GenoMed4All’s Post

The chapter delves into the mechanisms of the CRISPR/Cas system, including its precision and efficiency in targeting and modifying specific DNA sequences. Key advancements in CRISPR technologies, such as base editing, prime editing, and epigenome editing, are discussed for their ability to correct genetic mutations, regulate gene expression, and reduce pathogenic protein aggregation. These technologies provide novel therapeutic opportunities to combat the molecular and genetic abnormalities underlying neurodegenerative diseases. Additionally, the chapter discusses the challenges associated with applying genome editing in clinical settings, including delivery mechanisms, off-target effects, ethical concerns, and long-term safety. It emphasizes ongoing research and emerging innovations aimed at overcoming these hurdles to enable the successful translation of CRISPR-based therapies from the lab to clinical practice. The chapter underscores the transformative impact of CRISPR/Cas and genome editing technologies in revolutionizing the treatment landscape for neurodegenerative diseases, offering hope for more effective and potentially curative therapies in the future. #Genome #Alzheimer's #CRISPR #Gene #DNA #Neurodegenrative #Disease #Treatment #Parkinson's #Huntington's

A new study recently published in Genome Medicine has unveiled significant genetic connections between Inflammatory Bowel Disease (IBD) and Parkinson’s Disease (PD). The research team, led by Meltem Ece Kars, Yuval Itan, and Inga Peter, employed advanced genomic analysis techniques to investigate rare genetic variants in patients diagnosed with both conditions. Their discovery of shared mutations in the #LRRK2 gene sets a new precedent for integrated treatment strategies. This research not only deepens our understanding of the genetic underpinnings common to these chronic diseases but also pioneers the development of dual-disease therapies. Such innovative approaches are poised to transform patient care by targeting both neurological and gastrointestinal symptoms with a single, cohesive treatment plan. "By pinpointing the genetic underpinnings common to both IBD and PD, we pave the way for innovative treatments, whether through the development of novel drug targets or the repurposing of existing drugs, that could potentially tackle the root causes of these conditions," Dr. Kars said. Learn more: https://lnkd.in/ed-d9yyD #IBD #Parkinsons #ParkinsonsDisease #InflammatoryBowelDisease Icahn School of Medicine at Mount Sinai Mount Sinai Health System The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai

Victor Ambros and Gary Ruvkun won the 2024 Nobel Prize in Medicine for their discovery of microRNAs and their role in post-transcriptional gene regulation, a crucial mechanism controlling gene expression in animal development and adult tissue function. Their work began with studying developmental defects in C. elegans nematodes, leading to the identification of lin-4, a small non-coding RNA molecule, and its regulatory interaction with lin-14. This initial discovery, made in 1993, was a complete surprise and challenged existing paradigms of gene regulation. Subsequent research, including the discovery of the highly conserved let-7 microRNA, revealed the vast scope of microRNA's impact, demonstrating their widespread presence and importance across diverse animal species, including humans. MicroRNAs regulate mRNA stability and protein translation, essentially fine-tuning gene expression. The impact of this discovery extends far beyond basic research. Understanding microRNAs is vital for developing diagnostics and therapeutics for various diseases, including metabolic disorders, cardiovascular disease, neurodegenerative conditions, and cancer. #NobelPrize #microRNA #GeneRegulation #Medicine #Science #innovation

A First in Rare Disease Genetics: Emma’s Story and the Untapped Power of ‘Junk DNA’ Emma Broadbent's groundbreaking diagnosis as the first patient with a disorder caused by CHASERR lncRNA deletion showcases the profound potential of exploring non-coding DNA. Her story underscores the importance of these "genomic dark regions" in rare disease diagnosis. Join us at PMWC 2025 in the CGT in Rare Disease Track (Feb. 5-7) to delve into the latest advancements in rare disease research: ~Keynote: Bioorthogonal Chemistry, from Basic Science to Clinical Translation Carolyn Bertozzi, Stanford ~Keynote: The Promise of Genetic Medicines Unless You're Too Poor or Too Rare- James M. Wilson, GEMMA Biotherapeutics ~Addressing Ethical and Financial Barriers in Gene Therapy Chair: Tim Hunt, Alliance for Regenerative Medicine ~Next-Generation Delivery Systems for Gene Therapies Chair: Morten Sogaard, Astellas Gene Therapies Panelists: Mathieu Nonnenmacher (Voyager Therapeutics, Inc.), Kevin Friedman (Kelonia Therapeutics), Kunwoo Lee (GenEdit), Haig Aghajanian (Capstan Therapeutics) ~Beyond the Genome: Harnessing Epigenetics in Rare Disease Treatment Chair: Charles Gersbach, Duke Panelists: Prashant Mali, (UCSD), Nadav Ahituv (UCSF), Blythe Sather (Tune Therapeutics), Fyodor Urnov (Berkeley University) ~Navigating the Regulatory Landscape for Gene and Cell Therapies Chair: Yael Weiss, Mahzi Therapeutics Panelists: Courtney Silverthorn (BGTC), Peter Marks (FDA), Benjamin Dewees (Kyverna Therapeutics) ~AI-driven Improvements in Gene and Cell Therapy Chair: Morten Sogaard, Astellas Panelists: Francois Vigneault (Shape Therapeutics Inc.), John Androsavich (Ginkgo Bioworks, Inc.), Yogev Debbi (Mana.bio) See program: https://lnkd.in/gPtkWZbQ Emma's story by BioQuick News- https://shorturl.at/LEMcc PMWC - Precision Medicine World Conference, Mike O'Neill #PMWC2025 #RareDiseases #PrecisionMedicine #Genomics #HealthcareInnovation #GeneticResearch #NonCodingDNA #RareDiseaseAwareness #GenomicInnovation #GeneTherapy #PersonalizedMedicine

🎙 I recently had the opportunity to attend an enlightening podcast hosted by Cell & Gene, featuring Cat Lutz, Vice President from The Jackson Laboratory rare Disease Translation Center (RDTC). Here are some key takeaways: 💡 About Jackson Laboratory ⏳ : Jackson Laboratory, founded in 1999, is a non-profit research institution focused on genomics solutions. Led by VP Cat Lutz, the humble organization utilizes mice as models due to their spontaneous mutations, which help in understanding gene functions and the physiology of diseases. Rare Disease Insights 📢 : A rare disease affects fewer than 200,000 people, with a global population of 350 million affected. Despite the significant number, rare diseases often do not get enough focus from many companies due to the smaller patient populations. RDTC is committed to ensuring that rare disease patients have the right to treatment without discrimination. Advancements in Genomics 📌 : Historically, diseases were named after the physicians who identified them. Today, genome sequencing enables precise identification down to the base pair, crucial for early diagnosis. Early and precise identification is vital as many children with rare diseases die before age five without treatment. Gene Therapy 📡 : Genetic therapies are groundbreaking, offering a shift from treating symptoms to addressing the root causes of diseases. While promising, gene therapy is complex and requires further advancements in efficacy, safety, and delivery. Broader Implications ✅ : Studying rare diseases can provide insights into more common conditions like Alzheimer's and congenital heart failure, potentially leading to broader medical breakthroughs. RDTC collaborates extensively with biotech companies, leveraging large grants from NIH and others. These partnerships enable the genetic engineering of disease models, enhancing the understanding and testing of potential treatments. Collaboration Importance: 🙋♀️ RDTC’s work with biotech firms and consortia is vital. By sharing mouse models and research findings, RDTC fosters a collaborative environment where collective efforts drive progress in rare disease research. Key Takeaway: 👈 Precision medicine's ability to identify diseases at the genetic level allows for targeted and effective treatments, significantly improving the chances of survival and quality of life for patients with rare diseases. I'm incredibly inspired by the work being done at Jackson Laboratory’s RDTC and the potential it holds for transforming the future of rare disease treatment. 🌟 #RareDisease #Genomics #GeneTherapy #MedicalResearch #JacksonLaboratory #Collaboration #PrecisionMedicine https://lnkd.in/e4wNR_Qb

🌍 World Gaucher Day 2024: Raising Awareness and Offering Hope 🌍 Today, on World Gaucher Day, we join the global community in raising awareness about Gaucher disease. This year’s theme highlights significant strides in early diagnosis and innovative treatments. At Sanofi, we are committed to supporting patients, families, and healthcare professionals. Early diagnosis and access to effective treatments can transform lives. From enzyme replacement therapy (ERT) to substrate reduction therapy (SRT) and chaperone therapy, we provide life-changing treatments and improve patient outcomes. Our research into stem cell replacement, gene therapy, and genome editing holds promise for more permanent solutions, aiming to potentially cure Gaucher disease in the future. We stand with the International Gaucher Alliance (IGA) and all those affected by Gaucher disease. Together, we can ensure more patients have access to early and accurate diagnoses and the support they need to live full, healthy lives. #WorldGaucherDay #GaucherDisease #SanofiSouthAfrica #HealthcareInnovation #RareDiseaseAwareness

Don't forget that this week Andrea Pelikan and Vasileios N. Georgakakos, MSc, PhD will be at the Crispr Medicine Conference in Copenhagen. A great opportunity to discuss about your cell and gene therapy projects! Our expert in cytogenetic, Dr Vasileios N. Georgakakos, MSc, PhD will also be hosting a talk tomorrow at 3.30 pm ! During this talk, we will share our decade of experience in evaluating the genetic stability of cell therapy products from their development and into Phase III trials and in preparation to their market authorization using our GMP-validated karyotype and FISH assays. Indeed, in the last two decades, there has been a bloom in the development of cell-based medicinal products and especially in the immunotherapy field using modified immune cells against disease. During the long development and production cycle of each novel cell therapy product, the critical question is always the same: Is it safe? Let's meet ! #geneticstability #celltherapy #genetherapy #clonalselection #karyotyping #fishanalysis #CarT #CarNK #lymphocytes #iPSCs #cellsubstrates #GMPkaryotyping

37th Biotest Haemophilia Forum   The 37th Biotest Haemophilia Forum took place from 26 to 29 September in Mondsee, Austria. 90 haemophilia therapists and scientists from Germany and Austria discussed the latest developments and challenges in haemophilia therapy. Experts from the USA and Italy also gave presentations and contributed transnational perspectives.   Dr Christina Erb, Head of Research and Development at Biotest, opened the forum with a presentation on current developments at Biotest. While the clinical approval studies with the IgM-containing immunoglobulin Trimodulin are still ongoing, the studies with the fibrinogen concentrate for acquired and congenital deficiency have been completed and the approval application is being prepared. She gave a detailed update on the ongoing observational study to determine the biological age of haemophilia patients and plasma donors. This study uses the epigenetic clock to measure biological age and thus health status. The aim is to answer the question of whether haemophilia as a chronic disease and its treatment have an impact on biological age.   As in previous years, the main scientific programme covered a wide range of topics, including the treatment of PUPs, initial experience with gene therapy for haemophilia and a new half-life-extended factor VIII concentrate, the generation of tolerance to factor VIII and the treatment of synovitis.   Participants returned to their daily work with promising ideas, new insights and the anticipation of next year's forum.       #Biotest #FromNatureForLife #Healthcare #Haemophilia #HaemophiliaForum

In a Nature perspective, Tim Coorens, Amy Guillaumet-Adkins, Amrita Sule, Ph.D., and colleagues introduce the developmental GTEx (dGTEx) projects, which aim to capture whole genome, expression, and chromatin profiles spanning the developmental trajectories of humans, macaques and marmosets, from birth to adulthood. The original GTEx project produced gene expression and molecular profiles from nearly 1,000 donors and yielded invaluable insights into the tissue-specific nature of gene expression and regulation, but only included adult donors. By extending the GTEx project across species and development, the dGTEx projects will bolster efforts to understand developmental and childhood disorders, the effect of genetic variation during development, and translational therapeutics. #BroadInstitute #Science #ScienceNews #Research #ScientificResearch

🔬 RNA delivery solution : a case study of base editing in Hutchinson-Gilford Progeria Syndrome (HGPS).   FlashRNA®, our cutting-edge RNA delivery technology, has shown remarkable efficiency in delivering an adenine base editor (ABE) and an sgRNA to target the LMNA gene mutation responsible for HGPS in mice. This precise correction reduces the production of progerin, the mutated protein responsible for accelerating aging in HGPS patients.   💡 Through our collaboration with Maria Eriksson's team at Karolinska Institute and the Institute for Basic Science, FlashRNA® is proven to be a powerful tool in genome editing to address complex, rare genetic disorders like progeria.   Key results: ✅ Efficient correction of LMNA gene mutation in treated cells, with more than 20% editing frequency ✅ Significant reduction in progerin expression and inflammation in skin cells. ✅ Long-lasting improvements in epidermal thickness and overall skin health, four weeks post-treatment.   With our state-of-the-art "plug & play" manufacturing and purification process, we ensure high-quality viral vectors from R&D through GMP-level production, supporting you at every stage of your development, from discovery to clinical trials.   👉 Get in touch with our experts : https://lnkd.in/e2SRW6Xg   #CDMO #mRNA #RNAtherapeutics #Geneticdisorders #Genomeediting #Baseediting