🚀 Exciting News! 🚀 Registration is NOW OPEN for the TBX4Life Conference 2025 in beautiful San Francisco 🌉 on March 25–26! Don’t miss out – register today! 👉 🔬 Submit your abstracts by Dec 20 and join 15+ expert speakers! 📅 March 25: Biology of TBX4 Workshop 📅 March 26: Main Conference with Translational Science & Clinical Research Sessions + Poster Exchange Proud to partner with Jeff Fineman from @UCSF for this pre-conference event before the 18th Intl. PVD Conference! (

It was a pleasure to participate in 'Shaping the Future of Rare Pediatric Lung Disease Research Summit' which was organised by chILD Foundation US ( and sponsored by @ChanZuckerberg grant. Good opportunity to share TBX4Life story and work, and to highlight common challenges for research: - common international data registry - common biobank, for DNA and for iPCS - better processes for biospecimen sharing - ability to store and process (also with AI) large data sets Very important initiative, and we all hope it will help us to find better therapies faster #strongertogether #rarelungdisease #TBX4Life #openresearch #CZI

RT @studyrare: Genes associated with absent kneecaps "Lower To One Knee" LMX1B = Nail-patella syndrome TBX4 = Small patella syndrome ORC1 =…

RT @RephyneRegistry: Was your baby diagnosed with pulmonary hypertension (PH)? We are looking for parents of babies with PH to help our r…

RT @fundacionhp: Os dejamos algunas imágenes de la webinar de ayer: Fundamentos de las pruebas genéticas en #𝐇𝐢𝐩𝐞𝐫𝐭𝐞𝐧𝐬𝐢𝐨́𝐧𝐏𝐮𝐥𝐦𝐨𝐧𝐚𝐫. Felicit…

RT @PHAssociation: #PHA is partnering with @TBX4Life and @fundacionhp for the upcoming “Fundamentals of Genetic Testing” #PHALive webinar t…

RT @PHAssociation: #PHA is partnering with @TBX4_Life and @fundacionhp for the upcoming “Fundamentals of Genetic Testing” #PHALive webinar…

@chrmosimann @Rob_Lalonde89 And how's about this one? :) #zebrafish #tbx4 #genetherapy #cat

RT @fundacionhp: No puedes perderte esta webinar en colaboración con @PHAssociation y @TBX4_Life tratando el tema "Fundamentos de las prueb…

RT @PHAssociation: #PHA is partnering with @TBX4_Life and @fundacionhp for the upcoming “Fundamentals of Genetic Testing” #PHALive webinar.…

FINAL Stop 7: Philadelphia! Attended the Rare Drug Development Symposium organised by @GlobalGenes and the Orphan Disease Center at the University of Pennsylvania @ODC_UPenn 🧬 This event equips patient advocates with knowledge, skills, and connections to advance therapy development for their communities. This year's theme? Innovative Ideas from Next Generation Change-Makers! 💡 Here's a summary of participation: 1️⃣ Exploring the Critical Need for Patient-Led Data Initiatives: delved into patient identification, different types of data, and how to use it for disease modeling and therapeutic strategies. 📊 2️⃣ What Will $100K Buy You? Explored emerging financing models and how to leverage funding for rare disease projects. 💰 3️⃣ Rare Resource Fair: Gathered insights and connections to strengthen research strategies and decision-making processes. 🛠️ 4️⃣ Networking: This was a pivotal part of the Event. Besides others, connected with organisations like the LAM Foundation, Chan Zuckerberg Initiative, and NCATS. Specifically, discussions with the LAM Foundation revolved around organising tissue collection for TBX4 research, while talks with the Chan Zuckerberg Initiative explored potential funding opportunities. Additionally, engaged with NCATS, an institute under NIH in the US, to discuss program management support for TBX4 research. 🤝 #DrugDevelopment #RDDS #RAREDrugDevelopment #CureTBX4 #CurePH

Stop 6: Very productive and inspiring Workshop in Cincinnati in @CincyChildrens! The whole day of Science, including iPSC models and organoids construction, computational modelling and the use of AI in research, pathology and imaging, TBX4 Lung Image website and much more! The whole team in Cincy, also Eric Austin @ericdaustin from @VUMCchildren and Anton Morkin. Key takeaway: - There’s a high interest and commitment from the team in Cincinnati to support TBX4Life mission - The science these days moves way faster, offering more powerful tools for research - There are many research groups around the world who are now interested in TBX4 gene and its pathways - this for sure accelerates the research already and enables more collaboration - TBX4 is an important gene in the lung development, research of its biology and pathways can bring value beyond TBX4 Syndrome, to other pulmonary vascular or diffuse lung diseases, like for PH or Pulmonary Fibrosis Thanks a lot to Dr. Jeff Whitsett for the support of TBX4Life, and for organising and hosting this great workshop! Also thanks a lot to the entire Team: Jichao Chen, Anne Perl, Kathryn Wikenheiser-Brokamp, Mingxia Gu, Minzhe Guo, Simon Yifei and others!!

Stop 5: Boston - Part 2: Open Source approach for Open Research? - See CReM!! Would love to have such a capacity for TBX4 Research & TBX4 iPSC lines! I got an incredible tour by Andrea Alber and Marianne James from @CReM_Boston. Thank you so much, Darrell Kotton @Kottond , for supporting our mission and for organizing this! It was amazing to see the process of creation of iPSCs. These stem cells, reprogrammed from blood cells, hold immense potential. Researchers can sculpt them into lung cells, paving the way for drug trials. Science continues to astound with its boundless possibilities! #openresearch #tbx4 #ipsc #Science

@PulmonaryHIndia @rarediseasesind @ORDIndia @rarediseaseday @RareConnect Hi Hari! Thank you for sharing your story and for raising awareness about Tbx4 Syndrome! Please check and we are keen to connect with you! Email info@tbx4.org

RT @PulmonaryHIndia: @TBX4_Life

Great Collaboration with @PHAssociation and @fundacionhp ! Don't miss the chance to learn more about Pulmonary Hypertension with genetic roots!

Stop 5 - Boston, Part 1: It was very inspiring to meet with Dr. Wendy Chung @WendyKChung and Dr. Mary Mullen from @BostonChildrens. Very valuable talks about Heritable PAH, about TBX4-PAH specifics and about important role of patient advocate initiatives, such as TBX4Life. Thank you both for devoting a time for TBX4Life! Great dinner also with Dr. Mullen and her husband, Dr. Harold J. Burstein @DrHBurstein - thank you!! Wendy Chung: 'We should be much faster with the research for Heritable PAH’. It is very important to have more affected family members tested genetically' Mary Mullen: “TBX4Life is a very welcome resource, both for patients and for professionals. The most important contribution of TBX4Life is to connect clinicians and scientists and accelerate research towards better therapies”.

Watch the interview with Vladimir Kalinichenko, MD, PhD, is director of the Phoenix Children’s Research Institute at the University of Arizona College of Medicine I met with Dr. Kalinichenko in Phoenix Children's Research Institute, which he leads. We talk about drug development approaches for developmental lung diseases, similarities and differences between FOXF1 and TBX4, about the role TBX4Life plays in patient-oriented research and necessity to work together towards a Cure

Stop 4 - @ChildrensColo : Discussed clinician unity with @DunbarIvy, strategized research acceleration with @SteveAbman, explored crucial role of tissue analysis with Csaba Galambos, Additionally, delved into zebrafish experiments and their with @chrmosimann Impressive Support!