Patient (representative) or physician? Help KCE to map unmet medical needs for people with a rare disease. #RareDisease

Watch the insightful @EJPRareDiseases interview with Veronica Popa, a patient expert, as she delves into the subject of patient engagement in pre-clinical therapy development, the challenges, and the impact of EJP RD funding ▶️youtu.be/n1DSTLwTnuM

Don’t let your posts about the 2024 ACMG Annual Clinical Genetics Meeting get missed! Be sure to use the official meeting hashtag – #ACMGMtg24. See you in Toronto on March 12-16! acmgmeeting.net MTCC Events

Can we agree on genomic #newbornscreening? Downie et al. curate a gene list for #genomic NBS that could be used for international harmonization bit.ly/49rukLu Prof Zornitza Stark Seb Lunke Lilian Downie Sophie Bouffler Dr Ari Horton David Amor Dr Alison Archibald

Join European Society of Human Genetics (ESHG), thewhitworthgroup and eshg_young in listening to our brillinat experts Peter Krawitz, Tanja Zdolsek Draksler, Kleefstra Syndrome #kleefstra for "E2 - Human Genetics and Artificial Intelligence" at eshg.buzzsprout.com/1931247/145530…

We lost our inspiring and generous friend, mentor and colleague Ludwine Messiaen. My thoughts go to her beloved family and friends. We will miss you and your brilliant mind, creativity, and incredible strength. Thank you for everything, and rest in peace. #EndNF Children's Tumor Fdn

linkedin.com/posts/college-…

📢 Artsenkrant launched a special issue on #rarediseases. Read the interview with Elfride De Baere, president of the College Genetics & Rare Diseases, on the memorandum on Rare Diseases in Belgium 👇 rb.gy/sj1mm9 #RareDiseaseDay #DeelJeKleuren 💚 💙 💜 rarediseaseday.be

Missed the recent high profile ACMG Points to Consider document on “Clinical utility of polygenic risk scores for embryo selection?” This GenomeWeb article (subscription necessary) provides a detailed overview & shares that an accompanying paper on ethical issues is forthcoming.

⏰Deadline reminder! There's still time to participate in our 2024 DNA Day Essay Contest! Open to high school students worldwide, this contest celebrates DNA science and invites students to explore genetics concepts. Submit your essays before March 6: ashg.org/dna-day/🧬📝

#RareDiseaseDay There are over 6,000 rare diseases affecting more than 500,000 Belgians. Let's unite in spreading awareness, advocating for change, and supporting those navigating the unique challenges of rare diseases. #DeelJeKleuren #PartageTesCouleurs #raresensemble

Today is #RareDiseaseDay! As part of a collection from BMC & Springer Nature (go.nature.com/3IjIcLM), three of our reviews will be free for 2 weeks! #RareDiseaseDay2024

Free for 2 weeks: Genomic newborn screening for rare diseases go.nature.com/3PxIkMH #Review by Prof Zornitza Stark & Richard Scott University of Melbourne Australian Genomics Murdoch Children's Research Institute (MCRI) Great Ormond Street Hospital for Children UCL Great Ormond Street Institute of Child Health Genomics England #RareDiseaseDay2024 #RareDiseaseDay

Types of single-cell eQTLs - Figure from our #Review 'Single-cell genomics meets human genetics' go.nature.com/3LjdSmL by Anna Cuomo, Aparna Nathan, Soumya Raychaudhuri সৌম্য রায়চৌধুরী, Daniel MacArthur and Joseph Powell Free to read here: rdcu.be/darro

ACMG thanks its members and all those who work every day to care for and improve the lives of patients and families living with rare diseases. #RareDiseaseDay # #ShareYourColours Rare Disease Day National Organization for Rare Disorders (NORD)

In recognition of #RareDiseaseDay, we are highlighting the new ACMG Therapeutics Bulletin – a FREE source of info on therapeutic agents for genetic conditions that is published in #GIMOpen. Find the four published to date here: bit.ly/TherBulltn Rare Disease Day @gimjournal

#RareDiseaseDay #ShareYourColours UZ Gent @CZZ_PrOZA 🧡💙💚💜

🚀 Join us for the ERDERA launch event! 🗓️ 28 Oct 2024 ⏰ 14:00-16:15 CET 💻 Online Don't miss insights from top experts & learn how ERDERA is set to change the landscape of rare diseases research! 👉 RSVP here:loom.ly/roZC5QM #RareDiseases HaDEA

🚨Exciting news! 📢ERDERA is pre-announcing its 2025 Joint Transnational Call for Proposals on Rare Disease Therapies! Read more here: loom.ly/-YEsh3Y #RareDiseases #Research #JTC2025 #ERDERA Bildungsmisererepublik Deutschland - BRDigung

🌍 Join us on Oct 28 for the launch of #ERDERA! 💡 Learn how we plan to transform the lives of 30M rare disease patients across Europe. Register now 👇 📅 Oct 28, 2024 ⏰ 14:00-16:15 CET 🔗loom.ly/roZC5QM #RareDiseases #Innovation #Healthcare