Yolanda Cabrera-Sybesma

A conversation worth watching - at #AMPath2025, our CEO Udayan Umapathi sat down with Keith Robison from Omics! Omics! and Lennart Kester from the Prinses Máxima Center for Pediatric Oncology to chat about our latest milestone — uniting diverse chemistries and sequencing workflows on a single platform: Callisto. They shared real perspectives from both the industry and the lab — Keith on why having it all in one system matters, and Lennart on how Callisto is changing the way clinical labs approach innovation for NGS prep. It was an inspiring, candid chat about the future of NGS sample prep automation and what’s next for sequencing.  Watch the video to hear it straight from the experts! #Callisto #VoltaLabs #NGS #Automation #Innovation #ClinicalGenomics

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In #raredisease for decades, one of the hardest problems has been straightforward to state and brutal to solve: how do you treat the #brain with large biologics delivered systemically? A new outstanding paper in #NEJM (Muenzer et al., 2026) is an important milestone for brain translational science in #lysosomal storage disorders—reporting Phase 1/2 data for tividenofusp alfa, an IV, #bloodbrainbarrier (BBS) penetrant enzyme replacement therapy for #MPS II (#Hunter syndrome). What stood out to me: - #CNS substrate reduction at scale: #CSF heparan sulfate ↓ ~91% at 24 weeks, with most participants reaching the range seen in unaffected children - Peripheral substrate reduction as well: urinary HS ↓ ~88% - Durability signals in longer follow-up, including reductions in a neuronal injury biomarker (NfL) - Early clinical stabilization/improvement trends (adaptive behavior; organ involvement) This is still open-label Phase 1/2—so the job is not finished. The critical next step is randomized confirmation with clinically meaningful endpoints. But strategically, the direction is clear: platform-enabled delivery across the BBS is moving from concept to clinic, and that changes the roadmap not only for Hunter syndrome, but for the broader class of neurologic lysosomal diseases. Muenzer J, Burton BK, Harmatz P, et al. An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II. N Engl J Med. 2026;394(1):39-50. doi:10.1056/NEJMoa2508681. #RareDisease #Biotech #DrugDevelopment #LysosomalStorageDisorders #MPSII #HunterSyndrome #CNSDelivery #ClinicalTrials Ari ZIMRAN Volha Dr. Skrahina Huma A Cheema Ameen Al Refai, CG(ASCP) paskal cullufe Ameet Nathwani Emre Basar David Benshoof Klein Carlos Buesa Boris Schlaak Carlos de Sousa Prof. Dr. med. Ilhan Celik Cindy Tauber Curtis Woodard Cord Friedrich Staehler Daniela Couto Duraid Al Shaikh Eesha Sharma Eugen Szekely Fabrizio Trinchese, MD Felix Haas Fuad Al Hadidi Gamal Elfatarany (MD) Georg Nebgen Georg Nagl Hartwig Hennekes Henry Gosebruch Huw Tippett Holger Rademacher

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Paradigm Shift in Rare Disease Drug Development: The Core Foundational Material Platform Approach 1.  The traditional disease-specific approach fails due to high costs and low success rates, leaving most rare diseases untreated. We propose a Core Foundational Material (CFM) platform approach that fundamentally shifts the paradigm by achieving economies of scope (economic), employing a master regulator strategy (biological), and adopting systems thinking (philosophical). This CFM platform enables a single substance to address multiple rare diseases by restoring fundamental biological systems.Traditional drug development, which targets specific disease pathways, often fails in rare diseases due to specificity demands, lack of commercial viability, and complex pathogenesis. The CFM platform is a promising alternative. 2.  Economic Perspective: Economies of ScopeThe existing custom-made model incurs high, repetitive R\&D fixed costs and risks. The CFM approach realizes economies of scope by applying a single developed material across numerous diseases, reducing optimization costs, diversifying portfolios, and establishing multiple revenue streams—similar to a modular car chassis platform. 2.1  Biological Perspective: Master Regulator StrategyTraditional drugs target downstream effectors, often triggering compensatory mechanisms. In contrast, CFMs act as master regulators (e.g., Wnt or EADF-Ado) that control fundamental biological processes. This strategy enables system-level rebalancing and addresses root dysfunction by stimulating broad effects like stem cell activation and tissue regeneration, instead of symptomatic relief. 2.2 From Reductionism to Systems ThinkingSystems biology views disease as dynamic network imbalance, shifting focus from disease specificity to functional universality. Restoring fundamental systems (e.g., cellular energy) through a foundational material can reestablish systemic balance. This convergence of economic, scientific, and conceptual validity transforms the goal from symptom suppression to system restoration, enabling a single substance to address multiple disorders. 3. The CFM platform represents a fundamental shift from the one substance–one disease paradigm. A single material platform offers potential for multi-disease treatment, requiring rigorous safety evaluation. Our focus on 'aging' and 'rare diseases' began with a small discovery. We hope this small discovery will contribute to the advancement of humanity. #RareDiseaseTreatment #ParadigmShift #PlatformTechnology #MasterRegulator #SystemsBiology #TissueRegeneration #StemCellActivation #DrugDiscovery #BioInvestment #EconomiesOfScope #AgingResearch #FoundationalMedicine #IncurableDiseases #LifeSciences #WntSignaling

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The EU HTA regulation is reshaping how therapies are assessed across Europe — and strategic readiness is key. In the latest European Biopharmaceutical Review (EBR) supplement, Pamela Vo explores how pharma companies can navigate the Joint Clinical Assessment (JCA) process with cross-functional planning, early evidence generation and a clear understanding of national adaptations. Discover more: https://ow.ly/GvwA50X9jK6 #EUHTA #JCA #MarketAccess

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Inquiry forms weren't designed for strategic conversations. At Threshold Insights, we are doing things differently. From start to finish. Most biopharma consultancies ask you to describe your needs in a form, wait for a response, and schedule a call to finally discuss your challenge. We built something more direct. The approach: Our website is a conversation. Open thresholdpharma.com, describe your strategic challenge, and explore how we think about structuring intelligence for your situation - immediately. The system asks about your context: therapeutic focus, strategic questions, organisational priorities. Then generates analytical frameworks tailored to your needs: pipeline prioritisation models, competitive intelligence approaches, due diligence structures. What makes it work: It demonstrates our thinking rather than describing it. Ask about ADC competitive intelligence, and you will see how we structure that analysis. Discuss investment due diligence, and you will get a preliminary research scope. The conversation becomes more valuable as it progresses. Early exchanges establish context. Deeper dialogue produces customised frameworks. Worth exploring: link in the comments. #biopharma #marketintelligence #businessdevelopment #competitiveintelligence

Long-term value in healthcare investing is shaped by disciplined science and experienced teams. Caldera Therapeutics has launched with US$112.5 million in financing and has initiated Phase 1 dosing of its lead bispecific program in inflammatory bowel disease. Our investment reflects continued focus on early clinical-stage science. We invest in AI companies, including some mentioned here. See our full portfolio at https://lnkd.in/esFyGeza

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✨Powering a Scalable Model with a Hybrid Deployment Approach​ Precision medicine is evolving at an unprecedented pace. As innovation accelerates, the pharma and diagnostic industries need to rethink how companion diagnostics (CDx) are deployed to ensure equitable access worldwide​. ​ In this audio session, Jess Lambe and Louis Welebob explore how a hybrid deployment model, harnessing the strengths of a dual centralized and decentralized approach, allows pharma to combine efficiency, speed, and equity, without compromising quality.​ 🔗 Listen to the session now: ​https://loom.ly/S890qQk ​ #PrecisionMedicine #CDx #LBx #DataDrivenMedicine #Oncology​

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