Centre for Molecular Biosciences & Genomics’ Post

Take the opportunity to download this Illumina ebook. It 's a good read about the impact of NGS on Precision Medicine, and in particular, on the treatment of Rare Diseases.

🧬 Comprehensive genomic analysis using next-generation sequencing (NGS) increases the potential of uncovering an underlying etiology in patients. It offers the highest likelihood of rare disease diagnosis and a faster path to ending the diagnostic odyssey. 🧑⚕️ Understanding the genomics of rare diseases can help doctors pinpoint the cause of undiagnosed disorders and help families avoid years of hospital visits and unnecessary tests. 📘 Download our eBook to learn how genomics is driving a fundamental shift in rare disease diagnosis. https://lnkd.in/dQM3gPib #Genomics #NGS #RareDisease #PrecisionMedicine #GeneticTesting #HealthcareInnovation #MedicalResearch #Diagnosis #GenomicMedicine #Bioinformatics Objetivo Diagnóstico. Asociación de personas sin diagnóstico FEDER ONG Sociedad Española de Neurología Sociedad Española de Neurología Pediátrica RD-Portugal

🔬 Genetic Reanalysis Diagnoses Rare Diseases Read more: https://bit.ly/40m9k5r 🌍 Over 500 European patients identified through advanced DNA reanalysis. 🧬 Conditions include neurological disorders & hereditary cancers. 🤝 Collaboration unites 300+ experts across 12 countries. 🚀 ERDERA aims to expand datasets to 100,000+ cases. 💡 New hope for clarity & potential treatments! Credit: Nature Medicine #RareDiseases #ERDERA #Genetics #MedicalBreakthrough #meded #eMedNews

What I didn't expect from the world of #raredisease #patientadvocacy is the achievement buzz of having an abstract accepted. Excited to be preparing another poster to continue increasing our visibility, this time focusing on the impact of #CACNA1C real-world data through our CACNA1C Community Registry (CCR). Can't wait to share it with #clinicians, #geneticists and #researchers at the Genomics England Research Summit. The CACNA1C #Community Registry (CCR) is the global patient registry for CACNA1C-related disorders including Timothy Syndrome and #LongQT8 managed by Timothy Syndrome Alliance and powered by Pulse Infoframe Inc. It currently has 73 participants. CACNA1C-related disorders (CRD) are a group of rare diseases caused by variants in the CACNA1C gene. Knowledge of the full range of symptoms resulting from #genetic variants within CACNA1C continues to expand but encompasses neurologic-only, cardiac-only (LQT8), and mixed neurologic and cardiac symptoms. #TimothySyndrome is a sub-diagnosis of just 1 genetic variant with mixed neurologic and cardiac symptoms. Joshua Henderson Femida Gwadry-Sridhar #GERS2024 #Genomics #PatientRegistry #RealWorldData #RareDiseases 

Lysosomes are membrane-bound organelles responsible for cellular digestion and recycling. Lysosomal dysfunction has been implicated in various diseases, including neurodegenerative disorders and storage diseases. Research focuses on understanding the genetic mechanisms underlying lysosomal dysfunction and identifying genetic markers for resistance. This knowledge can inform the development of therapeutic strategies aimed at restoring lysosomal function and promoting cellular health. Recent studies have highlighted the importance of lysosomal genes, such as those involved in the lysosomal storage disease pathway, in modulating disease susceptibility and resistance. #TheVigyanChronicles #MaulanaAzadNationalInstitutueOfTechnology(MANIT) #UniversidadDelDesarrollo

🐟 Zebrafish: The Tiny Fish Making Waves in Heart Disease Research 🫀 Every year, cardiovascular diseases take 17.9 million lives, making them the world’s leading cause of death. Despite this, genetic causes remain misunderstood. Why? Complex disease progression and overlapping symptoms keep treatments focused on symptom management. For my masters thesis at the University of Exeter, I explored a gene focused research approach to uncover the genetic mechanisms driving heart disease. Our Model Organism - Why Zebrafish? Surprisingly, despite 400 million years of evolution separation, zebrafish share many developmental and physiological similarities with humans. On top of this, zebrafish larvae are transparent, allowing us to observe development in detail. MYBPC3 Gene - Its Role in Heart Disease In humans, MYBPC3 is critical for stabilising the sarcomere (the tiny structure causing muscle contractions) and regulates heart beat. Over 350 mutations have been identified and linked to hypertrophic cardiomyopathy, a condition causing thickening of the left ventricle. However, we know very little about MYBPC3’s role in early heart development. Using CRISPR/Cas9 gene-editing technology, we knocked out MYBPC3 in zebrafish to study how its absence affected heart function, blood flow, and overall development. What Did We Find? - Zebrafish larvae showed only mild changes in heart structure and function, suggesting MYBPC3 might not be critical during early development. - Interestingly, this mirrors findings in humans and mice, where MYBPC3-related symptoms tend to appear later in life. What’s Next? Our findings could suggest: 1️⃣ Zebrafish have compensatory mechanisms for MYBPC3 loss. 2️⃣ Residual protein activity may be masking the effects. 3️⃣ MYBPC3 is simply not as important in early development as we thought. Our results indicate MYBPC3 loss and subsequent disease onset is progressive and takes time to manifest. This research not only helps us better understand MYBPC3 but also moves us closer to creating better models for studying human heart disease. If you're interested or have any questions about my project, feel free to reach out - I’d love to discuss it further! #CardiovascularDisease #Zebrafish #Genetics #MedicalResearch #CRISPR #Innovation #MastersThesis

Diagnosing rare diseases in adults using Next-Generation Sequencing 🔬 Advanced sequencing tools like exome/genome sequencing (ES/GS) and long-read sequencing (LRS) significantly improved diagnostic accuracy, especially for adult cohorts 🧬 This month’s suggested read, in support of Telethon and rare disease research, is a paper providing a way to maximise diagnosis yields by considering several clinical parameters in patients, including family history, age of symptom onset, and genetic cause 🦠 We at 4bases present the WholEx pro sequencing kit allowing whole exome sequencing for single nucleotide variant identification Read the full article here: https://lnkd.in/dU7yzKU9 #RareDiseases #PrecisionMedicine #Telethon

Did you know that GBA1 mutations are one of the most significant genetic risk factors for Parkinson’s disease? Studies show that in certain populations, up to 15% of PD patients carry GBA1 variants. These mutations are often linked with earlier onset and more severe symptoms. As genetic research advances, understanding these variations is crucial for developing personalized therapies that can improve outcomes for GBA1-associated PD patients. 📈 Becker-Cohen et al. (2022) highlighted the importance of genetic testing to identify these mutations, opening up opportunities for targeted treatments and individualized care. Insights like these pave the way for more precise and effective approaches to Parkinson’s care. 🔗 Read more about GBA1 mutations and Parkinson’s disease in Becker-Cohen et al. (2022): https://lnkd.in/dkWcAbgD #InternationalGaucherDay #GaucherDisease #RareDiseaseAwareness #GeneticResearch #HealthcareInnovation #PatientCare #Agyany #Sidransky #GBA1 #GaucherResearch #FutureOfMedicine Prof Dr Arndt Rolfs, Ari ZIMRAN, Anke Kaysser-Pyzalla, Ali Mahlodji, Dr. Anne Sophie Geier, Anu Acharya, RCV-biotech, Ashley Uys, Dr. Anne Sophie Geier, Anu Acharya, Gaucher Disease Argentina, Gaucher Argentina, Ingrid Gaucher, Karl-Theodor (KT) zu Guttenberg, Anne BEINIER, Rabih Khouri, Majdolen (Joleen) Istaiti, Jonathan Isaacsohn, MD, FACC

Public health genomics is about all of us! Should we focus on rare or common diseases? Multiple global genomics and precision medicine initiatives have focused on rare diseases (and cancer). These projects envision a future where the availability of more data can facilitate our ability to better diagnose, treat, and prevent diseases. With limited resources, debates on where to begin are inevitable. However, such debates rest on a false dichotomy, i.e., that by starting with rare diseases we have forsaken our obligation to address common diseases. To the contrary, what we build and what we learn by implementing PM for rare diseases can be extended to common diseases. Via Nature Magazine Genomic Medicine.

Interesting line of thought that is often overlooked….. “that by starting with rare diseases we have forsaken our obligation to address common diseases. To the contrary, what we build and what we learn by implementing precision medicine for rare diseases can be extended to common diseases”. Via Nature Magazine Genomic Medicine.