French Healthcare’s Post

With the dreams of humans to travel far in the galaxy and populate other planets, same excitement is happening to deliver genes into the far depth of our cells to fix faulty genes and correct the faults of the randomness of creation. The gene therapy technology "StitchR" has been developed to overcome the challenge of delivering large genes into the body for the treatment of diseases such as muscular dystrophies. The technology, which was published in the journal Science, delivers two halves of a gene separately into a cell. Once inside, the DNA segments generate messenger RNAs (mRNAs) that join together to restore the expression of a protein that is missing or inactive in disease. StitchR has successfully restored expression of large therapeutic muscle proteins to normal levels in two different animal models of muscular dystrophy. It enabled the expression of the protein Dysferlin, which is lacking in individuals with limb girdle muscular dystrophy type 2B/R2, and the protein Dystrophin, which is absent in patients with Duchenne muscular dystrophy. The technology was developed by Douglas M. Anderson, PhD, and his team at the University of Rochester School of Medicine and Dentistry. They discovered that when two separate mRNAs were cut by small RNA sequences called ribozymes, they became seamlessly joined and translated into full-length protein. The team found that when ribozymes cleave or cut RNA, they leave ends that are recognized by a natural repair pathway. The team optimized the efficiency of the process and adapted the technology into a powerful gene delivery mechanism. When two halves of a large therapeutic gene are encoded into adeno-associated virus (AAV) vectors, the ribozymes cut the ends of the mRNAs and they subsequently join, forming a single, seamless mRNA capable of producing protein in a desired tissue. The stitched mRNAs appear to behave essentially the same way as their natural full-length counterparts, effectively translating genetic information into functional proteins. The team tested numerous ribozyme families and sequences, and identified a formula that led to a high level of protein production. StitchR can be coupled with many different types of vectors that are used to deliver or express a gene in cells and appears to work efficiently with any mRNA sequence. This opens the door for its use in a wide range of diseases and applications. Another feature of this technology is that only the full-length protein is produced, differentiating StitchR from other dual vector technologies. The lab is now forming collaborations with other research labs and generating StitchR vectors to treat numerous diseases caused by large genes. The work was funded by the University of Rochester, the Jain Foundation, CANbridge Pharmaceuticals, and Scriptr Global, Inc. Anderson is a co-founder of Scriptr Global, Inc. The University of Rochester has more than 50 foreign and US patents pending for the StitchR technology.

Nobel Prize-Winning Discovery: MicroRNA Technology Revolutionizes Genetics! 🚀🧬 The 2024 Nobel Prize in Physiology or Medicine was jointly awarded to Victor Ambros and Gary Ruvkun for discovering microRNA's role in gene regulation. Alongside them, top innovators like Bonac Corp, Tokyo Medical University, and Aptamir Therapeutics are leading advancements in this field. What are microRNAs? MicroRNAs (miRNAs) are small noncoding RNAs (20–25 nucleotides) that regulate gene expression and are found in blood and extracellular vesicles. Impact: • Micro (mi)RNAs are small RNA species whose expression is often dysregulated in cancer and other diseases. • MiRNAs are present in the circulation of cancer patients and can potentially be used for disease monitoring. • A large proportion of circulating miRNAs in cancer patients do not originate from tumors but rather reflect the body’s homeostatic response. Essential regulation This year's Nobel Prize focuses on the discovery of a vital regulatory mechanism used in cells to control gene activity. Genetic information flows from DNA to messenger RNA (mRNA) through a process called transcription, and then to the cellular machinery for protein production. Since the mid-20th century, several fundamental scientific discoveries have explained how these processes work. Tiny RNAs with profound physiological importance Gene regulation by microRNA, first revealed by Ambros and Ruvkun, has been at work for hundreds of millions of years. This mechanism has enabled the evolution of increasingly complex organisms. Genetic research has shown that cells and tissues do not develop normally without microRNAs. 📊 GlobalData analysis from Patent Analytics tool shows the key players with publications related to microRNA technology. ⚡ Connect with us today to explore the endless possibilities and propel your business forward! 📧 patents@globaldata.com or ☎ explore more at our contact page: https://lnkd.in/gSiqRwYh

𝑭𝒓𝒐𝒎 𝑪𝒖𝒓𝒊𝒐𝒔𝒊𝒕𝒚 𝒕𝒐 𝑺𝒂𝒗𝒊𝒏𝒈 𝑳𝒊𝒗𝒆𝒔 Building on yesterday’s post about the pioneering work with the tiny worm #CElegans that led to four Nobel Prizes, let’s reflect on the remarkable journey in discovering RNA interference (#RNAi). The 2006 Nobel Prize awarded to Andrew Fire and Craig Mello was just one milestone in uncovering a revolutionary mechanism that allows cells to 𝐬𝐢𝐥𝐞𝐧𝐜𝐞 specific genes. Their work demonstrated how introducing double-stranded RNA can inhibit gene expression, leading to several transformative therapies, fundamentally changing our understanding of genetics and fueling limitless possibilities for further advancements. 𝐊𝐞𝐲 𝐡𝐢𝐠𝐡𝐥𝐢𝐠𝐡𝐭𝐬 for 𝐑𝐍𝐀 𝐢𝐧𝐭𝐞𝐫𝐟𝐞𝐫𝐞𝐧𝐜𝐞 include: 1. 𝐓𝐡𝐞𝐫𝐚𝐩𝐞𝐮𝐭𝐢𝐜 𝐀𝐩𝐩𝐥𝐢𝐜𝐚𝐭𝐢𝐨𝐧𝐬 💉 RNAi has opened new avenues for developing targeted therapies for various diseases with pressing unmet needs, including genetic disorders and cardiovascular diseases. Notable examples: ▪ Parisiran: approved in 2018, it was the first RNAi therapeutic to reach the market, treating hereditary amyloidosis, a rare disease where misfolded proteins accumulate in tissues. ▪ Givosiran: approved in 2019, targets acute hepatic porphyria, a genetic disorder with severe neurological complications. ▪ Inclisiran: approved in 2021, is used to lower cholesterol levels in patients with hypercholesterolemia. 2. 𝐑𝐞𝐬𝐞𝐚𝐫𝐜𝐡 𝐀𝐝𝐯𝐚𝐧𝐜𝐞𝐦𝐞𝐧𝐭𝐬 🧬 This discovery enables us to explore gene function and regulation in unprecedented ways, paving the path for innovations in gene editing and synthetic biology. Key advancements: ▪ The systematic gene knockdown across the genome, facilitating the identification of gene functions and interactions. ▪ As a standard tool in functional genomics, helping us understand the roles of specific genes in various biological processes. ▪ Integrated with other technologies, such as CRISPR, to enhance gene editing capabilities. 3. 𝐅𝐮𝐭𝐮𝐫𝐞 𝐏𝐨𝐭𝐞𝐧𝐭𝐢𝐚𝐥 💡 The limitless possibilities include: ▪ Exploring RNAi therapies for more common conditions, such as cardiovascular diseases and neurodegenerative disorders like Alzheimer’s. ▪ Advances in delivery technologies, such as lipid nanoparticles enhancing the ability to target RNAi therapeutics to specific tissues, potentially broadening the range of treatable conditions. ▪ Emerging research on circular RNAs (circRNAs) could offer more stable and long-lasting therapeutic options compared to traditional linear RNA. ✨ Let’s celebrate the insatiable curiosity and brilliant ingenuity of every researcher around the world driving scientific progress! 🙌🏻 Here’s to the future of genetic research and the incredible potential it holds for improving human health! 🔔 Stay tuned for tomorrow’s post related to the 2024 Nobel Prize for the discovery of microRNA! 📸 Credit in the comments #Curiosity #Ingenuity #MedicalResearch #NobelPrize #GeneTherapy #Innovation #Therapeutics

Hugely relevant topic both for gene editing and for genomic medicine in general. Representation of people of different ancestries is essential to ensure that all potential patients are covered equally.

As advancements in sickle cell disease research unfold, the urgency for more effective treatments — and even cures — heightens. For 40 years, the only potential cure for sickle cell disease has been bone marrow transplantation. In recent years, groundbreaking advancements in gene editing have opened new avenues for treatment. St. Jude researchers Mitchell Weiss, MD, PhD, and Jonathan Yen, PhD, are at the forefront of genome-editing ability with base and prime editing, working with the St. Jude Collaborative Research Consortium for Sickle Cell Disease and specifically David Liu, PhD, of the Broad Institute of MIT and Harvard, to pioneer innovative approaches to improve and expand treatment options for this disease. Their work in base and prime editing — advanced forms of gene editing beyond CRISPR-Cas9 — offer a glimpse of the future of treatment. Base editing is a highly efficient method of directly altering single DNA bases while prime editing is a more versatile technology capable of both base and gene edits. By using these innovations, researchers broaden the possibilities and effectiveness of genome editing, being able to directly fix the mutation underlying sickle cell disease by reverting the DNA to its healthy sequence. As Yen notes, “Base editors may be able to create more potent and precise edits than other technologies. But we must do more safety testing and optimization.” Weiss added, “We have identified what might be the next wave of therapies for genetic anemias. We took the newest cutting-edge genetic-engineering technology and showed that we could make meaningful gene edits for future therapies.” These new forms of gene editing could be key to providing a powerful, ‘one-size-fits-all’ treatment for sickle cell disease and beta thalassemia. By exploring these cutting-edge techniques, St. Jude scientists are making strides toward improving patient outcomes. This collaboration showcases the power of multidisciplinary teamwork, bringing together scientists from across the U.S. to find new solutions for genetic diseases. With prime and base editing at the forefront, St. Jude continues to innovate, pushing the boundaries of what’s possible in genetic engineering and potentially providing cures for sickle cell disease and other genetic anemias. #StJude #SickleCellDisease #GeneEditing #BaseEditing #PrimeEditing #SickeCellAwarenessMonth

📍 Scientists discover potential treatment approaches for polycystic kidney disease Excerpt: Researchers have shown that dangerous cysts, which form over time in polycystic kidney disease (PKD), can be prevented by a single normal copy of a defective gene. This means the potential exists that scientists could one day tailor a gene therapy to treat the disease. They also discovered that a type of drug, known as a glycoside, can sidestep the effects of the defective gene in PKD. The discoveries could set the stage for new therapeutic approaches to treating PKD, which affects millions worldwide. The study, partially funded by the National Institutes of Health (NIH), is published in Cell Stem Cell [https://lnkd.in/e4ErTvYh]. Scientists used gene editing and 3-D human cell models known as organoids to study the genetics of PKD, which is a life-threatening, inherited kidney disorder in which a gene defect causes microscopic tubes in the kidneys to expand like water balloons, forming cysts over decades. The cysts can crowd out healthy tissue, leading to kidney function problems and kidney failure. Most people with PKD are born with one healthy gene copy and one defective gene copy in their cells. “Human PKD has been so difficult to study because cysts take years and decades to form,” said senior study author Benjamin Freedman, Ph.D., at the University of Washington, Seattle. “This new platform finally gives us a model to study the genetics of the disease and hopefully start to provide answers to the millions affected by this disease.” Read ➡ https://lnkd.in/eNcqyuz8 #polycystickidneydisease #kidneydisease #kidneyorganoids

The Promise of CRISPR: Revolutionizing Genetic Medicine... The discovery of the CRISPR-Cas9 gene editing tool has transformed the field of genetics, offering unprecedented potential for treating genetic diseases. This revolutionary technology enables precise modifications to the human genome, holding promise for curing previously incurable conditions. What is CRISPR? CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) is a bacterial defense mechanism against viral infections. CRISPR-Cas9, adapted for gene editing, consists of two components: 1. Guide RNA (gRNA): locates target DNA sequence 2. Cas9 enzyme: cuts DNA at targeted location Applications in Genetic Medicine 1. Treatment of Genetic Disorders: CRISPR offers hope for curing inherited diseases, such as sickle cell anemia, cystic fibrosis, and Huntington's disease. 2. Cancer Therapy: CRISPR can selectively kill cancer cells by disrupting oncogenes. 3. Gene Therapy: CRISPR enables precise insertion of healthy copies of a gene to replace faulty ones. 4. Regenerative Medicine: CRISPR facilitates gene editing in stem cells for tissue repair. Success Stories 1. Sickle Cell Disease: CRISPR corrected mutations in human stem cells. 2. Leber Congenital Amaurosis: CRISPR restored vision in patients with inherited blindness. 3. Immunotherapy: CRISPR-enhanced T-cells combat cancer. Challenges and Concerns 1. Off-target Effects: unintended DNA modifications 2. Mosaicism: mixed populations of edited and unedited cells 3. Ethics: germline editing and designer babies 4. Regulation: standardization and oversight Future Directions 1. Improved Precision: enhancing CRISPR specificity 2. Delivery Systems: efficient in vivo gene editing 3. Combination Therapies: integrating CRISPR with other treatments Conclusion CRISPR has transformed genetic medicine, offering hope for treating incurable diseases. As research advances, addressing challenges and concerns will be crucial. The promise of CRISPR is vast, and its potential to revolutionize healthcare is undeniable.... #snsinstitutions #snsdesignthinking #snsdesignthinkers

Celebrating Dr. David R. Liu's Pioneering Work in Gene Editing at PMWC 2025! We are excited to honor Dr. David Liu at PMWC 2025 (February 5-7, Santa Clara Convention Center). His groundbreaking work in base editing and prime editing has revolutionized genetic medicine, offering new hope to millions. An Exclusive Q&A with Dr. David Liu Q1: Can you explain the difference between base editing and prime editing? Dr. Liu: “While both base editors and prime editors enable precise changes to DNA, base editing directly converts one base into another (for example, A to G) without causing double-stranded breaks. In contrast, prime editing can perform a broader range of edits, including insertions and deletions, offering more versatility in precise DNA modifications.” Q2: How is your work transforming clinical applications? Dr. Liu: “The power of base editing was highlighted when it was used to treat T-cell leukemia in a young girl who had no other options. We used base-edited CAR T-cells, and her leukemia went into complete remission—a powerful testament to the real-world potential of these technologies.” Why Dr. Liu's Work Matters: -Base Editing enables precise changes to DNA, making it possible to correct mutations that cause genetic diseases like sickle cell anemia and cancer. -Prime Editing extends these possibilities even further, allowing scientists to insert or delete sections of DNA to treat more complex genetic conditions. Dr. Liu’s work is at the forefront of medical innovation, offering a future where precise gene correction is a reality for millions of people suffering from genetic diseases. Join me in congratulating Dr. Liu on this well-deserved recognition as the PMWC 2025 Honoree! 👏 Beam Therapeutics, Amy Simon, Prime Medicine, Inc., Editas Medicine Exo Therapeutics, Broad Institute of MIT and Harvard, Gaddy Getz, Anahita Vieira, Ph.D., Emily Botelho, Michael Bruce, Gilmore ONeill, James Mullen, Alix Ventures, Nicole M. Gaudelli, Luke Koblan, Janice Chen, Mammoth Biosciences, University of California, Berkeley, Fyodor Urnov, Jacob Herman, Ph.D., Fadi Najm, Jonathan Gootenberg, Charles Gersbach, Prashant Mali, Nadav Ahituv, Morten Sogaard, Trevor Martin, Shilpi Arora  Dr. Liu will be giving his keynote on the future of gene editing technologies and their growing clinical applications. Don’t miss the chance to hear from one of the brightest minds in the field! See program: https://lnkd.in/gm9nsW_G PMWC - Precision Medicine World Conference,

Recently, gene therapy appears to be the most effective way to treat genetic and neurodegenerative diseases, surpassing traditional methods in effectiveness, especially in the case of vision restoration. As visual impairments are affecting millions of people worldwide, and the number of visually disabled people will increase, due to the aging of the population, it is crucial to look for innovative treatments to face this challenge (1). Despite the loss of light-activated photoreceptors and structural changes in the degenerated retina, surviving cells remain largely functional and can be photosensitized via optogenetic approaches (2). Supplementation of light-sensitive opsin proteins, using genetically engineered viral vectors to those cells, can convert them to direct light detectors, mimic photoreceptors, and restore information processing (2, 3, 4). In the Ophthalmic Biology Group, our main, long-term goal is to propose and create a new and safe approach to restore vision in blind patients, using modified viral vectors, carrying genes encoding natural and chimeric opsins. We are using cutting-edge viral tracing methods, single-unit recording technology from the primary visual cortex, and behavioral training. We have proven, that delivery of opsins via viral vectors, causes them to be produced in infected cells in the degenerated retina, restoring selected visual functions in treated animals. Author: Dr. Jagoda Płaczkiewicz, Postdoctoral researcher in the Ophthalmic Biology Group (OBi) at ICTER. Figure. Neurons infected with virus carrying the therapeutic cargo. (1) Bourne, R. R. A., Steinmetz, J. D., Flaxman, S., Briant, P. S., Taylor, H. R., Resnikoff, S., Casson, R. J., Abdoli, A., Abu-Gharbieh, E., Afshin, A., Ahmadieh, H., Akalu, Y., Alamneh, A. A., Alemayehu, W., Alfaar, A. S., Alipour, V., Anbesu, E. W., Androudi, S., Arabloo, J., … Vos, T. (2021). Trends in prevalence of blindness and distance and near vision impairment over 30 years: An analysis for the Global Burden of Disease Study. The Lancet Global Health, 9(2), e130–e143. https://lnkd.in/d7rKzYX3 (2) Jones, B. W., Pfeiffer, R. L., Ferrell, W. D., Watt, C. B., Marmor, M., & Marc, R. E. (2016). Retinal remodeling in human retinitis pigmentosa. Experimental Eye Research, 150, 149–165. https://lnkd.in/dUGQqyXd (3) Jones, B. W., Watt, C. B., Frederick, J. M., Baehr, W., Chen, C.-K., Levine, E. M., Milam, A. H., Lavail, M. M., & Marc, R. E. (2003). Retinal remodeling triggered by photoreceptor degenerations. The Journal of Comparative Neurology, 464(1), 1–16. https://lnkd.in/d26Mu6SQ (4) McClements, M. E., Staurenghi, F., MacLaren, R. E., & Cehajic-Kapetanovic, J. (2020). Optogenetic Gene Therapy for the Degenerate Retina: Recent Advances. Frontiers in Neuroscience, 14, 1187. https://lnkd.in/dB6b3d3y #ICTER_PL #OBi #EyeResearcg #Optogenetics #GeneTherapy #Vision #Blindness