Nostos Genomics’ Post

Join us for the last panel of the day: "VUS, Equity & Accuracy," moderated by Dr. Melissa Wasserstein from ScreenPlus. Panelists include Dr. Sri Raj, Dr. Vaidehi Jobanputra, and Dr. Aaron Goldenberg. This engaging discussion will take place from 3:50 PM to 4:30 PM, focusing on the complexities of Variants of Uncertain Significance (VUS) and their implications for equity and accuracy in genomic medicine. Don’t miss this important conversation! #ICoNS2024 #PanelDiscussion #Genomics #Equity #VUS

🔬Advancing Rare Disease Diagnostics with AION🔬 Designed to drive breakthroughs in rare disease diagnostics, AION is trusted by leading diagnostic and research labs across Europe to solve complex cases. At the recent #UndiagnosedHackathon event our technology made a profound impact, as Alexander Hoischen from Radboudumc shared: “I was very impressed by the performance of AION during the 2024 Undiagnosed Hackathon! It helped unravel the molecular cause of disease for several patients with complex conditions” This real-world success highlights our commitment to empowering researchers with advanced tools that make a real difference in the lives of patients with rare diseases. Are you a Rare Disease Researcher? We’re now offering an exclusive opportunity for 10 academic research teams to gain free access to AION, our AI-powered genetic analysis platform. With limited spots, we encourage early applications to secure your place in this transformative program - https://lnkd.in/edutRzRy Let’s push the boundaries of diagnostics and improve outcomes for patients with rare conditions. 🌍 🧬 Talk to our team to find out more: https://lnkd.in/eKVtwpmi #RareDiseaseResearch #Genetics #ResearchGrants #AcademicResearch

The COL1A1 and COL1A2 genes, responsible for encoding type I collagen, play a vital role in maintaining connective tissue strength. Variants in these genes are the primary cause of Osteogenesis Imperfecta (OI), a condition characterized by fragile bones, frequent fractures, and other connective tissue-related complications. Osteogenesis Imperfecta is a stark reminder of the importance of early and accurate genetic diagnoses. In a blog we shared earlier, we highlighted our colleague’s remarkable journey in her fight to secure the correct diagnosis for OI. Her story reflects the struggles many face with rare diseases and the critical role genetic insights play in providing answers. At Genomenon, we are proud to support the rare disease community through curated genetic data, helping clinicians and researchers uncover the root causes of complex conditions like OI. By connecting patients’ stories to the science behind the diagnosis, we strive to bring hope and clarity to those navigating the diagnostic journey. 🔗 Revisit Jessica’s story here: https://lnkd.in/gMHkTy6v #OsteogenesisImperfecta #COL1A1 #COL1A2 #GenomicIntelligence #Genomics #Genetics #MastermindGIP

🌟 Upcoming Event: Rafa's Moonshot to Speak at the STXBP1 Summit 🌟 We’re thrilled to announce that Rafa's Moonshot will be speaking at the STXBP1 Summit in July. Hosted by STXBP1 Foundation, the STXBP1 Summit is a critical event that brings together researchers, clinicians, and advocates dedicated to advancing our understanding and treatment of STXBP1 disorders. Sagi Gidali and Dr. Ella Gordon will talk at the researchers' round table about 'moonshot thinking', researcher collaboration, and Rafa's Moonshot's strategic plan to accelerate treatment development. Their insights will contribute to the broader conversation on innovative approaches for STXBP1 research. Learn more about the summit here: https://lnkd.in/gysiX9dX Stay tuned for more updates as we continue to advance research in rare genetic diseases. #RafasMoonshot #STXBP1 #RareDiseaseResearch #STXBP1Summit #InnovativeMedicine #DrugDevelopment

Broad Clinical Labs’ Blended Genome-Exome (BGE) Sequencing method was recently deployed on over 53,000 samples from the Populations Underrepresented in Mental Illness Associations Studies (PUMAS) Project, covering diverse African, African American, and Latin American populations. The results? Unprecedented accuracy and efficiency in genomic data generation, paving the way for groundbreaking insights into complex traits and diseases. We welcome you to read the pre-print of the publication! https://bit.ly/3AnlMsZ Blended Genome Exome (BGE) Sequencing offers a cost-effective approach to address challenges in throughput and variant detection, particularly for large volume studies. It provides an alternative to Whole Exome Sequencing (WES) that balances efficiency and accuracy. See our web page to learn more about our BGE offering. https://bit.ly/3NXtU6D #globalhealth #genomicresearch #populationstudies #diagnostics #multiomics #genomics #proteomics

Are you attending Association for Clinical Genomic Science (ACGS) today (10 June)? If so, make sure to catch a really insightful talk - A Spectrum of Possibilities: Our Experience by Dr David Brettle of Royal Surrey County Hospital at 3.10 p.m. #ACGS #genomics #clinicalgenomics

ADLM 2024 Highlights: Gain insight into the mission and values guiding LGC Biosearch Technologies and LGC Clinical Diagnostics. Explore their extensive range of products and services, the strategic collaboration between these two branches, and their commitment to advancing the future of clinical diagnostics and genomics. Watch more videos on SelectScience: https://lnkd.in/eDAqpYee #clinicaldiagnostics #clinicalscience #genomics #ADLM2024

To learn more on genome analysis for clinical insights, pharmacogenomics and how GenomeArc Horizon can help resolving the unresolved patients, please register for the talk. GenomeArc Horizon V2 is compatible with PacBio and Oxford Nanopore Technologies structural variants (SVs) output. From an entire genome SNV/Indel and SVs, Genome HorizonV2 can identify ACMG guided variants in minutes, equipped with world's fastest whole genome tertiary analysis engine. Register: https://lnkd.in/dHjvQbSH www.genomearc.com Email: info@genomearc.com or mariam.eldesouky@genomearc.com  #rarediseases #genome

🌟 New Research Alert! 🌟 Explore Mitophagy-Related Genes in Sepsis! Our latest article, “Identification of Mitophagy-Related Genes in Sepsis,” uncovers critical insights into how mitochondrial autophagy can influence the onset and progression of sepsis. 🔍 Key Findings: Identified four key genes associated with mitophagy: TOMM20, TOMM22, TOMM40, and MFN1. Provides a foundation for future biological studies aimed at sepsis treatment. Published in Volume 19, Issue 8, 2024, this open access article is now available! 👉 Read it here: https://bit.ly/4dWpjvL Join us in advancing the understanding of sepsis and its treatments! #Sepsis #Mitophagy #MitochondrialHealth #OpenAccess #MedicalResearch #Biology #Inflammation #Healthcare #Genomics #ProteinInteraction

BREAKING: A new study from Radboudumc showcases remarkable results using HiFi long read sequencing with the Revio system in advancing rare disease research. This study represents a defining moment in human genomics with researchers anticipating this momentum will accelerate the potential adoption of PacBio sequencing as the preferred method for rare disease diagnostics. More here: https://lnkd.in/gZmH3GNi #PacBio #RareDisease #Genomics