Purespring Therapeutics’ Post

📍 Cellular principles of fibrosis in diverse pathologies    Patrick et al. presented a comprehensive single-cell transcriptome integration map of cardiac fibrosis, which underpins pathophysiology in most cardiovascular diseases.     Key points  📍Cardiac fibroblast diversity and conservation of resting, activated, and differentiated states across mammalian species  📍Understanding of cardiac fibrosis progression and resolution in diverse cardiovascular diseases models  📍CardiacFibroAtlas for visualization and analysis of gene expression in both myocardial infarction and cross-disease integrated datasets (https://lnkd.in/ePh8njqZ). ➡ More details: https://lnkd.in/dtQZ7v7H #VictorChang #VictorChangCardiacResearchInstitute #spatialomics #spatialbiology #singlecellanalysis #singlecell

New gene therapy for ALS and frontotemporal dementia Neuroscientists have developed a single-dose genetic medicine that has been proven to halt the progression of both ALS and frontotemporal dementia (FTD) in mice – and may even offer the potential to reverse some of the effects of the fatal diseases. The new treatment, dubbed CTx1000, targets pathological build-ups of the protein TDP-43 in cells in the brain and spinal cord, which has been It has been associated with ALS, FTD and other forms of dementia. The research team hopes to see CTx1000 begin human clinical trials in as little as two years. The senior author says in their latest findings, have discovered for the first time that where there is pathological TDP‑43, there is also an increase in a second protein, 14‑3‑3. “The two proteins interact, resulting in these build-ups in the cells,” the author says. “From this, we were able to isolate a short peptide that controls this interaction, and that’s what we used to create CTx1000". #ScienceMission #ScienceNewsHighlights https://lnkd.in/gRtm9_U4

🌟 Join Us in Raising Awareness for World Duchenne Awareness Day! 🌍💪 At Exegenesis Bio, we are committed to making a difference in the lives of those affected by Duchenne Muscular Dystrophy (DMD). On September 7th, we stand together with the global community to observe World Duchenne Awareness Day. Our Promise: Exegenesis Bio is dedicated to advancing cutting-edge research and developing innovative therapies for DMD. Our team of dedicated scientists and researchers is working tirelessly to unlock the potential of gene therapy to transform lives. Key Facts about DMD: § DMD is a rare genetic disorder that affects approximately 1 in 3,500 boys worldwide. § It causes progressive muscle weakness, leading to mobility challenges and often a shortened lifespan. § Early diagnosis and intervention are crucial for better outcomes. How You Can Make a Difference: 1️⃣ Share this post to raise awareness about DMD. 2️⃣ Learn more about DMD and its impact on individuals and families. 3️⃣ Support organizations committed to finding a cure for DMD. 4️⃣ Together, we can make a difference. Join us to raise awareness, promote research, and bring hope to the DMD community. Every small action can create a big impact! Together, we can make a difference. 🤝 #WorldDuchenneAwarenessDay#DMDResearch #rarediseaseawareness #dmd #genetherapies

In a recent study using inducible endothelial cells (ECs), specific TAR DNA-binding protein 43 (TDP-43)–KO mice, scientists found that TDP-43 is crucial for driving angiogenesis, vascular barrier integrity, and blood vessel stability. TDP-43, a key DNA/RNA-binding protein involved in gene regulation, is linked to several neurodegenerative diseases. Postnatal TDP-43 deletion in ECs caused retinal hypovascularization due to defective vessel growth, reduced EC proliferation, and migration. In mature blood vessels, TDP-43 loss disrupted the blood-brain barrier and led to vascular degeneration, accompanied by CNS inflammation and activation of microglia and astrocytes. Mechanistically, TDP-43 deletion disrupted the fibronectin matrix around growing vessels and reduced β-catenin signaling. These findings highlight TDP-43's essential role in developing and maintaining a stable, mature vascular system. Visit us at https://treventis.com/ #TDP-43 #neurodegeneration #microglia #astrocyte #vascular https://lnkd.in/eBpettG4

🎙️ A New Episode Alert! In our latest podcast episode, we dive into the base editing in Spinal Muscular Atrophy (SMA) with Dr. Mandana Arbab. 🧠 Dr. Arbab, the Lodish Family Assistant Professor of Neurology at Harvard Medical School, who started her work on base editing with Dr. David Liu, describes SMA, a debilitating motor neuron disease. 🌍 SMA, the most common genetic cause of infant death worldwide, demands innovative solutions. Our discussion spans current therapeutics, including the gene therapy and the ASO, their limitations, and the promise that base editing holds for precise and long-term corrections. 🧬 Join us in exploring the challenges and opportunities of bringing base editing to clinical trials as we uncover the nuances of delivery mechanisms, biodistribution, and the synergies with existing therapies. We delve into the complexities of clinical trials, from addressing off-target effects to patient eligibility considerations. 🔍 The conversation extends to the future of CRISPR genome editing, offering a glimpse into the potential transformative treatments for rare diseases. 🎧 Tune in to "Gene Therapy Insights" and embark on a journey where science meets hope, and the future of medicine unfolds. 🚀 https://lnkd.in/d4JYCgrW 💡Remember to support by sharing, commenting and reviewing the podcast #GeneTherapy #SMA #BaseEditing #MedicalInnovation #RareDiseases #Podcast #ScienceMeetsHope 

Just published: A translational study evaluating the role of skin microbiome in driving IL-1b immunopathology in a parasitic infection, cutaneous leishmaniasis. Multi-omics integrative computational strategies (machine learning methods and linear modeling) identified subsets of patients with distinct microbiomes associated with variable magnitudes of inflammatory gene expression. Translational experiments in mice validated the role of IL-1b in causing severe chronic inflammation in the skin. This study identified microbiota and immune biomarkers as potential targets for alternative immunotherapies and the development of early assays to predict delayed healing in patients. Science Translational Medicine: https://lnkd.in/eN-6RFT2 W/ Tej Pratap Singh #biomarkerdiscovery #inflammation #immunology #genomics #translationalresearch #AI/ML #clinicalresearch #multiomics #RNAseq #assaydevelopment

All individuals with two copies of the APOE4 gene develop signs of Alzheimer's Researchers have found that over 95% of individuals over 65 years old who have two copies of the APOE4 gene -APOE4 homozygotes- show biological characteristics of Alzheimer's pathology in the brain or biomarkers of this disease in cerebrospinal fluid and PET scans. The study, published in Nature Medicine, also concludes that those individuals homozygous for APOE4 also develop the disease earlier than those with other variants of the APOE gene. These findings suggest that having two copies of the APOE4 gene could represent a new genetic form of Alzheimer's disease, as explained by the author. #ScienceMission #ScienceNewsHighlights https://lnkd.in/g5DrNimk

Strengthening the Fight Against Neuromuscular Diseases At TREAT-NMD, we're dedicated to fostering a collaborative, inclusive global network to advance treatment, diagnosis, and care for neuromuscular patients worldwide. 🌍 We're proud to support the Journal of Neuromuscular Diseases (JND), a key publication that disseminates cutting-edge research and clinical findings in the field. The latest edition is now available, featuring ground-breaking studies, including one on disease-modifying gene therapy for SMA patients. Read more > https://lnkd.in/eWda5sZw By staying informed about the latest research, we can collectively contribute to the advancement of treatment, diagnosis, and care for neuromuscular patients globally. By supporting publications like JND, we can make significant strides toward improving the lives of those affected by neuromuscular diseases. For more information and to sign up to receive their latest updates visit: https://lnkd.in/euWCwtAQ #Neuromuscular #Research #GeneTherapy #SMA #MuscularDystrophy #ClinicalResearch #TREATNMD #JND #MedicalAdvancements #HealthcareInnovation #GlobalHealth #PatientCare

“There are many missions of the Muscular Dystrophy Association: Both excellence in patient care and advancing multidisciplinary care, as well as assisting in discovering new therapies that improve the lives of those living with neuromuscular diseases,” shared Barry Byrne, MD, PhD, Chief Medical Advisor at #MDA. The latest advancements in line with these objectives make the 2024 Clinical & Scientific Conference invaluable for both seasoned clinicians and newcomers to the #neuromuscular disease field. Learn more in this CGTLive feature and register at MDAconference.org #MDAconference  NeurologyLive