Our genes influence more than who we are. They have the power to control disease development, treatment response, and innovation in medicine. It’s #GeneticsAwarenessWeek and we’re sharing how Regeneron Genetics Center builds large-scale, representative genomic databases and connects DNA insights with real-world impact. We help unlock discoveries that could transform how we understand and treat disease. 🧬 👉 Watch one of the first steps in our Regeneron Scientific Journey: https://bit.ly/3OIWmN4 #HumanGenetics
Genetics Impact on Disease Development and Treatment
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Natera has commercially launched Zenith™ genomics, a powerful new platform designed to tackle one of medicine’s biggest challenges: delivering timely and accurate diagnoses for rare genetic conditions. Exciting real-world data on its performance across diverse rare disease patients is being presented at #ACMGMtg26—stop by booth #1517 to learn more! https://lnkd.in/gAS9CFUZ
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In The Pathologist, Dr. Ryan Taft, Chief Scientific Officer at Genetic Alliance and Dr. Stacy Musone, Head of Global Market Development at PacBio, discuss the diagnostic odyssey of rare diseases and how advanced genomics could improve diagnostic yield. Over the past decade, next-generation sequencing has advanced rare disease diagnostics, yet many cases remain unresolved. Bridging this gap requires not only cutting-edge tools, but also integrated approaches to data, interpretation, and global collaboration. Read the full Q&A here 👉 https://bit.ly/4teKth0 #Genomics #RareDisease #iHope
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What if no patient had to endure a diagnostic odyssey? We’re closer than ever to that reality—but getting there will require us to think beyond incremental advances. As Ryan Taft and Stacy Musone discuss, the next chapter in rare disease diagnostics will be defined not just by more powerful sequencing, but by how effectively we connect data, scale interpretation, and collaborate globally. The future of genomics🧬 isn’t only about reading the genome—it’s about truly understanding it, and translating that understanding into answers for every patient. That’s the vision we should all be working toward. #Genomics #RareDisease #iHope #PacBio
In The Pathologist, Dr. Ryan Taft, Chief Scientific Officer at Genetic Alliance and Dr. Stacy Musone, Head of Global Market Development at PacBio, discuss the diagnostic odyssey of rare diseases and how advanced genomics could improve diagnostic yield. Over the past decade, next-generation sequencing has advanced rare disease diagnostics, yet many cases remain unresolved. Bridging this gap requires not only cutting-edge tools, but also integrated approaches to data, interpretation, and global collaboration. Read the full Q&A here 👉 https://bit.ly/4teKth0 #Genomics #RareDisease #iHope
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🎉 New paper out! Congratulations to Prof. Ruxandra Bachmann-Gagescu and Prof. Carsten Wagner from Universität Zürich and colleagues on their publication uncovering how rare genetic variants contribute to kidney stone disease. 🔬The study published in The Journal of Clinical Investigation family of journals shows that a subset of adults with kidney stones have a monogenic cause which meaningfully drives recurrence risk and highlights why combining genetic data with deep metabolic profiling is essential for precise patient stratification. 🧬A great example of how integrating genomics with biochemical phenotyping can advance personalized medicine. Read more: https://lnkd.in/e73X8GQW #personalizedmedicine #genomics #kidneystones #uzh #universityofzurich
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Confidence That Scales With You 🔍✨ As testing volumes grow, your confidence in results must grow too. In this short video, a pediatric molecular genetics lab shares how they adopted a unified automated NGS workflow that supports diverse applications without sacrificing reliability. 🤝 In rare disease research, confidence isn’t optional. It’s everything.✨ Watch the testimonial: 👉 https://lnkd.in/d2XRbZVk #NGS #GeneticLabs #Automation #LibraryPrep #Technology #VoiceOfCustomer
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Sometimes, answers require going beyond standard sequencing. When deeper insight into the genome is needed, Baylor Genetics’ Whole Genome Sequencing goes even further. Enabled by advanced technologies—including optical genome mapping and long‑read sequencing—these enhancements give eligible rare disease patients access to additional modalities which include: - Interpretation of complex structural variants and genomic rearrangements - Short tandem repeat (STR) analysis across 58 clinically significant genes - FMR1 methylation analysis for Fragile X syndrome Visit us at #ACMGMtg26, booth 1017, to learn how we’re unlocking the power of genomics to enable faster, more accurate diagnoses. Learn more: https://lnkd.in/eRWqwECY #ACMG26 #OGM #LongReadSequencing
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Besides SeqOne’s talk tomorrow at #ACMGMtg26, Poster 627 "Utilization of Twist CNV Backbone Spike-in Panel with exome for replacing cytogenetic arrays” will be showcased today at 10:30 am ET. Link to abstract: https://lnkd.in/edAbbWWc Look forward to chatting about ways to empower your CNV calling! Twist Bioscience
🧬 Don't miss our talk at #ACMG2026! Friday, March 13 | 12:30–1:00 PM | Exhibit Theater 1 Mitch Nemcek will present "From Complexity to Clarity: Streamlining CNV and SV Interpretation in Clinical Genomics", showcasing how SeqOne handles the full journey from CNV detection to large variant visualization, whatever your wet lab setup. The talk features an example using Twist Bioscience's CNV Backbone Spike-in Panel, especially timely as ACMG's latest statement outlines key considerations for NGS-based detection of copy-number abnormalities and structural variants in genetic disorders. Find us at booth 1722. Let's talk genomics! 💡 #ClinicalGenomics #CNV #NGS #ACMG2026 #SeqOne #TwistBioscience
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The journey to a rare disease diagnosis is often a marathon of uncertainty, but each new genomic discovery replaces a question mark with a map. This is the transformative power of precision science meeting human resilience. A recent study identified a novel genetic disorder linked to premature aging and cognitive changes, a critical step for families seeking answers. It underscores a vital truth: behind every rare genetic variant are individuals and families navigating complex medical landscapes. At Raregeno, we bridge this gap by empowering these communities with cutting-edge genomic insights and unwavering support. We partner with patients and families, transforming genomic data into actionable understanding. Through our integrated platform of advanced analysis and dedicated community networks, we accelerate the path from diagnosis to hope. Every genome sequenced is a story waiting to be understood, and every connected family strengthens the collective pursuit of cures. Explore how we are turning genomic potential into patient power. Visit https://raregeno.com to learn more. Read the article on this significant finding here: https://lnkd.in/gscEk-pa #RareDisease #Genomics #PrecisionMedicine #PatientAdvocacy #HealthcareInnovation #Undiagnosed #GeneticDisorder #PatientEmpowerment #RareDiseaseResearch #CommunitySupport
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Big thanks to Melissa & colleagues. This is a big step for HPO and will improve our ability to analyze rare disease data in EHR settings!
With many thanks to Alexander Davydov, Bryan Laraway, & Nicolas Matentzoglu, the #HPO (Human Phenotype Ontology) is now in OHDSI ATHENA vocabularies. This will help greatly with phenotyping #rareDisease patients and support global evidence generation! Congratulations Peter N Robinson! The Monarch Initiative, Global Alliance for Genomics and Health, National Organization for Rare Disorders
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“We need 50 million people sequenced if we really want to understand ultra, ultra rare variants in genetics,” Regeneron CEO Dr. Leonard Schleifer said when discussing what’s needed to overcome hurdles to advance the science the rare disease community needs. Watch the #CNBCCures Summit here: lnkd.in/ecS2ccHK
University of Sydney•457 followers
2wUnderstanding the genetic drivers of disease is incredibly valuable for developing better human cell models and therapeutic strategies. As someone working with pluripotent stem cell differentiation, it’s exciting to see how large-scale genomic datasets can help guide disease modeling and translational research.