate strictly to historical or current matters. These forward-looking statements may be included in, but are not limited to, various filings made by the Company with the U.S. Securities and Exchange Commission, press releases or oral statements made by or with the approval of one of the Company's authorized executive officers. Forward-looking statements relate to anticipated or expected events, activities, trends or results as of the date they are made. As forward-looking statements relate to matters that have not yet occurred, these statements are inherently subject to risks and uncertainties that could cause the Company's actual results to differ materially from any future results expressed or implied by the forward-looking statements. Many factors could cause the Company's actual activities or results to differ materially from the activities and results anticipated in such forward-looking statements as detailed in the Company's filings with the Securities and Exchange Commission and in its periodic filings with the ASX in Australia and the risks and risk factors included therein. In addition, the Company operates in an industry sector where securities values are highly volatile and may be influenced by economic and other factors beyond its control. The Company does not undertake any obligation to publicly update these forward-looking statements, whether as a result of new information, future events or otherwise, except as required by law.

More:
GeneType and Humanise Health host Know Your Risk Event - GlobeNewswire

The Rare Disease Genetic Testing Market is projected to grow significantly, with its size expected to reach USD 3,051.6 million by 2032 from USD 918.94 million in 2023, at a compound annual growth rate (CAGR) of 13.1% during the forecast period from 2022 to 2032. This growth is driven by several factors including the increasing prevalence of rare diseases, advancements in genetic testing technologies, and heightened government initiatives aimed at improving diagnosis and treatment.

Expanding patient registries and the development of new genetic testing technologies such as Next-Generation Sequencing (NGS) are pivotal in driving market growth. NGS, which accounted for over 35% of the market share in 2022, enables comprehensive genetic testing that is crucial for diagnosing a wide range of rare diseases. Moreover, government initiatives like the US FDAs program for rare neurodegenerative diseases and the UK Rare Disease Framework emphasize faster diagnosis and improved treatment access, further propelling the market.

However, challenges such as the high cost of genetic tests and the limited availability of trained healthcare personnel pose significant barriers. The cost factor particularly affects accessibility in low- and middle-income countries, potentially limiting market growth in these regions.

Recent developments in the market include strategic collaborations and technological advancements. For example, in 2022, Bionano Genomics launched the Rare Undiagnosed Genetic Disease (RUGD) initiative to support research and improve patient care, and Predicine Inc. received FDA approval for an NGS assay for tumor mutation profiling. These developments highlight the ongoing efforts to enhance genetic testing capabilities and accessibility.

Overall, the markets growth is bolstered by technological advancements, increasing awareness and diagnosis of rare diseases, and supportive government policies, despite the challenges of cost and resource availability.

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Quest Diagnostics is a leading provider of diagnostic information services, including comprehensive genetic testing for rare diseases. The company acquired Blueprint Genetics to enhance its capabilities in gene variant interpretation and next-generation sequencing. This acquisition enables Quest to offer highly specialized genetic insights, improving patient care and pharmaceutical drug development. Blueprint Genetics provides over 200 panel tests spanning 14 medical specialties, catering to the needs of patients with rare genetic conditions. Quests extensive infrastructure and advanced diagnostics ensure broad access to high-quality, actionable genetic data.

Centogene N.V. specializes in rare disease diagnostics and genetic testing, with a focus on transforming clinical and genetic data into actionable medical information. The company operates a global network of laboratories and provides comprehensive testing services, including whole exome sequencing, biomarker discovery, and patient-centric data repositories. Centogenes proprietary CentoMD platform integrates clinical and genetic data to support accurate diagnosis and treatment planning for rare diseases. By leveraging advanced bioinformatics, Centogene aims to accelerate the development of personalized therapies for patients worldwide.

Invitae Corp. is dedicated to bringing comprehensive genetic information into mainstream medical practice to improve healthcare for billions of people. The company offers a wide range of genetic tests, including those for rare diseases, and emphasizes accessibility and affordability. Invitaes robust genetic testing services are supported by an integrated platform that combines advanced sequencing technology with extensive data analysis. This approach helps clinicians and patients make informed decisions about managing rare genetic conditions, enhancing diagnostic accuracy, and facilitating personalized treatment plans.

3billion Inc. focuses on diagnosing rare genetic disorders through whole exome sequencing and advanced bioinformatics. The company aims to make genetic testing more accessible and affordable, offering comprehensive diagnostic solutions that cover thousands of rare diseases. 3billions platform uses proprietary algorithms and extensive genetic databases to interpret sequencing data accurately. This enables precise diagnosis and supports the development of targeted therapies for rare genetic conditions, improving patient outcomes and advancing personalized medicine.

Arup Laboratories is a national reference laboratory offering extensive genetic testing services, including those for rare diseases. The companys expertise in genetic diagnostics spans various medical specialties, with a strong focus on high-quality, reliable results. Arup utilizes state-of-the-art technologies, such as next-generation sequencing and chromosomal microarray analysis, to detect and interpret genetic variants associated with rare conditions. Their commitment to research and innovation ensures continuous improvement in diagnostic accuracy and patient care, supporting healthcare providers in managing rare genetic disorders effectively.

Rare Disease Genetic Testing Market Report Scope >> Market Value (2023): USD 918.9 Million || Forecast Revenue (2033): USD 3,051.6 Million || CAGR (2024-2033): 13.1% || Base Year Estimation: 2023 || Historic Period: 2019-2022 || Forecast Period: 2024-2033.

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What We Know

Hormonal contraceptives (HC) may help stabilize the fluctuations in estrogen and progesterone that occur during the menstrual cycle and in perimenopause that are particularly impairing for neurodivergent women, however research has found a correlation between some types of oral HC use and higher rates of depression in women with ADHD.

The impact of sex hormones, including estrogen and progesterone, on ADHD symptoms in women has only recently become the subject of scientific inquiry. A recent study found that various ADHD symptoms wax and wane depending on the menstrual phase. Researchers found that estrogen has a protective effect for both cognition and emotional regulation, and that ADHD symptoms tend to worsen when estrogen drops. 1

These findings are reflected in the lived experience of ADDitude readers. In a recent survey, a full 98% of respondents reported experiencing hormone-related changes in cognitive function and/or mood, including changes in focus, attention and memory as well as emotional regulation.

Oral HC, or birth control pills, typically contain synthetic estrogen and progesterone. In addition to preventing pregnancy, they are often used to treat heavy menstrual bleeding, painful cramps, irregular periods, polycystic ovarian syndrome, and acne. In addition, some clinicians prescribe oral HC to stabilize hormone levels in women and treat premenstrual syndrome (PMS) and/or premenstrual dysphoric disorder (PMDD), which impact two-thirds of women with ADHD, according to an ADDitude survey.

Until recently, the implications of oral HC use for women with ADHD were entirely uninvestigated, however a recent study published in Journal of the American Academy of Child and Adolescent Psychiatry (JAACP),2 revealed that:

Systemic hormonal contraception contains progestins that inhibit the ovulatory cycle and thereby smoothens the hormonal profile, but it may also mimic the negative mood symptoms experienced from natural progesterone during the luteal phase of the menstrual cycle, explains Lotta Burg Skoglund, M.D., Ph.D., a lead author on the study. However, most women do not experience these negative mood effects and, somewhat counterintuitively, some progestins may even alleviate symptoms of PMDD.

An ADDitude survey of nearly 5,000 women revealed that 93% of respondents aged 45 and older experienced elevated and aggravated ADHD symptoms in perimenopause and/or menopause. More than half of these women said their ADHD symptoms including feelings of overwhelm, procrastination, and memory issues had a life-altering impact in menopause. We know that for hormone replacement therapy (HRT) can effectively alleviate common symptoms of menopause, such as hot flashes, mood lability, and insomnia, and it may offer other benefits.

Studies show that HRT, if initiated within 10 years of menopause, reduces all-cause mortality and risks of coronary disease, osteoporosis, and dementia,3 explains Jeanette Wasserstein, Ph.D., in the ADDitude article, Menopause, Hormones & ADHD: What We Know, What Research is Needed. Overall, recent research suggests that the risk in using any type of HRT is lower than previously reported in literature.

Research has revealed heightened risk for some cancers associated with some forms of HRT, so Wasserstein highlights that a thorough consultation with a medical provider is critical before beginning HRT.

No studies have probed the implications of HRT use for climacteric women with ADHD and we know very little about the potential benefits or risks of HC for women with ADHD.

ADHD is a common illness, but few studies have looked at the association of hormonal stages and ADHD symptoms, write the authors of a systematic review of sex hormones, reproductive stages, and ADHD published in Archives of Womens Mental Health.4Notably, we did not find any studies investigating ADHD symptoms in other female physiological states such as pregnancy or menopause or looking at the response of patients with ADHD to hormonal treatments such as hormone replacement therapy.

The small puzzle pieces of existing data are surrounded by questions. Why, for example, did women with ADHD on oral HC experience far higher rates of depression while those on hormone implants or IUDs did not? Until more research is conducted, researchers are left to theorize.

It may be that, when taking oral birth control, women with ADHD might be extra susceptible to forget to take their birth control pills or may take them irregularly, causing hormonal fluctuations that may destabilize mood, explained Skoglund in her ADDitude webinar, The Emotional Lives of Girls with ADHD. Also, a womans hormonal levels will fluctuate during assumed pill-free intervals.

Some anecdotal reports suggest the use of oral HC, which minimize hormonal fluctuations, may improve ADHD symptoms in some women.

I was surprised and amazed by the extent to which my focus and my executive functioning improved since I started hormonal birth control, said Silvia, an ADDitude reader in Italy. I totally reshaped my life: I decided to start coaching people again, joined a company and am thinking of going back to university again to obtain a second degree. I dont experience mood swings anymore and I feel less exposure to RSD.

These anecdotal reports offer promise. But without research, clinicians lack a solid foundation of data to make treatment recommendations.

We need to find out why some women feel better with oral contraceptives and others feel depressed, says J.J. Sandra Kooij, M.D., Ph.D. It is about hormone sensitivity, and how hormones interact with neurotransmitters such as dopamine in women with ADHD, but exactly what drives this difference is still unclear.

Given a total lack of research studies, there is virtually no reliable science regarding the risks and benefits of HRT for peri- and post-menopausal women. Among the many questions that remain unanswered are the following:

Hormonal contraceptives are among several first-line treatments for PMS and PMDD, which impact women with ADHD with heightened frequency and intensity.5 Symptoms of these mood disorders are frequently debilitating, and include suicidal ideation. A comprehensive understanding of possible treatment options for these women could significantly improve quality of life and reduce the risk of self-harm.

Reliable, well-tolerated contraception is also critical for girls and women with ADHD because they are six times more likely to give birth as teenagers compared with women without this diagnosis, according to a recent study led by Skoglund. 6

These dramatically heightened rates of unplanned pregnancy were also found in the groundbreaking Berkeley Girls with ADHD Longitudinal Study, led by Stephen P. Hinshaw, Ph.D., professor of psychology at the University of California, Berkeley. By the time they reached their mid to late 20s, about 43% of the BGALS participants in the ADHD group had one or more unplanned pregnancies, Hinshaw told ADDitude.

Research has found that experiencing unwelcome psychological side effects is the most commonly reported reason for the discontinuation of hormonal contraception, a decision which could have far-reaching implications.7

Unwanted pregnancy undermines womens schooling, health and social status and is directly linked to the negative psychosocial impact of ADHD on health, autonomy, academic performance, and quality of life, Skoglund says. Averting underage parenthood through effective contraception methods will likely benefit womens education, empowerment, health and quality of life, their families, offspring, and society from a health economic perspective and have broad and public health benefits, extending far beyond the targeted group.

Hormonal contraceptives earn mixed reviews from readers, some of whom find them helpful in balancing mood and reducing ADHD symptoms; others report that HC use increases in anxiety, irritability and depression, among other intolerable side effects.

Hormonal birth control affected me so negatively that I went off of it. It was highly disruptive to my mood and overall wellbeing, says Jen, a reader in Utah. I dont mess with the hormones even though they love to mess with me.

I had an IUD for 7 years. Within a few days, I could not believe the change in my mood. I felt more emotionally even and steady than I had felt in years, shares ADDitude reader Anne.

My PMDD was exacerbated by any hormone preparation, including the pill. The low-dose Mirena was an absolute nightmare for me, says Nicole, an ADDitude reader. Im so hesitant to try anything to manage impending menopause, which has me ever more on edge, and Im not sure yet how to advise my teen on these matters.

I started birth control due to PMDD. The mini-pill has been fantastic for my ADHD. I have fewer hormonal fluctuations, says Karen, an ADDitude reader in Idaho. I can finally rely on myself to be functional every day (as long as I get enough sleep and take my ADHD meds).

I detested the combined pill. It wrecked my mental health, and gave me dangerous migraines), offers another ADDitude reader. I was still disorganized, unmotivated with the added bonus of all the physical and mental downsides of the combined pill.

ADDitude readers often report improved brain fog, memory issues, and mood swings while on HRT, though some say their doctors resist prescribing hormone replacement.

As I approach menopause, my ADHD symptoms have worsened exponentially severe memory and concentration problems, plus brain fog, mood swings, acne, sleep problems, fatigue. Ive been barely able to work for almost a year now, says Jennifer, an ADDitude reader in California. I begged my doctor for HRT, but they wont prescribe it since Im not technically in menopause yet. They put me back on the pill to see if that would help, but it didnt help at all with any of my current symptoms and gave me terrible cramps and made me feel crappy the whole time.

I am really glad to be on estrogen HRT because it is preventing the double-whammy of menopause and ADHD, at least for now, says Jaime, an ADDitude reader in North Carolina.

I have recently started on hormones for women in (peri)menopause, and the horrendous brain fog Ive been dealing with for the past 18 months has lifted a great deal, says Isabella, an ADDitude reader in the Netherlands.

I am postmenopausal, and take estrogen replacement daily, says Amy, an ADDitude reader in Michigan. I think my ADHD is worse on days that I miss my dose of estrogen.

Given the known relationship between fluctuating hormones and ADHD symptoms, researchers must explore how we can safely employ HC and HRT to ameliorate both mood and cognitive symptoms.

Given the increased risk of depression in women with ADHD, which may be further increased by oral HC use, future clinical trials on contraception need to include women with mental health problems, including ADHD, to guide prescribers on the best available choices for these women, write the authors of the JAACP study.

In medicine, women are still understudied because they are considered less reliable research subjects than men, due to hormonal changes during the lifespan, explains Kooij in Hormonal Sensitivity of Mood Symptoms in Women with ADHD Across the Lifespan.8 Women with ADHD have been even more understudied, while exactly their hormonal mood changes and increased severity of ADHD urgently need our research attention.

Females with ADHD are usually excluded from studies on contraceptive effectiveness and tolerability, Skoglund explains. As contraception is a burden for women to carry due to male methods being less effective, lack of knowledge on how different contraceptives affect women with ADHD may create an undue burden.

Intro: Top 10 Research Priorities

1 Eng, A.G., Nirjar, U., Elkins, A.R., Sizemore, Y.J., Monticello, K.N., Petersen, M.K., Miller, S.A., Barone, J., Eisenlohr-Moul, T.A., & Martel, M.M. (2024). Attention-deficit/hyperactivity disorder and the menstrual cycle: Theory and evidence. Hormones and Behavior, 158(105466). ISSN 0018-506X. https://doi.org/10.1016/j.yhbeh.2023.105466

2 Lundin, C., Wikman, A., Wikman, P., Kallner, H. K., Sundstrm-Poromaa, I., & Skoglund, C. (2023). Hormonal Contraceptive Use and Risk of Depression Among Young Women With Attention-Deficit/Hyperactivity Disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 62(6), 665674. https://doi.org/10.1016/j.jaac.2022.07.847)

3 Langer, R. D., Hodis, H. N., Lobo, R. A., & Allison, M. A. (2021). Hormone replacement therapy where are we now?. Climacteric : The Journal of the International Menopause Society, 24(1), 310. https://doi.org/10.1080/13697137.2020.1851183

4 Camara, Bettina, et al. Relationship between sex hormones, reproductive stages and ADHD: a systematic review. Archives of Womens Mental Health, vol. 25, no. 1, Feb. 2022, pp. 1+. Gale OneFile: Health and Medicine

5 Ali SA, Begum T, Reza F. Hormonal Influences on Cognitive Function. Malays J Med Sci. 2018 Jul;25(4):31-41. doi: 10.21315/mjms2018.25.4.3. Epub 2018 Aug 30. PMID: 30914845; PMCID: PMC6422548.

6 Skoglund C., Kopp Kallner H.,,Skalkidou A. et al. Association of attention-deficit/hyperactivity disorder with teenage birth among women and girls in Sweden. JAMA Netw Open. 2019; 2e1912463 https://doi.org/10.1001/jamanetworkopen.2019.12463

7 Lindh I., Hognert H., Milsom I. The changing pattern of contraceptive use and pregnancies in four generations of young women. Acta Obstet Gynecol Scand. 2016; 95: 1264-1272 https://doi.org/10.1111/aogs.13003

8 Kooij JS. Hormonal sensitivity of mood symptoms in women with ADHD across the lifespan. Eur Psychiatry. 2023 Jul 19;66(Suppl 1):S23. doi: 10.1192/j.eurpsy.2023.92. PMCID: PMC10417850.

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HRT, Birth Control Pill for ADHD Women: Hormone Replacement Therapy Info - ADDitude magazine

The skin is the largest organ of the human body and has a surface area of 1.52m2, covering the surface of the human body. It is in direct contact with the external environment and protects us from environmental factors1. The skin consists of three parts: the epidermis, dermis, and subcutaneous tissue, which jointly protect internal organs and perform different biological functions. The epidermis is located in the outermost layer of the body and plays a major defensive role2. The dermis is mainly responsible for the synthesis, deposition, and remodeling of the dermal extracellular matrix (ECM), which supports the structural integrity of the skin3,4. Dermal fibroblasts are the main cells in the dermis and synthesize and secrete collagen, elastin and proteoglycan to give strength and elasticity to the skin5. Subcutaneous tissue is located in the deepest layer of the skin and is rich in fat cells and blood vessels; it can support, warm, and provide nutrition for the dermis6. Skin appearance is the main factor used to evaluate age and health status. With the emergence of aging complications and the improvement in quality of life, people are highly motivated to maintain a youthful appearance. Therefore, how to prevent and delay skin aging is important for the general public, thereby stimulating the in-depth study of antiaging by researchers.

Under aging and the decline in the structure and function of skin tissue stimulated by external factors, many functional cells in skin tissue undergo senescence and apoptosis, while new cells lack the ability to self-renew. To resolve the insufficient self-renewal ability of cells in skin tissue, some researchers have proposed that skin cells can be replenished by activating stem cells in skin tissue. However, long-term activation and mobilization will lead to the depletion of stem cells in the body and the complete loss of the ability of cells in the skin to self-renew7. It has been reported that MSCs transplantation can improve skin conditions to some extent8. Therefore, exogenous supplementation of MSCs may be an effective method. The term MSCs originated from the isolation of the bone marrow in 1988 Marrow Stromal Stem Cells9, and named Mesenchymal Stem cells by A.I. Caplan in 199110, ISCT changed to Mesenchymal Stromal Cells in 200611, A.I. Caplan himself applied to ISCT in 2017 to change Mesenchymal Stem Cells to Medicinal Signaling Cells12, ISCT stated in 2019 that it was not in favor of dropping the term mesenchymal and recommended that the acronym MSC continue to be used, but with a note on the functional definition13. The naming of MSCs is still controversial, but with further research, increasing evidence suggests that the therapeutic role of MSCs is largely attributed to their paracrine function.

In this paper, we focus on the study of UC-MSCs in skin aging. On the one hand, umbilical cords are medical waste, and as a result, using them avoids the limitation of source and ethical issues14,15,16,17,18. On the other hand, the efficacy of MSCs decreases with the increase of their number of divisions, because cell division shortens telomeres and leads to cell senescence19,20. An earlier 2012 follow-up study of patients with the acute graft-versa-host disease (GVHD) treated with MSCs showed a significant increase in one-year survival (75% vs 21%) in MSCs receiving early passage (from generation 12) compared to MSC patients receiving late passage (from generation 34)21. In addition, the regenerative potential of MSCs also decreases with the age of donors22. Therefore, the UC-MSCs are isolated from neonatal tissues and seem to be younger than other sources of MSCs23. Their high activity, increased pluripotency, low immunogenicity, and suitable paracrine effects have been indicated24,25. Previous studies have shown that UC-MSCs can be induced to differentiate into various types of functional cells in vitro, such as keratinocytes and dermal fibroblasts, which provides a variety of potential strategies for the treatment of skin diseases and the development of medical beauty products26. It also made many researchers once believe that the efficacy of MSCs is mainly played by their differentiation into specific functional cells, so that the efficacy of MSCs is infinitely amplified, resulting in over-marketing of Stemcells on the market. However, subsequent studies have seen little evidence that MSCs can differentiate into specific functional cells in vivo, so it is believed that the paracrine role of MSCs is the main way to exert their therapeutic effect. This may also be the reason why A.I. Caplan applied to ISCT in 2017 to change Mesenchymal Stem Cells to Medicinal Signaling Cells.

Human skin is a dynamic and complex organ that is composed of different cell types and functional regions. Like other organs, the skin ages and is characterized by structural destruction and gradual loss of function. Aging caused by genetic, metabolic, and other internal factors is called intrinsic aging, while aging caused by environmental factors such as ultraviolet rays, nutrition, air pollution, cigarettes, temperature, and pressure is called extrinsic aging27.

For naturally aging skin, histological changes mainly occur in the basal layer and dermis. The basal layer of the skin is located in the deepest layer of the epidermis and participates in the repair and regeneration of the skin. Studies have shown that the proliferation of basal cells of the skin, such as keratinocytes and melanocytes, decreases with age, resulting in a thinning of the skin epidermis28,29. Moreover, the fibrous ECM components such as elastin, fibrin, and collagen in the dermis degenerate, the skin is dehydrated, elasticity decreases, and wrinkles appear30,31. With age, the repair ability of skin cells decreases, resulting in intrinsic skin aging.

Extrinsic aging is far more serious than endogenous aging; ultraviolet radiation (UVR) has the greatest effect, accounting for 80% of facial skin aging32. In contrast to intrinsic aging, UVR thickens the epidermis and promotes the activation of epidermal melanocytes in exposed skin, resulting in pigmentation33. UVR on the skin leads to senescence and apoptosis of skin cells by directly damaging the deoxyribonucleic Acid (DNA), Ribonucleic Acid (RNA), and protein of skin cells34. Moreover, skin cells produce free radicals and reactive oxygen species (ROS) when subjected to UVR, which causes inflammation and promotes mitochondrial membrane potential (MMP) synthesis, indirectly leading to oxidative damage and ECM degradation of skin cells35,36. Photoaging also accelerates skin aging by superimposing intrinsic aging in chronological order.

The ultimate goal of researchers efforts investigating skin aging is to find ways to slow down the rate of aging and improve quality of life by regulating the mechanisms of skin aging. At present, it has been reported that plant extracts37, antioxidants38, growth factors, and cytokines39, as well as MSCs40, can alleviate skin aging41. Since cell therapy was first proposed by Swiss doctors in 1931, the field has made a breakthrough in the research of human diseases. Skin tissue is composed of a large number of mature functional cells, progenitor cells, and a small number of stem cells. Although adult tissue stem cells are rare, they play a major role in human health. The number of adult stem cells gradually decreases after birth, so supplementation with exogenous MSCs may be an effective way to promote tissue repair and regeneration. Umbilical cord mesenchymal stromal cells (UC-MSCs) have become a more promising therapeutic method because of their powerful paracrine function and the ability to secret various cytokines, growth factors, and exogenes to promote tissue regeneration and inhibit inflammatory response. However, MSCs therapy is still in the research stage, and a large amount of experimental data is needed to accelerate its clinical transformation. As of December 2023, over 2000 MSCs clinical trials have been registered at https://clinicaltrials.gov/, including over 400 UC-MSCs clinical trials. Including UC-MSCs for Diabetic Nephropathy, Ulcerative Colitis, Oral Chronic Graft-versus-host Disease, Diabetic Foot, Skin Grafts in Donor Site Wounds, Skin Rejuvenation, Skin Ulcers, and other diseases. This large amount of data reflects the broad interest of the scientific community in the potential therapeutic applications of MSCs. However, among the many clinical trials at different stages, we have collated nine clinical trials of UC-MSCs for skin-related diseases that have been completed and have reported results (Table 1). By combing through these trials, we can gain a clearer understanding of the application of UC-MSCs in clinical practice, as well as the challenges and future directions. Clinical trials are designed to evaluate the efficacy and safety of MSCs in the treatment of various diseases, but clinical trials currently face many difficulties, including developing standardized treatment protocols, monitoring cell survival and function in vivo, and the safety and long-term efficacy of cell therapy. These problems not only increase the complexity of clinical trials, but also limit their wide application in practice. In order to solve the challenges faced by clinical trials, pre-clinical basic research is crucial to provide a reliable theoretical and experimental basis for clinical trials. In the basic research, the establishment of an ideal experimental model is the premise of further research, here we mainly introduce the skin aging research model. Aging research on animal models can simulate the complex environment of human skin aging in combination with in vitro and in vivo aging factors and relatively accurately reflect the characteristics of skin aging, but the accuracy of these results still needs to be verified at the cellular and molecular levels. Cells are the basic unit of the human body; they can be isolated and expanded in vitro under suitable conditions and can reflect the process and law of human aging at the cellular level, so they are widely used as an experimental model in vitro. In order to facilitate the work of subsequent researchers, we have listed in detail the modeling conditions of the currently widely used research models in Table 2, aiming to provide clearer and convenient guidance for future basic research. However, it is worth noting that none of these studies calculated the percentage of actual engrafted cells relative to the total implanted cells, as the actual number of engrafted cells is crucial for assessing therapeutic efficacy. Therefore, future research may need to pay more attention to and carefully consider the calculation of the actual number of engrafted cells to comprehensively understand the effectiveness and mechanisms of MSC therapy.

UC-MSCs are a kind of mesenchymal stromal cell derived from neonatal umbilical cord tissue with abundant material sources, easy amplification, strong plasticity, low immunogenicity, high migration and homing activity, exocrine secretion, and the secretion of a variety of cytokines25. Compared with other MSCs currently used in basic and clinical research, such as adipose mesenchymal stromal cells (ADMSCs), bone marrow mesenchymal stromal cells (BMSCs), dental pulp stromal cells (DPSCs), embryonic stromal cells (ASCs), and neural stem cells (NSCs); UC-MSCs are derived from a wider range of sources; have no ethical or safety challenges; are easier to obtain, expand and store; and can fully meet clinical needs42. UC-MSCs can be induced to differentiate into many types of functional cells in vitro, which is of great significance for the clinical treatment of corresponding diseases. UC-MSCs have been used in the study of cardiovascular disease43, inflammatory bowel disease (IBD)44, chronic obstructive pneumonia (COPD)45, premature ovarian failure (POF)46, skin aging23, and other diseases, and their effectiveness has been proven. This paper mainly summarizes the research progress of UC-MSCs in skin aging. The mechanism of UC-MSCs in the treatment of skin aging can be summarized as promoting injury repair and skin regeneration through anti-inflammatory, antioxidative, and anti-glycosylation mechanisms, as shown in Fig. 1.

The skin shows structural and functional degradation under the action of internal and external factors, and UC-MSCs rejuvenate it by promoting injury repair and regeneration through anti-inflammatory, antioxidative, and anti-glycosylation mechanisms.

Skin tissue integrity, function, and regeneration decrease with age. An increasing number of studies have reported that UC-MSCs can promote the repair of damaged skin through the secretion of cytokines. The homing property of UC-MSCs is the key to their direct participation in the repair of skin injury. Many animal experiments have confirmed that when there is injury in the body, transplanted UC-MSCs can migrate to the injured site, differentiate, and replace injured cells using the chemotaxis of the injured tissue microenvironment47,48,49. However, with the deepening of the research, the view that MSCs differentiate and replace injured cells is no longer supported. After the importation of MSCs into the body, the amount of MSCs in the body is very small (<1%), suggesting that the repair of injuries may primarily involve the paracrine functions of MSCs (Table 3).

To study the role and fate of transfused MSCs, Yins research team explored the fate of type 2 diabetes (T2DM) mice intravenously injected with UC-MSCs compared with that in control mice. This study showed that UC-MSCs first reached the lungs and then migrated through the circulatory system to the spleen and liver. Compared with the control mice, the T2DM mice injected with UC-MSCs showed that the UC-MSCs homed to the islets. UC-MSC infusion not only effectively restored blood glucose homeostasis and reduced insulin resistance in mice but also improved hyperlipidemia and liver function in T2DM mice, suggesting that UC-MSC migration is closely related to tissue injury and can participate in tissue repair50. Zhang et al.51 applied UC-MSCs and UC-MSC-CM locally to the skin wounds of diabetic mice to study their therapeutic effects on wound healing. The results showed that UC-MSCs and UC-MSC-CM significantly increased the overall wound healing rate, improved angiogenesis, and increased the percentage of M2 macrophages in the wound area. Further observation of the local microenvironment of the wound tissue showed that the secreted levels of the anti-inflammatory factors IL-10 and VEGF increased, while the secreted levels of the proinflammatory factors TNF- and IL-6 were inhibited. It is suggested that UC-MSCs can play a role in injury repair by improving angiogenesis and regulating the local tissue microenvironment.

Repair and regeneration are often mistaken for the same concept. In fact, repair mainly refers to the recovery of tissue structure and function. In the context of skin, repair indicates that it may have scars and may not have hair follicles. Regeneration essentially refers to achieving a completely normal state through the proliferation of cells in skin tissue52. UC-MSCs can secrete and synthesize a variety of cytokines that promote cell growth and differentiation to regulate the local microenvironment, including FGF, EGF, VEGF, NGF, PDGF, CSF, and TNF53. These cytokines carry signaling information that can regenerate blood vessels, improve blood circulation, and promote tissue regeneration.

After skin injury model rats were treated with UCBMSC-exo and UCBMSCs, the skin appendages, blood vessels, and nerves were regenerated, the wound closure rate was significantly accelerated, and scarring was reduced54. Li et al.23 used an aging nude mouse model and HDF model to prove that UC-MSCs can increase the thickness of aging skin and the production of matrix collagen fibers, increase the proliferation and migration of human dermal fibroblasts (HDFs), and promote skin regeneration. In addition, an interesting study showed that UC-MSCs can also be used as carriers for gene transfer and drug delivery to enhance the expression of the target gene and can interact with cytokines to change the secretion level to enhance regeneration. The Wnt protein is the key mediator of skin development. Researchers obtained conditioned medium (Wnt-CM) containing Wnt7a from the supernatant of UC-MSCs overexpressing Wnt7a and injected it into the wounds of mice. It was found that the supernatant promoted wound healing, induced hair follicle regeneration, and enhanced the expression of the ECM and the migration of fibroblasts55.

Inflammation is a pathophysiological reaction after tissue injury and a protective defense response of tissues and organs to harmful stimuli. A certain degree of inflammation is beneficial, but excessive inflammation can lead to local tissue cell necrosis and dysfunction, and persistent chronic inflammation can hinder the growth or regeneration of functional cells in tissue56,57. Moreover, the human body is always exposed to various stimuli, and long-term inflammatory stimulation eventually leads to the degeneration of the structure and function of tissues and organs. Therefore, the reduction in inflammatory reactions may be beneficial to the regeneration of tissues and organs. Experiments showed that the gradual accumulation of senescent cells in the body increased the release of proinflammatory factors such as IL-6, IL-8, and TNF- and further promoted the occurrence of senescence58. Photoaging is the main form of skin aging. Long-term exposure to UVR accelerates the aging of skin under the action of inflammatory cells and proinflammatory cytokines59.

UC-MSCs exert their anti-inflammatory effect mainly by secreting cytokines, growth factors, anti-inflammatory factors, and exocrine factors to reduce the inflammatory response and enhance tissue repair. They can also directly interact with the surface molecules of immune cells and regulate the downstream pathways of immune cells, thus affecting cell proliferation, effector production, and cell survival60. Several Korean researchers have used antibody arrays to evaluate the concentrations of growth factors and cytokines in UC-MSC-CM. The results showed that UC-MSC-CM contained high concentrations of anti-inflammatory-related growth factors and cytokines, including EGF, TIMP-1, IGFBP-7, thrombin reactive protein-1, fibrinogen, and fibronectin61. The authors further tested the anti-inflammatory activity of UC-MSCs-CM on HaCaT cells stimulated with TNF- and INF-. The results showed that UC-MSC-CM had an inhibitory effect on the inflammatory cytokines TARC, TNF-, IL-1, and IL-6 and suggested that UC-MSC-CM had an anti-inflammatory effect. Li et al.62 confirmed that UCMSC treatment can reduce the expression levels of the proinflammatory cytokines TNF-, IL-1, and IL-6 in an LPS-induced rat model and concluded that UCMSC treatment can reduce systemic inflammation associated with LPS.

We know that continuous inflammation stimulates tissue fibroplasia, leading to tissue and organ fibrosis. Liu et al.63 used a rat model of renal interstitial fibrosis to evaluate the effect of UCMSC-CM on tubulointerstitial inflammation and fibrosis. The results showed that UCMSC-CM reduced the deposition of ECM, the infiltration of inflammatory cells, and the release of inflammatory factors in renal fibrosis by inhibiting the activation of the TLR4/NFB signaling pathway. Chens team64 injected UC-MSCs subcutaneously into psoriatic arthritis model mice and found that UC-MSCs inhibited skin inflammation and significantly ameliorated the pathological features of mice.

Oxidation is a process in which substances are decomposed to release energy and take place in the body regularly. When the body is in a normal physiological state, the oxidation capacity and antioxidant capacity are in dynamic balance. Once the production of free radicals (such as ROS) exceeds the bodys antioxidant capacity, the redox state is out of balance, and oxidative stress is induced65,66. Oxidative stress is accompanied by the processes of cell injury, inflammation, and metabolic disorders, which are involved in the pathology of many diseases and are considered to be the cause of aging. It has been reported that excessive ROS can directly oxidize DNA, proteins, and lipids, resulting in DNA damage, mitochondrial damage, protein damage, cell senescence, and even death67,68,69. According to the theory of free radical aging, ROS are mainly produced as a result of cell metabolism dysfunction and UVR; are generated by the mitochondrial electron transport chain, peroxisomes, and endoplasmic reticulum; and play a major role in skin aging70. ROS can activate the MAPK signaling pathway through a series of intermediates to promote the production of MMPs. MMPs can degrade collagen and elastin, resulting in increased and deepened skin wrinkles and a lack of elasticity71. ROS and the activated MAPK signaling pathway can also activate NFB, mediate the expression of inflammatory cytokines, further promote the production of ROS, and accelerate skin aging72,73.

There are few reports on the antioxidant effect of UC-MSCs on skin aging. Some scholars believe that UC-MSCs can directly alleviate mitochondrial dysfunction, thus blocking the production of more free radicals from dysfunctional mitochondria that accelerate aging, but the specific mechanism is not clear74. However, an increasing number of researchers have observed the antioxidant stress effect of UC-MSCs in aging animal models. Recently, it was reported that after UCMSC treatment of D-galactose-induced skin aging model nude mice, the levels of superoxide dismutase (SOD) in skin tissue increased significantly, while the levels of malondialdehyde decreased significantly, essentially returning to normal levels23. It is suggested that UCMSC treatment can enhance the ability of cells to scavenge free radicals, improve the antioxidant stress function of skin, and play a positive role in reducing cell senescence caused by oxidative stress. However, while the antioxidant effects of UCMSC treatment have been observed, the underlying mechanism is still not completely clear. Some scholars believe that UC-MSCs play an antioxidant stress role by directly scavenging free radicals, secreting bioactive enzymes, and regulating the function of mitochondria, but there is insufficient evidence75.

Advanced glycation end products (AGEs) are the products of nonenzymatic glycosylation and oxidation of proteins and lipids, which accumulate in inflammatory environments and during aging. The accumulated AGEs easily interact with collagen fibers in the dermis to produce glycosylated collagen in the body. The structural changes of glycosylated collagen increase skin fragility and decrease skin strength so that its biological function is reduced76,77. A new study showed that UC-MSCs can protect fibroblasts from AGE cytotoxicity by secreting cytokines and activating the PI3K/AKT/PTEN pathway78.

Senile diabetes is a very common chronic disease related to aging. The difficulty of healing skin wounds in patients with diabetes is a problem that urgently needs to be solved78. An in-depth study of the pathogenesis of diabetic dermatopathy found the root cause of diabetic wound formation and healing difficulty to be the accumulation of AGEs in the dermis. However, to date, only a few effective methods can inhibit and remove AGEs in wounds, and the emergence of MSCs therapy brings great hope to these diabetic patients79,80,81,82. Many researchers have studied the promoting effect of mesenchymal stromal cells from different sources on diabetic wound healing. The results show that BMSCs and UC-MSCs can effectively promote diabetic skin wound healing83,84.

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Role of umbilical cord mesenchymal stromal cells in skin rejuvenation | npj Regenerative Medicine - Nature.com

Among cardiologists, its known that transthyretin cardiac amyloidosis, a type of heart disease, is caused by the misfolding of a protein called transthyretin, which builds up in the walls of the heart, causing the muscle to get thicker and stiffer. One reason this can happen is because of a genetic mutation caused by the gene variant V142I, which is commonly found in people of West African descent. In a new study published Sunday in the Journal of the American Medical Association, researchers found that the 3%-4% of self-identified Black individuals carrying this variant had an increased risk for heart failure and death.

Heart failure affects African Americans at nearly twice the rate that it affects white people in the U.S. and the reason may in part be due to ancestry, not race. But even though the link between V142I and heart failure is well known, researchers did not know how the variant affects peoples risk of heart failure and its association with preserved heart function. Previously, researchers would study patients who already had the disease and came in for treatment. In this study, researchers from Brigham and Womens Hospital and Duke University School of Medicine looked at the natural history of the disease by drawing on data from four National Institutes of Health-funded studies in the U.S. Their findings suggest an opportunity to provide more genetic counseling and screening for African Americans.

Notably, these studies were not designed to look at amyloid heart disease specifically, but to obtain genotyping data in healthy women and individuals with various risk factors, such as stroke and atherosclerosis.

It would inform us and clinicians and patients regarding the likelihood that an individual at a given time in their life who has this genetic mutation might develop this disease. And the reason thats becoming more important is that there are now some therapies that are available for the first time, really only in the last few years, that are available for amyloid heart disease, said Scott Solomon, senior author of the paper and professor of medicine at Brigham and Womens Hospital and Harvard Medical School.

Using this large dataset, the researchers analyzed data from 23,338 self-reported Black individuals, out of whom 754, or a little over 3% of them, carried the V142I variant. They found that the genetic variant increased the risk for heart failure hospitalization by age 63 and the risk of death by age 72.

Thats earlier than we thought, said Senthil Selvaraj, the papers first author and an advanced heart failure physician-scientist at Duke University School of Medicine. Previously, researchers had thought that risk of hospitalization occurred in the 70s.

He added that they found that men and women also have a similar risk for disease, which suggests that women are fairly likely to be underdiagnosed with this form of amyloid heart disease. Women in general tend to have less thick walls, which means that even though amyloid heart disease thickens the walls, it could still be missed. The researchers also were unable to determine, among people who had the variant, whether they were hospitalized because of the condition or some other risk factor or combination of risk factors, such as high blood pressure or diabetes.

The researchers also looked at the burden this mutation has on a persons life span. On average, people who carry the variant live two to two and a half years less than a non-carrier. Approximately 13 million Black Americans are over the age of 50, and the researchers estimated that nearly half a million people over 50 are carriers of the variant. This means that the contemporary population of Black Americans will live about a million fewer years due to the variant, Selvaraj said. That might even be a conservative estimate, according to the editorial published with the study written by Clyde Yancy, professor and chief of cardiology at Northwestern University Feinberg School and Medicine and deputy editor for JAMA Cardiology.

Yet the implications for screening and genetic counseling are not obvious. While this variant is found in people with West African ancestry, the increased risk of heart failure and death does not only affect people who self-identify as Black.

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This kind of work is incredibly important, because we have to accept the evident truth that we as scientists understand: Race does not infer biology. Period. Hard stop. No modifiers, no adjectives. Race is a social variable, and relates to culturation, it relates to experiences, but does not infer biology. Period, Yancy told STAT. The color of your skin does not protect you from having this variant. He gave an example of a delightful white patient under his care who is currently being treated for amyloid heart disease and has the V1421 gene.

Selvaraj acknowledged that since the variant is found in people with West African ancestry, this is a global disease and people with various ethnic backgrounds may carry the variant as well.

Its impossible to know the worldwide burden of disease, but, in some ways, this is sort of the tip of the iceberg, Selvaraj said.

I think it was a well-done study, said Evan Kransdorf, an assistant professor of cardiology and a member of the cardiogenetics team at Cedars-Sinai in Los Angeles, who was not part of the study. Besides increasing screening, he said theres also an opportunity to pursue other areas of research. We would like to know how treatment would affect and modify the outcome, but obviously, that is a whole different study and can be difficult because in the last few years theres been a lot of rapid advancements in the field in the treatment of amyloidosis. One treatment is the drug tafamidis, which prevents the misfolding of the protein transthyretin. A gene-editing therapy is currently in clinical trials.

Yancy, who wrote one of the two editorials accompanying this study, saidits the presence of the V1421 gene itself that gives reason to heighten surveillance not because of race, but because of detectable genetic risk variables. Screening for the mutations should be made available for all people with a suitable disease phenotype, he argued in his editorial. This would be a similar practice to the race-agnostic screening for APOL1 in kidney disease.

We have to figure out, how do we get a reluctant patient cohort to agree to this kind of sophisticated genetic screening? First, that is counseling, and then the genetic testing, and how do we pay for it? he said. According to Yancys editorial, outside of commercial payers, patients on Medicare are only able to get cancer screenings, and Medicaid in most states does not cover genetic testing. It could be that these kinds of conversations will encourage CMS to revisit coverage decisions, wouldnt that be a really wonderful outcome? Yancy said.

In order to convince a reluctant patient, Kransdorf said that education is important. I say Hey, theres an 80% chance that Im not going to be giving you any useful information, but theres a 20% chance Im going to be giving you very useful information. Keeping that information in mind, a patient can decide on whether the odds are worth possibly confirming a genetic link to their disease.

As science moves toward race-agnostic research, Kransdorf believes that focusing on genetics will be a big component to developing individualized or precision medicine. Obviously, were not quite there yet, but I think maybe in five or 10 years, well be starting to get there. He added robust genetic testing should pave the way. Actual testing will be able to give us much more precise abilities to diagnose and potentially treat people. I think that we will be able to use genetic information to get past these kind of crude estimates.

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Study: People of West African ancestry at greater risk of cardiac amyloidosis - STAT

ROCHESTER, N.Y. There is an effort to catch the attention of younger women about the importance of screening for cancer and to let them know that some women under the age of 40 may want to learn about genetic testing.

The whole purpose of doing genetic testing is not to scare people, its to arm them with information, said certified genetic counselor Jessica Salamone of Elizabeth Wende Breast Care.

Visitors there may receive multiple layers of screening including genetic testing.

The whole purpose of cancer screening and a risk assessment program like ours is to save lives, is to make diagnosis that arereallysort of minimal stage, said Salamone.

Breast cancer screening guidelines recently changed recommending women receive a mammogram at age 40 rather than 50 and every other year. The leaders at EWBC, leading radiologistsandother health experts say women as young as 25 years old should have a risk assessment.

So we identify that your family history of breast cancer may be indicative for the patient and then it may be indicative of other cancers that we need to be screening and testing for, said Salamone.

The risk assessment takes a look at all of the patients risk factors with a deep dive into family history.

Theres a percentage of cancer that can be traced back to a genetic mutation and so knowing your family history is key," Salamone said. "Paying attention and learning what happened to the men and women above you sort of in your pedigree in your family line isreallyimportant."

She says being at risk for one cancer could mean you are at risk for others.

In genetics, the fancy term is called variable expression," Salamone said. "The same gene can cause a variety of cancers. And so, somebody like me sits down, interviews my patient and looks through the generations of cancer.

It may be the last thing a 25-year-old is thinking about.

Young women may not know what guideline to follow," Salamone said. "Young women may not know exactly when to begin. They often rely on their physician to tell them."

EWBC is hosting a virtual seminar on Thursday at 6 p.m.in an effort toreach out to those younger women who should start thinking and talking about screening and testing potentially in their 20s and 30s.

I would encourage people who are nervous or a little scared to just come and have the conversation," Salamone said. "No ones going to say you have to do this. Anybody in my role is going to say, how can I align and partner with you to help avoid something thats been generational in your family and how can we help you live a long healthy life and be around for those future generations."

You can visitEWBC.comto learn more about the workshop.

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Catching and preventing cancer in younger women - Spectrum News

In the rapidly evolving landscape of healthcare, the expansion of genetic testing stands out as a monumental leap forward. The field of genetic testing has grown exponentially over the past decade, with available tests skyrocketing from 10,000 in 2012 to over 175,000 today a staggering 1650% increase with an estimated ten new tests introduced daily. And as the link between genetics and diseases is better understood, genetic testing is being applied across new specialties. While this diagnostics revolution holds immense potential to transform personalized medicine through early risk detection and personalized treatment plans, it also presents significant challenges particularly around payment accuracy.

Current challenges faced by health plans

While the use of genetic testing surges, health plans grapple with challenges influencing appropriate spending, administrative costs, and operational efficiency. Some key issues include:

As health plans struggle to keep pace with advancements in genetic testing, there is a pressing need for solutions to streamline processes, improve accuracy, and reduce administrative waste.

The power of strategic partnerships and specialized expertise

To address genetic testing claims complexity, as well as aligning payment with appropriate rules and reimbursement methodology, health plans are increasingly partnering with specialized companies with applied expertise in this domain. These collaborations aim to bridge the gap between clinical knowledge and administrative processes, enabling payers to better navigate the intricacies of payment accuracy related to genetic testing.

By leveraging the capabilities of specialized partners, health plans can access technologies such as AI-powered claims editing systems, which can identify and correct coding errors, detect potential fraud, and ensure compliance with evidence-based policies and guidelines. These solutions not only improve payment accuracy but also reduce the manual review burden on health plan staff.

Strategic partnerships also can help health plans stay ahead of the curve on policy development and provider education. Specialized companies often have dedicated clinical teams that continuously monitor the latest advancements and translate this knowledge into actionable insights. This includes developing policies around genetic testing administration and educating on test ordering and claim submission best practices.

Recommended solutions for health plans

To better manage genetic testing claims and improve overall outcomes, health plans should consider the following recommendations:

Collaboration, transparency, and innovation

The key to success lies in fostering a collaborative ecosystem that prioritizes transparency, education, and innovation. Health plans, partners, and providers must work together to ensure that the benefits of genetic testing are realized while maintaining payment integrity, which ultimately benefits patients by giving them a clear understanding of not only of their clinical situation, but their financial obligation.

This collaboration should focus on developing clear, evidence-based policies for coverage and reimbursement: Investing in solutions to automate claims processing and fraud detection, educating providers, and ensuring transparency among all stakeholders.

By embracing strategic partnerships and innovative solutions, health plans can manage the complexities of genetic testing claims while unlocking the immense potential of precision medicine to improve patient outcomes and drive healthcare transformation.

Photo by Flickr user Petra B. Fritz

Brian Berkowitz is the vice president of strategy & corporate development at Lyric, a health tech company dedicated to helping simplify the business of care. He leverages his deep, proven healthcare domain expertise and dynamic problem-solving skills to catalyze growth for the organization, which helps improve payment accuracy and integrity for eight of the nine top payers and many health plans covering more than 185 million individuals.

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Navigating the Complexities of Payment for Genetic Testing - MedCity News

According to recent study by nova one advisor, the U.S. next generation sequencing market size was estimated at USD 4.10 billion in 2023 and is expected to be worth around USD 25.71 billion by 2033 with a CAGR of 20.15% from 2024 to 2033.

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The rise in the prevalence of chronic diseases like cancer and the necessity for early diagnosis are among the factors contributing to the expansion, along with technological advancements and the growing need for individualized therapy. The growing number of partnerships and joint ventures between industry participants, as well as increased investment, are anticipated to positively affect market expansion. For example, in September 2023, the clinical-stage biotech business Neuron23, based in the United States, teamed up with QIAGEN to develop an additional diagnostic tool for Neuron23's LRRK2 inhibitor, which is meant to treat Parkinson's disease. The assay utilized in this cooperation is incorporated into an NGS workflow, which leverages QIAGEN's Sample to Insight capabilities.

The U.S. government's sponsorship of numerous programs has contributed significantly to the growth of the NGS business. Funding for public health projects, such as genetic surveillance programs, is provided by the CDC. The American Rescue Plan set aside USD 1.7 billion in September 2022 to fund current and future genome surveillance initiatives. There is USD 90 million allotted to maintaining the Pathogen Genomics Centers of Excellence network for the next five years, out of the USD 400 million allotted for innovation. The use of NGS in public health laboratories is made possible by CDC funding, which improves these facilities' abilities to identify, characterize, and respond to pathogens.

Furthermore, a significant amount of funding for biomedical research, particularly initiatives pertaining to NGS and genomes, is provided by the NIH. NGS technologies are used by researchers and institutions that get NIH grants to investigate different diseases, comprehend genetic components, and create personalized medical strategies. This funding encourages innovation and technological improvement in the NGS sector by supporting basic research and translational projects. 2018 saw the launch of the NIH-funded Somatic Cell Genome Editing program, which aims to remove barriers to the clinical use of genome editing techniques for the treatment of various illnesses. The NIH Common Fund provides support for this project.

In addition, the rising incidence of cancer in the United States is anticipated to bolster the expansion of the NGS market. According to the American Cancer Society's projections, there would be 611,720 cancer-related fatalities and 2,001,140 new cancer cases in the United States by 2024. In oncology, NGS is widely used for tumor profiling, genetic mutation identification, and therapy response prediction. The development of targeted therapeutics and the molecular characterization of tumors are two key applications of cancer genomics that are propelling the NGS market.

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Key Takeaways:

Next Generation Sequencing Market Size in the global 2024 to 2033

The global next generation sequencing market in terms of revenue was estimated to be worth USD 9.19 billion in 2023 and is poised to reach USD 66.04 billion by 2033, growing at a CAGR of 21.8% from 2024 to 2033,North America dominated the NGS market with a share of 49.35% in 2023.

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What Are Next Generation Sequencing Used For?

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Segments Insights:

Technology Insights

The targeted sequencing and resequencing segment held the largest revenue share of 71.15% in 2023 and is expected to witness the fastest CAGR over the forecast period. Targeted sequencing and resequencing technologies are mainly adopted for clinical applications, such as cancer diagnostics, prenatal testing, and genetic disease screening. The ability to analyze specific genomic areas makes these technologies accurately and efficiently well-suited for clinical use, driving their widespread adoption in the healthcare industry. In addition, advances in targeted sequencing and resequencing technologies have led to increased sequencing throughput, allowing researchers to analyze larger numbers of samples simultaneously. This increased throughput enables more efficient study designs and accelerates the pace of research.

The whole genome sequencing (WGS) segment is anticipated to witness significant growth by 2033 due to the increasing adoption of precision medicine and personalized healthcare. With advancements in WGS technology, it has become possible to sequence an individual's entire genome, providing valuable insights into genetic variations and potential disease risks. This has led to the development of targeted therapies and personalized treatment plans, which can improve patient outcomes and reduce healthcare costs. Additionally, the decreasing costs of WGS and the increasing availability of sequencing services have made it more accessible to researchers and clinicians, further driving the growth of this segment.

Product Insights

The consumables segment accounted for the larger revenue share in 2023 and it is anticipated to grow at the fastest CAGR of 21.06% over the forecast period. The dominance can be attributed to the high demand for sequencing reagents, kits, and other consumables required for NGS procedures. As NGS technologies are more widely adopted in research and clinical settings, the demand for consumables is expected to continue to increase. In addition, advancements in sequencing technologies are resulting in new applications and workflows, which is further driving the demand for new and innovative consumables.

The platforms segment is expected to witness significant growth from 2024 to 2033, due to the increasing demand for better and more advanced sequencing platforms. Several companies are investing heavily in the development of new and innovative platforms that can provide faster and more accurate sequencing results. For instance, in April 2022, Thermo Fisher Scientific introduced the Ion Torrent Genexus Dx Integrated Sequencer. It is a CE-IVD marked and automated NGS platform designed to provide results within a single day. These trends are expected to continue in the coming years, driving further growth in the platform product segment.

Workflow Insights

In 2023, the sequencing segment held the largest market share of 57.63%. Sequencing workflow involves a comprehensive process of sequencing, which is critical for obtaining accurate and reliable results. It includes numerous steps, such as sample preparation, sequencing, and data analysis. The market for sequencing workflow is expected to grow further in the coming years as the demand for NGS-based research and clinical applications continues to increase.

The NGS data analysis segment is expected to grow at the highest CAGR over the forecast period, due to the increasing demand for efficient and accurate analysis of genomic data. With the growing adoption of NGS technology in various applications such as drug discovery, clinical diagnostics, and personalized medicine, the demand for NGS data analysis is expected to rise. Additionally, the availability of advanced software and tools for NGS data analysis is also contributing to the growth of this segment.

Application Insights

In 2023, the oncology segment held the largest market share of 26.69%, due to the increasing prevalence of cancer in the country. NGS technology has revolutionized cancer diagnosis and treatment by allowing for more accurate and comprehensive genomic analysis of tumors, leading to personalized and targeted therapies. Additionally, ongoing research and development in the field of oncology is driving the demand for NGS applications in this area.

The consumer genomics segment is expected to grow at the highest CAGR of 22.77% during the forecast period. There is a growing interest among consumers in learning about their genetic makeup, ancestry, and predisposition to certain health conditions. Direct-to-consumer (DTC) genetic testing companies offer affordable and convenient NGS-based DNA testing kits that provide consumers with insights into their genetic traits, ancestry, and potential health risks. This increasing consumer interest is expected to drive the demand for consumer genomics applications. Technological advancements in NGS have led to a significant reduction in the cost of sequencing, making it more accessible to consumers. As the cost of sequencing continues to decline and the efficiency of NGS platforms improves, consumer genomics companies can offer more comprehensive and affordable genetic testing services, further fueling market growth.

End-use Insights

In 2023, academic research held the largest market share of 50.59%. Academic institutions are at the forefront of genomic research and innovation. Researchers in academia are driven by interest and the purpose of knowledge, leading them to explore diverse areas of genomics using NGS technology. Their pioneering work drives the development of new sequencing methodologies, data analysis techniques, and applications, shaping the direction of the entire field. Government funding agencies, private foundations, and research grants often support academic research. These funding sources provide financial support for purchasing NGS equipment, reagents, and computational resources necessary for conducting genomic studies. The availability of funding enables academic researchers to invest in NGS technology and infrastructure, contributing to the growth of the market.

The clinical research segment is expected to grow at the highest CAGR of 22.85% from 2024 to 2033. Regulatory agencies such as the U.S. Food and Drug Administration (FDA) have approved several NGS-based tests and assays for clinical use, particularly in oncology and infectious diseases. The establishment of regulatory frameworks and guidelines for NGS-based diagnostics has increased confidence in the reliability and accuracy of genomic testing, facilitating the adoption of NGS technology in clinical research. As regulatory approvals for NGS-based tests continue to expand across different therapeutic areas, the demand for NGS in clinical research is expected to grow.

Recent Developments

Key U.S. Next Generation Sequencing Companies:

Segments Covered in the Report

This report forecasts revenue growth at country levels and provides an analysis of the latest industry trends in each of the sub-segments from 2021 to 2033. For this study, Nova one advisor, Inc. has segmented the U.S. Next Generation Sequencing market.

By Technology

By Product

By Application

By Workflow

By End-use

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U.S. Next Generation Sequencing Market Size to Worth USD 25.71 Bn by 2033 - BioSpace

Background

American Society of Breast Surgeons (ASBrS) consensus guidelines recommend genetic testing be available to all patients with a personal history of breast cancer, with the National Comprehensive Cancer Network allowing for multigene panel testing beyond the most common pathogenic variants of breast cancer. Genetic counseling is typically provided by breast surgeons or genetic counselors. However, there are no formal recommendations for the breadth of genes to be tested.

The ASBrS asserts genetic testing should occur in the context of informed consent. In this context, the breadth of genetic testing should be decided by the patient following pretest counseling.

Choice architecture posits that decisions are influenced by how choices are presented. Depending on the bias of the choice architect, be it surgeon or genetic counselor, there may be differences in the size of panels ordered for which there should be none.

Breast surgeons (n=4) and genetic counselors (n= 5) with more than 50 genetic test orders among the breast cancer population within a 7-hospital system were audited over a 3-year period (n=3912 tests). The median number of genes ordered was used to create order categories: less than median vs at least median. Chi-square analyses were used to compare the relationships between order category and clinician as well as order category and clinicians role.

Genetic Tests Ordered by Breast Surgeons and Genetic Counselors

The median number of genes tested was 48 (IQR, 32-85). There were significant differences in the proportion of orders above the median among the 4 breast surgeons (P<.001) as well as among the 5 genetic counselors (P<.001). In contrast, there was no difference in the proportion of orders above the median between the 2 clinician groups (P=.50).

These data lack propensity-matching of the breast cancer populations, yet there is significant anchoring in 5 of 9 clinicians, where greater than 90% of their panels are either greater or fewer than the median. This suggests a wide variation in the pretest counseling provided among both breast surgeons and genetic counselors. The differences in ordering panels indicates further research and guidelines may be warranted in this rapidly evolving component of the care of patients with breast cancer.

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63 Choice Architecture Bias in Genetic Counseling of Breast Cancer Patients - Cancer Network

Genetic Testing Market Overview

According to the report, the global genetic testing market was valued for$15.5 Billionin 2022 and is estimated to reach$40.9 Billionby 2032, exhibiting a CAGR of 10.2% from 2023 to 2032.

CAGR: 10.2% Current Market Size: USD 40.9 Billion Forecast Growing Region: APAC Largest Market: North America Projection Time: 2023- 2032 Base Year: 2023

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Genetic Testing Market Drivers

The increasing prevalence of genetic disorders like Down syndrome, sickle cell disease, phenylketonuria, and others, along with the rising adoption of genetic testing for cancer diagnosis, is expected to drive market growth. However, the high costs associated with genetic tests may impede market expansion. Conversely, the market is expected to witness growth due to the significant presence of manufacturers producing genetic testing devices and growing public awareness about the benefits of genetic testing during the forecast period.

The molecular testing segment to maintain its leadership status throughout the forecast period.

In 2022, the molecular testing segment dominated the global genetic testing market, capturing over half of the revenue, and is expected to remain at the forefront throughout the forecast period. This is primarily due to the widespread adoption of molecular testing for diagnosing genetic diseases. Conversely, the cytogenetic testing segment is forecasted to achieve a notable compound annual growth rate (CAGR) of 10.8% from 2023 to 2032.

North Americato maintain its dominance by 2032.

In 2022, North America led the global genetic testing market in revenue, capturing over two-fifths of the total revenue. This is attributed to the significant presence of genetic testing device manufacturers in the region and the increasing prevalence of chronic diseases such as cancer that require genetic testing.

However, the Asia-Pacific region is anticipated to experience the fastest compound annual growth rate (CAGR) of 10.9% from 2023 to 2032, likely becoming the dominant market during the forecast period. This growth can be attributed to the rising population affected by cancer and the growing awareness of genetic testing in the region.

Leading Market Players:

Recent Developments in the Genetic Testing Market

In November 2022, Myriad Genetics, Inc., a leader in genetic testing and precision medicine, announced that it has acquired Gateway Genomics, LLC, a personal genomics company and developer of consumer genetic tests including the No. 1 selling SneakPeek Early Gender DNA Test. SneakPeek reveals a babys gender at six weeks into pregnancy, the only at-home test to do so with 99% accuracy and the earliest method available.

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Genetic Testing Market to Generate USD 40.9 Billion by 2032, 10.2% (CAGR ) Annual Growth Predicted D - PharmiWeb.com

Ever wondered which breed your dog really is or how your cat's dental health is going? Wonder no more thanks to these great deals on pet DNA kits during the last day of Amazon Pet Day.

Best pet DNA kits at Amazon Pet Day

Best pet DNA kit for dogs

Best dog DNA kit for fast results

Best dog DNA kit for locating relatives

Knowing your dog or cat's genetic makeup might initially seem like just scratching a curiosity itch, but the knowledge they reveal can be useful. Genetic testing for your pets can give you insights into their behavior, common health issues of their specific breed, and introduce you to their relatives. If any of this piques your interest, Amazon Pet Day has some great deals on pet DNA kits for both cats and dogs.

Hurry to grab these deals because Amazon Pet Day ends tonight at 11:59 p.m. PT.

Here are the best pet DNA kit deals we've found so far:

The AncestryDNA dog breed identification kit is simple to use: collect a saliva sample, pack it up, and send it off. In about two to six weeks, you'll get detailed online results that give specifics about your dog's genetic makeup. Ancestry will list which breed (or breeds) are present in your dog with percentages of each. These details can help explain not only physical characteristics but personality traits and common behaviors, too.

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While swabbing your cat's gums and teeth might not sound like the best day ever, the results are worth the effort. The Basepaws cat DNA test comes back with results that'll indicate your cat's breed (or breeds), as well as common traits. Basepaws scans for over 21 breeds and 25 genetic traits.

Another benefit is the medical read-out that comes with the analysis. Basepaws screens for over 40 genetic diseases and gives you an oral health report. Both of these elements can help with early detection of potential future health issues and clue you in on the mouth health of your pet.

With a return time between two and four weeks, the Embark Breed & Health dog DNA test can be a great option if you're looking for fast results. Embark developed the test in partnership with Cornell University College of Veterinary Medicine to use research-grade genotyping. The test scans for relations to over 350 dog breeds and even includes dingoes, coyotes, and wolves.

The DNA test also looks at over 250 genetic health conditions to help you and your vet better care for your dog's needs. And if you have questions about the results, check in with one of Embark's vets or genetic experts.

Finding out a distant cousin lives in Paris can be a pretty exciting discovery. Finding your dog's sibling lives one town over is arguably even more exciting. The Wisdom Panel Breed Discovery dog DNA kit scans a large breed database and then allows you to see photos, compare genetic testing results, and even send messages (imagine the playdate possibilities). Wisdom Panel says the company has found relative matches for over 99.9% of the 3 million dogs they've tested.

The test also gives a clear breakdown of breeds present and tests for medical sensitivities, which can let you know if your dog is more likely to have a reaction to certain medications.

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Save up to $60 on a pet DNA kit during the final hours of Amazon Pet Day - Mashable

Pictured: 3D illustration of the CRISPR-Cas9 system editing a stretch of DNA/iStock,Meletios Verras

Excision BioTherapeutics attempt to use a CRISPR-based gene editing therapy to cure HIV has failed an early-stage study, according to several media reports on Friday.

Results from the Phase I trial of five patients showed that Excisions CRISPR therapeutic did not strongly suppress the HIV virus. Three patients who were taken off of antiretroviral therapy soon developed viral rebound and needed to resume conventional treatments, according to reporting by STAT News.

Still, Excisions approach did show signs of promise. One patient was able to keep the virus at bay for 16 weeks after stopping antiretroviral treatment before rebounding. Typically, HIV levels resurge after around four weeks. The experimental CRISPR treatment also appears to have lowered the number of infected cells in this patient, according to STAT.

In response to the disappointing outcome, CEO Daniel Dornbusch told STAT that Excision is encouraged by the safety data in the Phase I study, which suggests that in-vivo CRISPR can be done in a safe way in humans. The company will use these findings to work on a new gene editing candidate that it can apply to other chronic viral infections, such as herpes and hepatitis B.

According to its website, Excisions lead candidate is EBT-101, a CRISPR-based gene editor that works by cutting out the HIV pro-viral DNA from all infected cells. The candidate is delivered via an AAV9 vector and uses two guide RNAs that can home in on three target sites in the HIV genome, minimizing the likelihood of viral escape.

The company is positioning EBT-101 as a potentially curative treatment for chronic HIV and is rapidly advancing toward clinical trials.

In October 2023, Excision released safety data from its first-in-human Phase I/II study of EBT-101, showing that there were no serious adverse events or dose-limiting toxicities in all three patients that had been dosed with the gene editor at the time. The study found four mild toxicities that could be potentially related to EBT-101, though all were resolved without intervention.

The early data also showed that EBT-101 was present at detectable levels in the blood four weeks after treatment.

In addition to targeting HIV, Excision is also leveraging its proprietary CRISPR-based gene-editing platform against herpes 1 and 2, for which it is advancing EBT-104, and hepatitis B, for which it is developing EBT-107.

Several biotech companies have responded to the HIV crisis, including industry powerhouses Gilead and GSK. Gilead owns the oral antiretroviral pill Biktarvy (bictegravir/emtricitabine/tenofovir alafenamide), while GSK and partner ViiV Healthcare market the oral pill Tivicay (dolutegravir) and long-acting injectable Cabenuva (cabotegravir/rilpivirine).

While these virus-suppressive treatments are effective, a true cure remains elusive and the field continues to face several substantial challenges. In March 2024, the World Health Organization warned of a growing virus resistance against Tivicay.

Meanwhile, gene therapies which have strong curative potential still pose potential safety concerns, particularly unintended edits and off-target effects.

Tristan Manalac is an independent science writer based in Metro Manila, Philippines. Reach out to him on LinkedIn or email him at tristan@tristanmanalac.com or tristan.manalac@biospace.com.

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Excisions CRISPR-Based HIV Treatment Fails to Show Curative Potential in Early Study - BioSpace

BALTIMORE An ambitious effort to cure HIV with CRISPR genome editing fell short in an early clinical trial, investigators announced Friday morning.

In the study, run by Excision BioTherapeutics, researchers tried to use the gene editing tool to address a chief reason HIV has been so hard to cure. While antiviral drugs can clear patients of replicating virus, HIV is able to worm its way into a patients own DNA in certain cells. If the patient ever stops taking medicines, those cells start pumping out HIV particles and the infection roars back.

Researchers hoped they could send CRISPR to those cells and, by cutting the HIV DNA lurking there at two spots, slice out the virus. In the Phase 1 trial, investigators administered the treatment to five patients. They then took three of them off conventional antiviral treatment.

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Trial using CRISPR to edit HIV out of cells disappoints - STAT - STAT

Cell culture

MT4CCR5 cells are a human CD4+ T cell-line modified to stably express CCR5 co-receptor after being transduced with a lentiviral vector expressing human CCR5 under the control of SFFV promoter. These cells are susceptible to both R5-and X4-tropic HIV-1. The MT4CCR5 cells were kindly provided by Dr. Koki Morizono (UCLA, Los Angeles). These cells were cultured in RPMI-1640 medium (Gibco) supplemented with 10% fetal bovine serum (Gibco), 2mM L-glutamine, 100 units penicillin, and 100g/ml streptomycin (Gibco). The cell cultures were maintained in a humidified incubator at 37C and 5% CO2. HEK293T cell line (Clontech) was used for viral production and lentiviral titer. The cells were cultured in Dulbeccos Modification of Eagles Medium (Hyclone) with the same supplements as MT4CCR5 cells.

The third-generation lentiviral vector, pLVX-AcGFP1-N1 (Clontech, Cat# 632154), was used as the backbone vector to transfer the C46 HIV-1 fusion inhibitor gene into the target cells. The C46 C-peptide fusion inhibitor sequence obtained from the publication of Felix G. Hermann et al., 200950 were gene synthesized and cloned into pUC57 plasmid (Integrated DNA Technologies, Inc). The C46 HIV-1 fusion inhibitor sequence was designed to flank XhoI and EcoRI restriction sites to clone in the lentiviral vector, resulting pLVX-C46-AcGFP1. The pLVX-C46 plasmid was cloned by amplifying C46 HIV-1 fusion inhibitor gene without the expression of AcGFP1 from the synthesized pUC57 plasmid with the forward primer having the XhoI restriction site and the reverse primer adding a stop codon before the EcoRI restriction site. All construct lentiviral plasmids were confirmed to contain the C46 HIV-1 fusion inhibitor by restriction enzyme digestion and DNA sequencing.

VSVG-pseudotyped lentiviral vector particles were produced in HEK293T cells, using four separate plasmids and the calcium phosphate transfection method, as previously described51,52,53. HEK293T cells were seeded on 10-cm cell culture dishes, and co-transfected with the construct lentiviral vector with the third-generation packaging plasmid system (Addgene plasmid #12251 (pMDLg/pRRE), #12253 (pRSVREV), #12259 (pMD2.G). Vector particles were harvested from the culture supernatant collected at 24 and 48h. The viral vector titers, determined by infection of HEK293T cells with serial dilution of the samples, were expressed as the percentage of AcGFP1+positive cells evaluated by flow cytometry.

MT4CCR5 cells and MT4CCR5 CRISPR/Cas9 knockout CCR5 cells (1106) were transduced with lentiviral vectors at a multiplicity of infection (MOI) of 0.1 with 8g/ml polybrene for 24h. The transduced cells were seeded in a 6-well plate and incubated at 37C for 3days before determining the percentage of transduced cells by flow cytometry. The transduced cells were enriched for those containing the lentiviral vectors by treating them with 1g/ml puromycin (SigmaAldrich) in culture medium and refreshing the medium every 34days.

3xNLS-SpCas9 plasmid (Addgene plasmid#114365), was transformed into ClearColi BL21(DE3) E.coli cells for protein expression. The recombinant protein was expressed and purified as previously published54. In detail, the cells were cultured in LuriaBertani medium supplemented with 100g/ml of ampicillin at 37C until the cell density reached 0.6 at OD600 nm. Subsequently, protein expression was induced by adding 0.4mM isopropyl--D-thiogalactopyranoside (IPTG), and the culture was maintained at 18C in a shaking incubator for 24h. After induction, cells were centrifuged, and the cell pellets were stored at20C. To purify the Cas9 protein, the cell pellets were lysed in a buffer containing 20mM TrisHCl pH 7.5, 200mM NaCl, 0.5mg/ml lysozyme, and 1mM DTT by incubating on ice for 10min. The cells were then physically lysed by sonication and centrifuged at 15,000rpm for 1h at 4C. The supernatant was applied onto the first 1ml of HisTrap FF prepacked column (Cytiva). After extensive washing with binding buffer (20mM TrisHCl pH 7.5, 200mM NaCl) and binding buffer containing 20mM Imidazole for 5ml, the partially purified Cas9 protein was eluted with a buffer containing 200mM imidazole. For the second purification step, hydrophobic interaction chromatography (HIC) column (phenyl sepharose HP) was utilized. The HIC column was pre-equilibrated with 20mM TrisHCl pH 7.5, 200mM NaCl, and 2M NaCl buffer. The elution sample from the first column was also supplemented with salt up to 2M to promote protein binding. After applying the sample onto the column, Cas9 protein was eluted with a buffer containing 20mM TrisHCl pH 7.5, 200mM NaCl, and 1M NaCl. Finally, the Cas9 protein was further purified using gel filtration chromatography (superdex 200 increase 10/300 GL) as a third purification step. The purity of the final protein sample was evaluated by SDS-PAGE. The protein concentration was determined by the Bradford method using BSA as protein standard.

The sgRNA1# sequences, 5-ACTATGCTGCCGCCCAGT-3; the sgRNA2# sequence 5-CAGAAGGGGACAGTAAG-314. The sgRNAs targeting to CCR5 gene were synthesized with chemically modified nucleotides at the terminal positions at both the 5 and 3 ends were purchased from Integrated DNA Technologies, Inc. Ribonucleoprotein (RNP) complex was made by incubating 6g (36.81pmol) or 10g (61.35pmol) of the in-house purified Cas9 protein, 2g (61.86pmol) or 4g (123.72pmol) of sgRNA#1 or sgRNA#2 at room temperature for 20min. Resuspended 1106 cells in 20l of SF cell line nucleofector solution, mixed with the RNP complex, and transferred into the Nucleocuvette (Lonza), program DC100. The nucleotransfection protocol was followed according to the manufacturers recommendations (Amaxa 4D-Nucleofector, Lonza).

Cells were stained with monoclonal antibodies against human CCR5 (2D7: PECy7 labeled, eBioscience, Cat#557752), human CXCR4 (12G5: APC labeled, Biolegend, Cat#306510), human CD4 (OKT4: PE labeled, Biolegend, Cat#317410), according to the manufacturers instructions. C46 HIV-1 fusion inhibitor expression was measured by staining with 0.2g of anti-HIV-1 gp41 Monoclonal (2F5) (NIH AIDS Reagent Program, Cat#1475) followed by 50l of 1:500 of the secondary antibody (PE-anti-human Fc, Jackson Immunoresearch, cat#109-115-098). Isotype control antibodies were included with mouse IgG2b control-PE (ImmunoTools, Cat#21275534), mouse IgG1 control-APC (ImmunoTool, Cat#2185016), and mouse IgG1 control-PECy7 (Biolegand, Cat#400126). CCR5, CXCR4, CD4, C46 HIV-1 fusion inhibitor, and AcGFP1 expression were measured by flow cytometry using the CytoFLEX Flow Cytometer (Beckman Coulter). A live cell population defined by 7AAD- staining (Biolegend, cat#420404) was subjected to single-cell population analysis for each antibody staining. Additionally, a positive control for dead cells was established by exposing MT4CCR5 cells to heat at 56C for 30min before staining and determined by the 7AAD+ population. Data analysis for gene expression was performed with FlowJo version 10 software (BD Biosciences).

The genomic DNA was isolated from cells using Invitrogen Purelink Genomic DNA Mini Kit (Invitrogen, cat#K182001) according to the manufacturers instructions. 25ng of genomic DNA per reaction was validated with real-time PCR reactions set up in duplicate in 25l reaction volumes using Agilent Brilliant II master mix (Invitrogen) in a 96-well plate on CFX Connect Thermal Cycler platform (Bio-Rad). Taqman primer and probe sequences for this assay were as follows: C46 probe: 5 6-FAM/CA CTC CAC G/ZEN/C AGC ACT TCC GCT CG/IABkFQ 3, C46 forward primer: 5 CAC AGC CTG ATC GAG GAG AG 3, C46 reverse primer: 5 GTC CTG CCA CTG GTG GTG 3, -globin probe: 5 HEX/CT CCT GAG GAG AAG TCT GCC GTT ACT GCC /BHQ-2 3, -Globin forward primer: 5 CAA CCT CAA ACA GAC ACC ATG G 3, -Globin reverse primer: 5 TCC ACG TTC ACC TTG CCC 3. Thermocycling conditions were 50C 2min, 95C 10min, 40(95C 15s; 60C 1min)18.

Cells were washed with ice-cold PBS and lysed in radioimmunoprecipitation assay (RIPA) lysis buffer (Thermo-Fisher Scientific). The total protein concentration in the cell lysates was measured using the bicinchoninic acid assay (Thermo-Fisher Scientific). Subsequently, 30g of total protein was separated by SDS-PAGE and transferred onto a PVDF membrane (Thermo-Fisher Scientific). Blocking was carried out using 5% skim milk (Sigma) in 0.05% PBST for 24h, followed by overnight incubation with the primary antibody (anti-CCR5 antibody; CUSABIO TECHNOLOGY, cat#CSB-PA006994). After washing the blots five times with 0.05% PBST, they were probed with the secondary antibody (Goat pAb to Rb IgG (HRP); AbCam, cat#ab205718) for 1h and subsequently detected using ECL Western Blotting Substrate (Bio-Rad, cat#1705060) and scanned using the Odyssey InfraRed Imaging System (LI-COR BioSciences, Lincoln, NE). The blots were then stripped with mild stripping buffer (Thermo-Fisher Scientific), re-blocked, and re-probed with anti--Actin antibody (Abcam, cat#ab8227).

Genomic DNA was extracted from cells using Invitrogen Purelink Genomic DNA Mini Kit (Invitrogen, cat#K182001) according to the manufacturers instructions. The target sequence was amplified using the Phusion high-fidelity DNA polymerase (Thermo Scientific, cat#F-530XL) and XhoI-CCR5 forward primers 5-TGGACAGGGAAGCTAGCAGCAAA-3 and EcoRI-CCR5 reverse primer 5-TCACCACCCCAAAGG TGACCG-3. The PCR products were annealed after purification. Next, 2l of hybridized DNA were subjected to digestion with 0.5L T7EI (New England Biolabs) in NE Buffer 2 for 30min at 37C. Subsequently, the samples were loaded onto a 2% agarose gel electrophoresis with an equal amount of PCR product controls from non-edited samples.

R5-tropic HIV-1BaL virus and X4-tropic HIV-1NL4-3 virus were produced by transient transfection of pWT/BaL plasmid (NIH AIDS Reagent Program, cat#11414) or pNL4-3 plasmid (NIH AIDS Reagent Program, cat#114) into HEK293T cells. Monolayers of HEK293T cells (5106 cells per 10-cm dishes) were transfected with 10g of each plasmid using a calcium phosphate transfection method51,52,53. After 8h, the transfection mixture was withdrawn, replaced by 10ml of 10% FBS in DMEM medium. The transfected cells were incubated for 24h. HIV-1 viruses were harvested from the culture supernatants and filtered through sterile syringe filters with a 0.45-m pore size (Merck Millipore). HIV-1 samples were aliquoted and kept at80C. The virus titer was determined for the HIV viral load using the COBAS AMPLICOR HIV-1 Monitortest (version 1.5; Roche Molecular Systems, Branchburg, NJ).

The 1106 cells were incubated with HIV-1 at MOI of 1 and 10 for 16h. The cells were then washed three times with serum-free medium and resuspended in fresh growth medium. The infected cells were split into half at 3-day intervals, to maintain a cell density of approximately 106cells/ml. HIV-1 replication was monitored in culture supernatants, using HIV-1 p24 Simple Step ELISA kit (Abcam, cat#ab218268) and viral load assay, as described above. The cell pellets were kept determining cell viability by 7AAD staining (Biolegend, cat#420404) and flow cytometry.

Data was obtained from triplicate experiments (n=3). The data were analyzed, and standard deviations (SD) were calculated using the Prism 7 (GraphPad) statistical software program. Unpaired t-tests with Welchs correction were used to calculate p values, and p<0.05 was considered statistically significant.

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CRISPR/Cas9 genome editing of CCR5 combined with C46 HIV-1 fusion inhibitor for cellular resistant to R5 and X4 ... - Nature.com

Genome editing has been successfully used to treat liver disease in fetal monkeys while still in the womb.

A collaborative team led by Dr William Peranteau from the Children's Hospital of Philadelphia and Professor Kiran Musunuru from the University of Pennsylvania, Philadelphia, has successfully used base editing, a form of CRISPR/Cas9 genome editing whereby only a single DNA base is changed, to treat hereditary liver disease in fetal monkeys.

'Genetic diseases affecting the liver, including metabolic liver diseases, are some diseases that may benefit from in utero editing,' the researchers explained while presenting their work at the 27th Annual Meeting of the American Society of Gene and Cell Therapy in Baltimore, Maryland. 'This body of work presents evidence that a one-time injection is enough to fix a broken gene by editing it to correct a disease-causing mutation.'

In this study, the researchers used base editing to treat hereditary tyrosinemia type one (HT1), a condition that also affects humans. This liver disease is caused by a mutation in the Fah gene, leading to a buildup of toxic byproducts that cause severe damage to the liver.

Base editing avoids the risks associated with the double-strand breaks created in traditional CRISPR techniques, which can lead to unpredictable edits and higher levels of cellular toxicity (see BioNews 1217 and 1091). Currently, this disease is managed with nitisinone, a medication that blocks the HPD enzyme. This enzyme acts upstream of Fah and blocks the pathway that leads to the production of toxic byproducts, thereby preventing damage to the liver.

The researchers also targeted the HPD enzyme, by disabling the HPD enzyme-coding gene. Previously, the they had success using this approach in fetal mice while still in the womb (see BioNews 971). In the current study, the researchers have tested the feasibility of in utero base editing in crab-eating macaques, which provide a much closer genetic model to humans, allowing researchers to refine the approach for potential future therapies.

To test the efficacy of the approach in utero, the researchers also delivered the base-editing injection to three-year-old crab-eating macaques. They noted that the editing levels were approximately 2- to 4.5-fold lower compared to fetal monkeys, which highlights the potential advantages to editing during fetal development.

'We also find that delivering our injection earlier in life matters, and improves how well we can edit the disease gene. With this work, we hope to pave the way to one-day offering patients these types of one-time injections to [treat] diseases caused by genetic mutations,' the researchers said at the Meeting.

Although HT1 is a rare disease affecting roughly one in 100,000 individuals and treatable with nitisinone for most patients, this research acts as a proof-of-concept to treat a wide range of congenital diseases before birth using CRISPR base editing.

However, despite the promising results, significant hurdles remain before this technique can be applied safely and effectively in humans.

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CRISPR base editing treats liver disease in fetal monkeys | PET - BioNews

Plans for Australias first cryonic storage facility have been set for southern New South Wales.

The Cryonics Centre would freeze bodies in the hope they will be revived years, decades or even centuries later.

A site has been scouted at Holbrook and is now waiting council approval.

Matt Fisher from Stasis Systems said freezing is a detailed process.

"We have cryoprotectants that essentially prevent the formation of ice crystals within the body during the freezing process."

If it goes ahead, the Cryonics Centre will be the first in the Southern Hemisphere.

Gavin Smith is one of many prospective customers already warming to the idea.

"The bits that make me me are here and they don't die immediately so if there's a way to hit pause, I'd love to do that, he told 7 News.

The process would cost around $80,000, possibly from your life insurance, to freeze and preserve your dead body.

But the method does have strong skeptics.

Bosch Professor of Histology Chris Murphy told 7 News cryonic preservation is pointless.

"When we use cryoprotectants we use them to preserve tissue for looking at in the microscope, not for bringing it back to life... the structure is still dead, he said.

At this point in time, scientists agree that cryogenics is not possible.

Supporters of the procedure, however, still have high hopes, holding faith in future technologies that will fill the gaps in our knowledge.

Mr Fisher said he does not doubt it will be a possibility one day.

"When you're talking about what happens in a thousand years or ten thousand yearsit's really difficult to put upper limits on what's possible, he said.

He hopes the centre will open next year.

News break March 3

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Cryonics Centre planned for southern NSW - Yahoo New Zealand News

The French new space in-orbit services company Infinite Orbits raised a 12 million round led by Newfund Capital along with the EIC Fund, IRDI Capital Investissement and Space Founders France. The main objective of this fundraising is enabling Infinite Orbits to accelerate the development of its main project Endurance, a Life Extension satellite for space assets.

Endurance will empower satellite operators to optimize their fleet management strategies while increasing their return on investment through adding years to the life of their satellites. Endurance is planned to demonstrate the first European Life Extension mission in 2026.

Last year, we already achieved a major step: we are the first startup in the world to have a commercial nanosatellite in geostationary orbit, we formed a key alliance with satellite operator Intelsat to develop services for its fleet. With four major clients, including Azercosmos, Intelsat, CNES and Hispasat, the Company has closed its second year of revenues and is on a strong growth path to cross the 60 million figure in 2027, explained Adel Haddoud, CEO of Infinite Orbits. And as a commercially driven company, the next logical step for us is to offer all GEO operators new reliable and competitive services such as Life Extension.

Founded in 2017, Infinite Orbits Endurance will be operated by Infinite Orbits RPO technology (Rendezvous and Proximity Operations), an autonomous vision based navigation technology that allows assets in space to approach and dock to one another. RPO technology will pave the way towards a sustainable utilization of space resources, allowing for a durable space environment. The technology is designed to be replicated for advanced in-orbit services, including close inspection, re-fueling, in-space manufacturing and many more applications yet to materialize following the spectacular growth of satellites launched in recent years.

The verification and validation roadmap of Infinite Orbits technology started in 2019 with key technology partnerships including ESA & CNES and with funding from the European Innovation Council (EIC), bpifrance, La Region Occitanie. This roadmap has led to the launch of Infinite Orbits Orbit Guard #1 to GEO orbit on May 1st 2023, carrying the first version of Infinite Orbits technology.

We are thrilled to partner with a company like Infinite Orbits, perfectly embodying our commitment to backing deeptech ventures with the potential to lead globally, said Salim Hassad, Investment Director at Newfund. Infinite Orbits stands out with its exceptional founding team, robust technological foundation, and promising commercial trajectory. We are confident that Infinite Orbits will not only excel in the in-orbit servicing sector but also emerge as a future international champion.

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Toulouse-based space tech Infinite Orbits bags 12 million to build first life extension satellite - EU-Startups

Top OB/GYN Is on a Mission to Impact the Lives of Women

ATLANTA, GA / ACCESSWIRE / May 9, 2024 / May is Women's Health Month, including Women's Health Week from May 12-18. This annual observance is designed to focus attention on the health issues facing women. LaReesa Ferdinand, MD., shares some information about unique products that are available to promote better health outcomes. Dr. Ferdinand believes women should take time to focus more on their own personal health and needs. The U.S. Department of Health and Human Services points out that heart disease, breast cancer, osteoporosis, depression, and autoimmune diseases are the top five health issues facing women.

RECOMMEND SOME SUPPLEMENTS

For many patients, supplements can work wonders. One that's highly recommended is Life Extension's FLORASSIST Probiotic Women's Health, an oral probiotic supplement designed with women's vaginal, digestive and immune health in mind. Probiotics play an important role in women's health by providing healthy bacteria. FLORASSIST promotes healthy vaginal flora, pH levels and tissue health, while encouraging digestive comfort and improving immune response. Get it for under $25. For more information, visit http://www.lifeextension.com

HOW IMPORTANT IS REGULAR EXERCISE

Exercise and good self-care are key to maintaining mental and physical health, and this is especially true for women. For this, try Arnicare Gel. It is scientifically formulated with Arnica and provides relief from everyday muscle aches and pains, swelling from injuries and discoloration from bruises making it an essential part of a pain-free active lifestyle. The fragrance-free formula is quickly absorbed into the skin. Get Arnicare at Walmart and Walgreens. For more information, visit http://www.arnicare.com

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About TipsOnTV TipsOnTV covers a variety of topics, including food, entertaining, personal finance, technology, travel, health, lifestyle and more.

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Women's Health Expert Dr. LaReesa Ferdinand Shares Tips to Kick Start Health and Wellness on TipsOnTv - AccessWire

Although no firm decision has been taken yet by the Army, EDR On-Line understands that the Army should take a decision soon. These vehicles have been in service for over 20 years and definitely need refurbishment.

No modification were made to the powerpack, although both the engine, a Detroit Diesel 6V53T providing 300 hp, and the transmission, an Allison X200-4 with four forward and one reverse gears, were fully refurbished bringing them to zero hour. Some sensors were added, which allow the driver to see on the new Driver Vision Enhancement system numerous data that were not available in the past, such as rounds per minute, speed, fuel status and battery status. No modification were made on the protection, although the company does not exclude the adoption of a spall liner. This, together with the maintaining of the single-pin tracks, will allow the 14 tonnes tracked vehicle to maintain its swimming capability.

To improve crew safety and vehicle survivability a new generation fire suppression system that uses FM-200 gas in place of Freon; the system in the engine compartment provides a double shot, the same being for that in the cabin and troop compartment, personnel being also able to activate the fire suppression system manually. LED lighting replaced conventional one both externally and internally.

The firepower will be improved. Two options are proposed, the first retaining the FNSS one-man Sharpshooter stabilised turret, armed with a 25 mm cannon and a 7.62 mm coaxial machine gun, and upgrading it adding a new gunners sight, a thermal imager, both from Thales Defense & Security, a laser rangefinder, and a new fire control system. The second option is to replace the existing turret with the Saber unmanned turret, also from FNSS, which is already fitted with all those systems and can host a 12.7 machine gun or a 40 mm automatic grenade launcher as secondary armament.

The Adnan features four sets of four 76 mm grenade launchers at each corner of the vehicle, while 8 grenades are located on the turret, in two clusters of three plus one tubes each located at the rear sides of the turret. Deftech replaced the grenades fire control box with an upgraded one that allows to understand if the tubes are loaded or not, improving considerably survivability chances. The launchers are interfaced through the new Battle Management System (BMS) Light with the new Laser Warning Receiver, produced by Deftech, which allows smoke grenades to be launched automatically, semi-automatically or manually. The BMS also includes a Blue Force Tracking system. The whole vehicle wiring has been replaced, allowing among other the installation of a 360 situational awareness system, front and rear sensors being both daylight and thermal. The radio suite has also been replaced by new comms in the VHF and HF bands, all software defined.

These allow the ACV-300 Adnan to swap data with other Malaysian Army vehicles, such as the AV-8 Gempita 88 armoured wheeled combat vehicle, as well as with the SR-10 VTOL unmanned air system. Electrically powered, it has a 2.2 metres wingspan and in horizontal flight is propulsed by a two-blade propeller activated by a small 1.34 hp petrol engine; for vertical take-off and landing the lift is provided by four rotors activated by electric motors. The UAS has an endurance of 90 minutes, a range of 20 km, and a maximum speed of 40 knots. Its SR-10 take-off mass is 9 kg, and its payload is a gimballed optronic sensor installed in the nose. It will represent the forward eyes of the Adnan.

In August 2023 the ACV-300 demonstrator has been tested on and off road, logging over 700 km, and test fired both static and on the move. EDR On-Line understands the budget is allocated, the company awaiting the updated requirement document to finalise the proposal, that will then lead to the selection of one of the two contenders. While the programme aims initially at upgrading only the ACV-300 in the AIFV configuration, which can carry the driver, commander, gunner and eight dismounts, the programme might extend to the remaining versions of the ACV-300 in service with the forces.

Photos by P.Valpolini

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DSA 2024 - Deftech exhibits the proof of concet vehicle of the ACV-300 life extension programme proposal for the ... - EDR Magazine

EBT-101, a CRISPR-based gene-editing therapy from Excision BioTherapeutics, was safe and well tolerated in a Phase I study, but it did not prevent viral rebound in the first three participants who stopped antiretroviral treatment, according to a presentation last week at the American Society of Gene & Cell Therapy (ASGCT) annual meeting.

Excision put a positive spin on the findings, noting that favorable safety data is a necessary step on the path to developing therapies for latent viral infections. The company also touted promising early results from studies of CRISPR-based therapies for herpes simplex virus and hepatitis B. But the HIV rebound news is disappointing, and it underscores the importance of remaining wary of exaggerated claims from industry and the mainstream press about the state of HIV cure research.

Initial data from the EBT-101-001 trial provides important clinical evidence thatagene editingtreatment modality can be safely delivered fortargetingthe HIV DNA reservoirs in human cells, study investigator Rachel Presti, MD, PhD, of Washington University St. Louis School of Medicine, said in a news release. This study provides researchers with invaluable insights for how CRISPR technology can be applied for addressing infectious disease and was an important first step towards additional programs designed to optimize this treatment modality for treating the millions of individuals who are impacted by HIV and other infectious disease.

Antiretroviral therapy can keep HIV replication suppressed indefinitely, but the virus inserts its genetic blueprints into the DNA of human cells and establishes a long-lasting reservoir that the drugs cant reach. This integrated HIV DNA lies dormant in resting T cells during treatment, but it can start churning out new virus when antiretrovirals are stopped, making a cure nearly impossible. The only way to tell whether an intervention leads to long-term remission is to discontinue antiretroviral therapy with careful monitoring, known as an analytic treatment interruption.

Kamel Khalili, PhD, of Temple University, and colleagues have been studying gene therapy to cure HIV for more than a decade. In 2014, they reported that a CRISPR-Cas9 tool could cut out a segment of integrated HIV DNA necessary for viral replication. A study published in 2019 showed that this approach could remove integrated HIV genes and clear latent viral reservoirs in mice.

This led to the development of EBT-101, a CRISPR-based therapy delivered by an adeno-associated virus that uses dual guide RNAs to target three sites on the integrated HIV genome. Making cuts at these locations prevents the production of intact virus. Last August, researchers reported that a single dose of a simian version of the therapy safely and effectively removed an HIV-like virus from viral reservoirs in monkeys on antiretroviral therapy, but this study did not include a treatment interruption.

The first human clinical trial of EBT-101 (NCT05144386) started in 2022, enrolling people on antiretroviral therapy with a stable undetectable viral load. The study protocol called for participants who maintained viral suppression at 12 weeks after receiving the gene therapy to undergo an analytic treatment interruption.

At the European Society for Gene & Cell Therapy annual meeting last October, Presti reported that EBT-101 was detectable in the blood of the first three treated participants after a single IV infusion at the initial dose level. EBT-101 was well tolerated with only mild temporary side effects. She did not present treatment interruption outcomes, but that didnt stop the Daily Mail from proclaiming that a cure for HIV could be months away.

Presti gave an update last week, and the news generally wasnt good. Of the five participants who have so far received the initial dose of EBT-101, three stopped antiretroviral therapy. Unfortunately, all three experienced viral rebound and had to restart their antiretrovirals. This likely occurred because the gene therapy did not reach all cells harboring latent HIV, and even a very small number of cells containing residual HIV DNA is enough to reignite viral replication.

But the news was not all bad. One EBT-101 recipient was able to maintain viral suppression for four months after treatment discontinuationconsiderably longer than it typically takes for the virus to rebound after stopping antiretrovirals. This suggests that EBT-101 or similar CRISPR therapies might play a role in a combination functional cure strategy.

We know that many people were hopeful that a first trial could provide evidence of a possible cure for HIV because the field has been waiting over 20 years for a cure, Excision senior vice president William Kennedy, MD, said in a news release. However, it was essential that this clinical trial establish safety for EBT-101 as a gene therapy product as well as safety related to the use of CRISPR for the field.

Excision is now testing a higher dose of EBT-101 in a second cohort and is exploring new CRISPR delivery methods that might be more efficient than the adeno-associated virus vector. One possibility is lipid nanoparticles like the ones used to deliver messenger RNA (mRNA) in COVID-19 vaccines.

The company is also exploring CRISPR-based approaches for other latent viral infections. Herpes simplex virus (HSV) persists in nerve cells, and it can reactivate to cause cold sores, genital herpes or eye inflammation (keratitis). Hepatitis B virus (HBV) establishes chronic infection in the liver, where it can potentially lead to cirrhosis and liver cancer. Unlike HIV and other retroviruses, however, HSV and HBV do not integrate their genetic blueprints into the chromosomes of human cells, so they may be easier to remove.

In other presentations at the ASGCT meeting, researchers reported preclinical results for another experimental CRISPR therapy dubbed EBT-104, showing that a single dose reduced HSV DNA by more than 99% in laboratory cell cultures. Whats more, it eliminated viral shedding in 11 of 12 rabbits with herpes keratitis, according to the news release.

In other preclinical research, a single dose of EBT-107a CRISPR compound delivered by lipid nanoparticlesreduced HBV DNA, hepatitis B surface antigen and hepatitis B e antigen by 98%, 97% and 92%, respectively, in a mouse model of hepatitis B. Unlike CRISPR delivered by viral vectors, EBT-107 in nanoparticles and could potentially be given as multiple doses to reach more latent virus.

Click here for more news about HIV cure research.

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CRISPR HIV Gene Therapy Disappoints in Early Study - POZ

Pfizer has reported the death of a patient in the Phase II DAYLIGHT study of experimental gene therapy, fordadistrogene movaparvovec, to treat Duchenne muscular dystrophy (DMD).

The trial is designed to assess the safety and dystrophin expression in young boys with DMD.

In a community letter issued by the company, Pfizer said: We do not yet have complete information and are actively working with the trial site investigator to understand what happened.

The patient received the investigational gene therapy, fordadistrogene movaparvovec, in early 2023.

The company has also paused participant dosing associated with the crossover portion of its Phase III CIFFREO trial, while continuing other trial activities as scheduled.

Pfizer concluded the initial dosing of subjects in placebo-controlled, randomised crossover CIFFREO trial last year.

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Both DAYLIGHT and CIFFREO trials are part of Pfizers research into fordadistrogene movaparvovec for DMD treatment, targeting different age groups.

DAYLIGHT enrols boys aged two to less than four years, whereas CIFFREO involves boys aged four to less than eight years.

Despite the dosing pause in CIFFREO, the company clarified that this action does not extend to other ongoing trials within the fordadistrogene movaparvovec programme, as dosing in those studies has already been completed.

Pfizer is also collaborating with regulatory authorities and an independent external Data Monitoring Committee to investigate the cause of the patients death.

The company added: The safety and well-being of the patients in our clinical trials remains our top priority, and we are committed to sharing more information with the medical and patient community as soon as we can.

We are also aware that many in the patient community are hopeful about the potential benefit of fordadistrogene movaparvovec for the treatment of DMD, and we will continue to collect data from our trials to evaluate its ability to address this disease.

Earlier this month, the company reported net income of $3.11bn in the first quarter (Q1) of 2024, marking a decrease of 44% from $5.54bn posted in Q1 2023.

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Read more from the original source:
Pfizer reports fatality in Phase II DMD gene therapy study - Clinical Trials Arena

Pictured: Panelists on stage at ASGCT (L to R: NHLBIs Gary Gibbons, NCATS Joni Rutter, Amy Jenkins of Advanced Research Projects Agency for Health, NINDS Amir Tamiz and ASGCT President Jeffrey Chamberlain)/Photo by Greg Slabodkin

Advancing translational research of novel therapies is a priority for both the scientific community and the National Institutes of Health, according to stakeholders at the 2024 American Society of Gene & Cell Therapy (ASGCT) annual meeting.

In a Friday fireside chat with officials from the National Institute of Health (NIH) at ASGCT 2024, ASGCT President Jeffrey Chamberlain described translational research as the critical nexus between basic science and clinical investigation.

This is an area where were trying to bridge the gap between fundamental new discoveries and their applications to improve human health, Chamberlain said.

The sessions agenda highlighted some of the pivotal basic science and translational studies, as well as the researchers who are making breakthroughs when it comes to transformative genetic therapies.

Gary Gibbons, director of the National Heart, Lung, and Blood Institute (NHLBI) at NIH, touted his organizations launch of the Cure Sickle Cell Initiative in 2018 as a collaborative research effort to accelerate the development of gene therapies to cure sickle cell disease (SCD).

Gibbons said that new FDA-approved curative gene therapies for SCD Vertex Pharmaceuticals CRISPR-based Casgevy and bluebird bios gene therapy Lyfgeniaare a case study in the value of translational research for creating transformative treatments for patients.

We had folks from Vertex and bluebird bio at the table from the beginning, as well as our colleagues at FDA, Gibbons commented. Because we knew at that stage we were defining a regulatory pathway toward that end.

Chamberlain called Casgevy and Lyfgenia possibly the most exciting development ever in the field of gene therapies.

Joni Rutter, director of the National Center for Advancing Translational Sciences (NCATS) at NIH, said that one of her organizations primary missions is to re-engineer the translational research process so new treatments and cures for diseases can reach patients faster. Our mission is essentially to understand how to traverse that pipeline better, faster, more effectively and efficiently, Rutter said.

NCATS has taken credit for enabling a path to market for ReveraGen BioPharmas Duchenne muscular dystrophy therapy, which was approved by the FDA in late 2023. Another NCATS-led program Rutter pointed to is the Platform Vector Gene Therapy (PaVe-GT) pilot project. Launched in 2019, the PaVe-GT pilot aims to test the hypothesis of whether a platform vector approach will increase efficiency in preclinical testing and clinical trial start-up.

Rutter also pointed to the NCATS-led Bespoke Gene Therapy Consortium (BGTC), a public-private collaboration involving NIH, FDA, industry and patient groups intended to help accelerate the delivery of AAV-based gene therapies for rare diseases. With BGTC, were establishing how to optimize the biology and the studies behind developing the AAV vectors and then were also optimizing the manufacturing, Rutter said.

Greg Slabodkin is the news editor at BioSpace. You can reach him atgreg.slabodkin@biospace.com. Follow him onLinkedIn.

Excerpt from:
ASGCT24: Translational Research Powering Potentially Transformative Therapies - BioSpace