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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 24/09/2026

Nice piece of work. We are proud to have contributed our expertise to this publication: JCI Insight - IFN-γ–producing self-reactive CD4+ T cells induce autoimmune adrenalitis in a mouse model of Addison’s disease insight.jci.org/articles/vie...

insight.jci.org

JCI Insight - IFN-γ–producing self-reactive CD4+ T cells induce autoimmune adrenalitis in a mouse model of Addison’s disease

1Laboratory of Adaptive Immunity, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czechia.

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 16/09/2026

🧬 New study in Nature Communications: Czech scientists uncovered a mechanism behind a rare neurodevelopmental disorder linked to EHMT2 variants. CCP created and characterised a mouse model carrying the patient-specific variant, supporting future research into disease mechanisms and therapies.

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 14/09/2026

A huge thank you to all speakers, and especially to the patient organisations who made Session 8 on rare diseases & (gene) therapies so powerful. Your voices matter and the lively discussion showed why patients must be at the heart of research. 💙 #RareDiseases

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 12/09/2026

🎉 Thank you to all 321 participants, 39 speakers and our amazing organisers for a fantastic 8th CCP Phenogenomics Conference! 🧬🔬 See you at the 9th CCP Phenogenomics Conference in Prague, 16–17 September 2027, on site & online! 🇨🇿

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 12/09/2026

💙 #CCPConference2026 closed with a powerful patient-research session: SPATA5, Angelman syndrome & ADSL deficiency, bringing families, foundations & scientists together. The conference concluded with Kiran Musunuru on therapeutic gene editing. 🧬

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 12/09/2026

🧬 Session 7 at the #CCPConference: from gene discovery to targeted therapy. Carlo Rivolta explored the genetics of inherited retinal diseases, while David Staněk showed how patient-derived models enabled targeted ASO correction of a pathogenic PRPF31 splicing mutation. 👁️

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 12/09/2026

🔬 Technology Talks at the #CCPConference showcased tools enabling advanced preclinical research: multimodal PET/SPECT/CT & optical imaging, next-generation MRI, and digital PCR for rare disease research from disease modelling to therapy monitoring.

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 12/09/2026

🚀 Young scientists took the stage at the #CCPConference Flash Oral Presentations, sharing work on CRISPR founder mice, AI-driven immunophenotyping and a humanized mouse model of ultra-rare MFM13.

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 11/09/2026

🧬 This morning at the #CCPConference: from gene function to therapy development. Talks covered cognitive phenotyping & GABAA modulation in Huntington’s disease, allele-selective cityRNAs for SNVs, and an innovative AAV strategy for LAMA2 muscular dystrophy. 🔬🧪

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 11/09/2026

From genotype to phenotype 🧬 Thursday’s final session connected variant biology, precision medicine and therapy. Stanley T. Crooke presented n-Lorem’s approach to developing personalized ASOs for patients with pathogenic mutations—free for life. #CCPConference2026 #RareDiseases

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 11/09/2026

From disease mechanisms to therapies 🧬 Session 3 at #CCPConference2026 explored genome editing, liver disease, epigenetic disorders and renal cyst formation. Understanding when, where and how gene function goes wrong is key to effective intervention.

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 11/09/2026

From models to therapies 🔬 Yesterday’s Session 2 at #CCPConference2026 showcased how advanced preclinical models can bridge disease mechanisms and treatment: The key message: the right model can turn genetic insight into therapeutic opportunity. #RareDiseases #Phenogenomics

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 11/09/2026

We were delighted to open Thursday’s #CCPConference programme with a video greeting from Adam Vojtěch, Minister of Health of the Czech Republic, followed by opening remarks from Radomír Pánek, President of the Czech Academy of Sciences. A great start to a day of inspiring science! 🧬🔬

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 10/09/2026

🏆 Celebrating 10 years of CCP by recognising the people behind its success. At #CCPConference, CCP Director Radislav Sedláček presented Recognition Awards to three colleagues: Jan Procházka, Lenka Červená and Vendula Novosadová for their extraordinary contribution to building CCP. Thank you! 💙

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 10/09/2026

👏 Thank you, Tim Bertram, for joining #CCPConference and for an inspiring talk on translating cell & gene therapy discoveries into clinical and commercial outcomes. His presentation sparked a lively discussion and many questions from our audience!

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 10/09/2026

🧬 What can gene discovery reveal about retinal disease? At #CCPConference, 👉https://www.ccp-conference.cz Carlo Rivolta, PhD, will explore how molecular genetics of inherited retinal diseases provides new insights into retinal biology, disease mechanisms and therapeutic opportunities.

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 09/09/2026

🧬 When can treatment still change the course of neurodevelopment? At #CCPConference, 👉https://www.ccp-conference.cz/ Hans Tómas Björnsson, MD, PhD, will explore therapeutic windows in histone methyltransferase disorders and evidence that epigenetic disease may remain reversible.

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 08/09/2026

🧠 Meet Dr Mariah Lelos, Cardiff University, at #CCPConference 2026! She will present how longitudinal cognitive phenotyping in a mouse model of Huntington’s disease reveals deficits before motor symptoms, and how GABAₐ modulators may improve cognitive function. 🔗 www.ccp-conference.cz/programme/

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 07/09/2026

CCP joins the @INFRAFRONTIER webinar on Complex In Vitro Modelling, 19 Oct. Dr. Lenka Hromádková will present “iPSC Generation and Quality Control” and their applications in disease modelling. 👉 www.infrafrontier.eu/date/webinar...

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 07/09/2026

Meet our speaker: Kiran Musunuru! 🧬 At #CCPConference2026, he will explore therapeutic gene editing for cardiovascular & metabolic diseases, including emerging platforms for personalized gene-editing therapies. From human genetics to transformative treatments. 👉https://www.ccp-conference.cz/

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 04/09/2026

Meet our speaker: Stanley T. Crooke! 🧬 Founder of n-Lorem, he pioneered antisense therapeutics. At #CCPConference2026 👉https://www.ccp-conference.cz/, he will present the n-Lorem approach to developing personalized ASOs for patients with nano-rare diseases—and providing them free for life.

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 04/09/2026

Meet our speaker: Tim Bertram! 🔬 At #CCPConference2026 👉https://www.ccp-conference.cz/, he will explore how scientific discoveries become technologies—and ultimately medicines, highlighting our collaboration on UMOD & MUC1 rat models for rare kidney disease. 📍Prague & Online

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 22/07/2026

📢 We're hiring! The CCP is looking for two scientific leaders: 🧬 Head of the Transgenic & Archiving Module (TAM) 🧫 Head of the New Approach Methodologies (NAM) Module More & apply: 🔗 TAM: www.phenogenomics.cz/2026/07/head... 🔗 NAM: www.phenogenomics.cz/2026/07/head... #Hiring #BiomedicalResearch

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 17/07/2026

📢The 8th CCP Phenogenomics Conference 2026, 9–11 Sept, Prague & Online Rare and genetic diseases, experimental models, gene and cell therapies, and personalised gene editing. 👉Programme & registration: www.ccp-conference.cz #RareDiseases #GeneTherapy #Phenogenomics

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 17/06/2026

🎉 BIOCEV celebrates 10 years of biomedical research excellence. Proud to be part of this success story, CCP has grown into one of Europe’s leading phenogenomics centres, advancing rare disease research, gene therapies, and infectious disease studies. 🧬🧩🦠 #BIOCEV10 #CCP

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 09/06/2026

On June 4, 2026, we welcomed U.S. Ambassador to the Czech Republic Nicholas Merrick and Tuba Fehr (Program Director at NIBIB) to our center. We were pleased to showcase our unique research infrastructure, incl. a rare behind-the-scenes look beyond the phenobarrier. #Science #ResearchInfrastructure

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 09/06/2026

Thank you to everyone who visited the Czech Centre for Phenogenomics at Veletrh vědy 2026! 🧬🔬 Special thanks to our CCP volunteers for creating such fun, interactive experiences for visitors of all ages. Your enthusiasm made science engaging, inspiring, and memorable! #ScienceForAll

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 04/06/2026

🔬🧬 Meet science up close at the Science Fair 2026 in Prague! Visit the CCP booth (no.5, hall 2) and discover the world of genetics through hands-on activities for all ages: Create and explore cells; Try a BSL3 lab photo corner; Test your senses and learn about phenotyping; Explore genes.

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 01/06/2026

Marian Hajduch, the director of EATRIS-CZ opens the EATRIS conference with great overview of the infrastructure activities.

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 20/05/2026

A customer satisfaction survey about our services is now available on the CCP website: www.phenogenomics.cz/request-for-... We’d appreciate your feedback. Thank you for helping us improve our services! 👉https://forms.office.com/e/AW3Sc1QbX8

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 04/05/2026

We were happy to host the winning schools of the Hejbni vědou project by Asgent at CCP. Jan Procházka (Deputy Director) introduced CCP with just a marker and a whiteboard, to prove we didn’t prepare anything with AI 🙂, followed by a lab tour offering a closer look at real-world biomedical research.

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 31/03/2026

New interim results from the RD-Factory 3rd call are out! Selected rare diseases span neurodevelopmental, metabolic & neuromuscular conditions, driven by collaboration between scientists, clinicians & patients. The call is still open until Dec 2026 👉 www.phenogenomics.cz/2026/03/inte...

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 23/03/2026

Public debate by Association of Gene Therapy at the Václav Havel Library highlighted a key challenge: turning cutting-edge genomic research into real treatments. Our Director R. Sedláček and Deputy J. Procházka shared insights on bridging science and patients. www.ceskatelevize.cz/porady/16550...

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 12/03/2026

We’re grateful to the Hanácký Mushers Club for organizing HMC Charity Day 2026 in support of research on Harlequin ichthyosis. 🐕🏃‍♂️ 📅 April 11, 2026 📍 Moravský Beroun 🏃 Charity run & canicross More about the event: www.phenogenomics.cz/2026/03/hmc-... Sport, dogs, and science for a good cause. 💙

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 11/03/2026

We are pleased to be a partner in the Gene Age 2.0 project (organized by ASGENT), an educational initiative that brings together scientists, patients and patient organisations to improve how complex scientific and health topics are communicated to the public. www.phenogenomics.cz/2026/03/proj...

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 28/02/2026

On Rare Disease Day, we hosted “Rare, Close to Science”, an expert discussion bringing together researchers, students and patient representatives to explore the future of diagnostics and therapy development. More 👉https://www.phenogenomics.cz/2026/02/rare-disease-day-2026-rare-close-to-science/

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 12/02/2026

Behind every rare diagnosis is a real story. Join us for Rare Disease Day 2026 – expert discussion (Feb 25) & Open Day with lab tours (Mar 12). Let’s connect science and hope. Free registration in CZ: forms.office.com/e/MJgTxAwPmx Free registration in ENG: forms.office.com/e/1pHFv1BbiZ

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 09/02/2026

🎉 10 years of the Czech Centre for Phenogenomics (CCP)! This year marks 10 years since the establishment of CCP. In our January e-newsletter, we look back at the journey so far and highlight key milestones and achievements from the past decade. 👉 Read more: www.phenogenomics.cz/newsletter/p... 🎈

phenogenomics.cz

Phenogenomics e-Newsletter 1/2026 - Czech Centre for Phenogenomics

From vision to excellence: Celebrating 10 Years of CCP RD-Factory A Decade of Phenotyping Excellence at CCP High-Impact Science: CCP’s Contribution to the World’s Leading Journals Bridging the Gap…

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 03/02/2026

🎉 The Czech Centre for Phenogenomics (CCP) celebrates 10 years as a leading European centre for advanced disease modelling and phenotyping. From a small transgenic unit to one of Europe’s most modern infrastructures with ~145 experts. Read more: www.phenogenomics.cz/2026/01/from...

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Czech Centre for Phenogenomics (CCP) @czphenogenomics.bsky.social · 03/02/2026

🧬 Czech scientists from the Czech Centre for Phenogenomics (CCP) and the First Faculty of Medicine, Charles University (BIOCEV) created an accurate mouse model of Diamond-Blackfan anemia, enabling safer, more effective treatment research. Published in HemaSphere: doi.org/10.1002/hem3...

doi.org

Rps19R67∆ mutation creates a model of Diamond–Blackfan anemia and reveals downstream mediators of p53 pathway

Diamond–Blackfan anemia (DBA) is a rare bone marrow failure syndrome accompanied by cardiovascular, skeletal, and urogenital abnormalities. Most of the affected individuals carry mutations in ribosom...

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