“These genetically modified models are extremely helpful,” said neuroscientist Dr. Jill Weimer. “In the grand scheme of things for drug development, they’re going to be absolutely essential.” bit.ly/3TPwlKI

14th Annual Great Plains Rare Disease Summit Spotlight Dr. Catherine Nelson is a Pediatric Hematologist Oncologist at Sanford Children's Hospital. She looks at predisposition syndromes to MDS and rare pediatric malignancies. Registration link: app.smartsheet.com/b/form/0277600…

Batten Disease Awareness Day in Nebraska offers hope for families battling a terminal neurological disease | Click on the image to read the full story ketv.com/article/nebras…

NCATS NIH U.S. FDA Progeria Cincinnati Children's United Porphyrias Association Representatives from Sanford Research, Global Genes, GW University, U.S. FDA, and NCATS NIH address and react to challenges in registry and natural history data collection.

IRDiRC is co-hosting, together with Hope for Rare Foundation and Fudan University, the Global Rare Diseases Research Symposium & The Second China Rare Disease Research and Translational Medicine Annual Conference from May 23rd to May 25th

As chair of the International Rare Disease Research Consortium #IRDiRC proud to be a host and speak at the opening ceremony for the 2024 Global Rare Diseases Symposium. #RareDiseases

2 new innovative publications: 1: Getting your DUCs in a row - standardising the representation of Digital Use Conditions nature.com/articles/s4159…: Common conditions of use elements. Atomic concepts for consistent and effective information governance nature.com/articles/s4159…

The 8th Annual Eastern South Dakota Research Symposium was hosted last week by Sanford Research, in collaboration with SDSU, USD, and Augustana University. Thank you to our participants, collaborators and sponsors of this event!

Exciting news! A new IRDiRC paper on "Global health for rare diseases through primary care" is now available in The Lancet Global Health. Discover how primary care plays a vital role in rare disease management and the future of genetic screening. 🌍👩‍⚕️👨‍⚕️ Read more: sciencedirect.com/science/articl…

Welcome to the 2024 Annual Family Conference, Dr. Thomas Wishart, Dr. Ineka Whiteman, Dr. David Pearce, and Dr. Jonathan Cooper! Each will present during the science/research session on Friday, July 12. 🔗 ow.ly/TFVV50SlY9Q #BDSRAconference2024 Jonathan Cooper David Pearce

New #IRDiRC publication: "Newborn screening in Mexico and Latin America: present and future" explores the progress and challenges of NBS programs in the region. A must-read for public health advocates! oaepublish.com/articles/rdodj… #rarediseases

🧬IRDiRC's Special Edition on Newborn Screening - Real World Applications and Technologies is now out! Check out the eBook available for free in Rare Disease and Orphan Drugs Journal : f.oaes.cc/read_online/sp…

🎙️ The New Data Sharing Playbook developed by CCC member organization EFPIA is now available! Have a look here: ihi.europa.eu/sites/default/…

🌟 Get inspired by the leading voices in rare diseases at the RE(ACT) Congress & IRDiRC Conference 2025! 🌟 Explore the full list of speakers and topics here: lnkd.in/es7s8Vpd Standard registration EXTENDED to January 31, 2025! ✅Register now lnkd.in/ewt_Uq2Y

As we welcome in 2025, we would like to take a moment to reflect on the incredible journey we've shared throughout 2024. The collective efforts of IRDiRC are really gathering steam and we look forward continuing growing the impact and influence you bring to IRDiRC.🌍🤝

🖌️ Mark your calendars for the 8th Edition of the RE(ACT) Congress and IRDiRC Conference on 5-7 March, 2025🗒️ 📌 Register now and join us in Brussels: lnkd.in/gnPswjg Check out the programme of Session B "Empowering Data". ⬇️

✍ Apply now to be part of the new IRDiRC activities 🌐 The call for members for one Working Group and four new Task Forces is ongoing! 🗓️ Have a look at the activities planned for 2025↘️ #IRDiRC #TaskForces #Roadmap2025 #rarediseases

📣 [NEW REPORT] A deep dive into the crucial role of industry in Public-Private Partnerships for #RareDiseases research! 🚀 📘 A must-read to understand industry’s impact in successful PPPs. Read the full report: irdirc.org/wp-content/upl… #PPP #RareDiseaseResearch #Innovation

⭐ New IRDiRC Publication: "From roadmap to a sustainable end-to-end individualized therapy pathway" ⭐ 🌍 Let’s make individualized therapies a standard, not an exception. 🔗 Read more: journals.sagepub.com/doi/10.1177/26… #RareDisease #Nof1 #PrecisionMedicine #IRDiRC

📢 Exciting news! Dr. Helen Malherbe is the new Vice Chair of the Interdisciplinary Scientific Committee (ISC)! 🌟 Her appointment brings valuable expertise and vision to the ISC, where she will help shape strategic direction. 🔗 irdirc.org/isc/ #ISC #IRDiRC