#rarediseases 搜尋結果

"Lived Experiences in Action: Advocacy Update Across Rare Diseases" led by FDA's Michelle Campbell, and C-Path's Director of Advocacy, Thom Hart. Learn more from #PatientAdvocates on their living experiences with #RareDiseases. Watch now: f.mtr.cool/cumgnuucgy

🌟 Big move in #Biotech @ChiesiGroup & @arbortx join forces in a $2.1B alliance to fight #RareDiseases 🤝 By merging Chiesi’s expertise with Arbor’s next-gen #geneediting, this deal could open new doors for millions awaiting better treatments 💥💚 biospace.com/business/chies…

We are delighted & proud to announce that Dr. Krishnaji Rao, Secretary, IORD, represented India at the Asia Pacific Webinar on WHA Resolution for Rare Diseases (Oct 9, 2025) — strengthening India’s voice in advancing regional rare disease priorities. #RareDiseases #IORD

We are delighted to announce that “I AM NOT ALONE.. INDIAN ORGANIZATION FOR RARE DISEASES” has been officially registered as a Service Mark by the United States Patent and Trademark Office. A special thanks to everyone who has been part of our journey. #RareDiseases #IORD

Honoring Michael Gelb, PhD, recipient of the 2026 WORLDSymposium™ Catalyst Award. His innovations in Newborn Screening have reshaped early diagnosis for lysosomal diseases across the globe. Read the full announcement: hubs.li/Q03N7lB60 #WORLDSymposium #RareDiseases

2/3 This is more than a patent case. It blurs the line between intellectual property and human survival. For many families with Spinal Muscular Atrophy, this ruling isn’t “someday” — it’s NOW. Innovation must be rewarded, but never at the cost of access. #rarediseases

Happy to be this weekend at the International Porphyrias Symposium 2025 as a Keynote speaker talking about our efforts to improve awareness and molecular diagnostics of #RareDiseases in Latin America and the Caribbean through the #CEPCAL collaborative. @CEPCAL_LATAM @ReMexER1

📢 We're looking for patients 📢 Do you have a DNM1L mutation? Do you know someone who has it? We're looking for you! 👈 Email us at 📩 [email protected] and we'll explain it to you. 📲 Or share this post so we can reach more people. #share4rare #rarediseases #DNM1L #mutations

⭐️ New IRDiRC Publication ⭐️ 💡Regulatory sandboxes: A new frontier for rare disease therapies Flexible, structured spaces to safely test regulatory innovation for #RareDiseases. 🌍 Featured at the 2025 IRDiRC CA & SC meeting in Brussels. Read Now 📕sciencedirect.com/science/articl…

🎤 Lorenzo d’Antiga shared 4-year follow-up data from the GNT-012-CRIG study at #ESGCT2025! 🔬 Genethon’s GNT0003 gene therapy shows durable benefits for patients with Crigler Najjar syndrome 💡 Hope grows for this rare liver disorder 💙 #GeneTherapy #RareDiseases #CriglerNajjar

✨ 20% early bird offer ends TONIGHT for #WODCEU!💫 Secure your spot here: buff.ly/rRfTWEI #WODC #RareDiseases #PharmaNetworking #PatientAdvocacy

Disrupting Gene Therapy: Inside Jim Wilson’s Rare Disease Revolution #rarediseases #lisosomales insideprecisionmedicine.com/topics/precisi… vía @Inside_PM

💜 Even better news from the #Unicas_Hackathon! 5⃣ families have finally received a diagnosis after 48 hours of intense collaboration among international experts A huge step forward for #RareDiseases and, most importantly, for these children Proud to be part of this initiative!

In just under two weeks, we will be at the @CF_Foundation's North American Cystic Fibrosis Conference (NACFC). Make sure to stop by our booth to chat with the Arcturus team! #RareDiseases #CysticFibrosis #CF #CFTR #mRNA #mRNATherapies #NACFC #mRNATherapeutics #Arcturus

Remembering John Mills MBE today, especially for his services to people with #rarediseases through his work for all those diagnosed with #Vasculitis

Him Rare Care Foundation 🌍💙 #HealthForAll | #RareDiseases

8/7/14: DX'ed with #NMOSD 8/7/25: In remission for ~7 years thanks to modern medicine, A+ care, luck and a lot of work. Sadly, this isn’t the reality for most living w/ #rarediseases. Let's keep doing all we can to ensure patients are able to thrive and not just survive 🤍

🧡 “Patient safety from the start!” is the theme of #WorldPatientSafetyDay 2025. For children with #RareDiseases, newborn screening = patient safety. 🔎 Early detection prevents harm. 💊 Timely care saves lives. 💙 Safe care must begin at birth.

Following the WHA Resolution, Malaysia, Ireland & Luxembourg launched new national plans for rare diseases—strengthening diagnosis, care & awareness. A global step forward for patients worldwide. 📖 bit.ly/3IMxJfU #RareDiseases #LymphaticDiseases #GlobalHealth

💜 Even better news from the #Unicas_Hackathon! 5⃣ families have finally received a diagnosis after 48 hours of intense collaboration among international experts A huge step forward for #RareDiseases and, most importantly, for these children Proud to be part of this initiative!

📣 Parents of kids with rare/undiagnosed conditions — your experience can drive change! Tell us what helps & what’s missing. Your answers shape better support & policies. 👉Take the #RareBarometer survey: tiny.cc/RB-MH 🌍In 25 languages #RareDiseases #Advocacy

🔮 Meet Delphi-2M, the AI model that can predict risk for 1,000+ diseases years in advance. 🧩 Promise: early interventions, precision prevention. But we must tackle bias, ethics @AEGHgenetica @Aecom_EIM @NoInvisibles @Info_Rares #AIinHealth #PredictiveMedicine #RareDiseases

💜Latest update from #Unicas_Hackathon: 3⃣ diagnoses already achieved! 💪In the months ahead, we hope to find answers for the remaining families, with the collaboration of this team of over 100 experts and the genomic data sequenced and analysed by CNAG #RareDiseases #Research

This week, MRCC hosted Dr Susan Walker from Genomics England on boosting genome sequencing diagnostics for rare disorders. The online seminar reached UK hospitals and was part of our Genomics & Rare Conditions Lunch series. #Genomics #RareDiseases

We are pleased to share that #Luxembourg has launched its 2nd National Plan for #RareDiseases (2025–2029)🎉 Luxembourg’s commitment is an encouraging example, and we urge policymakers across Europe to prioritise similar, ambitious national strategies. 👉 go.eurordis.org/NationalPlanLu…

Get creative for a cause — the Rare Diseases Are Not Rare! 2025 Challenge Prize Competition launches on Sept. 15, 2025! Submit your artwork to help raise awareness about #RareDiseases, the people they affect & the need for research & development of treatment strategies for…

At iPain, we’re proud to support #Dazzle4Rare2025! Did you know 1 in 10 people live with a rare disease? This week, we’re shining a light on #RareDiseases and #Undiagnosed conditions to raise awareness and empower individuals. Share a fact or your story to raise awareness!…

Earlier this week, I had the privilege of presenting a webinar, “Applying Patient-Level Data & AI in Rare Diseases & Oncology” 💡We demonstrated how AI can reduce up to 40% workloads for key functions in Pharma. See full highlights on my LinkedIn. #RareDiseases #Oncology

💡 From mystery to medicine: Inherited Metabolic Diseases went from fatal puzzles to treatable conditions in just 60 years.This is a story of relentless curiosity, heartbreak and scientific triumph by one of the greatest pioneers: Dr Jean-Marie Saudubray #RareDiseases #MedTwitter

Welcoming AstraZeneca India as our Gold Partner for the National Conference on “Making Rare Care Possible,” organized by FICCI with NITI Aayog & IMPF to drive progress in rare disease care. Register now: lnkd.in/g9evPNW5 #RareDiseases #Healthcare

Did you know 1 in 10 people live with a rare disease? This #Dazzle4Rare week, I’m educating about the challenges of #Undiagnosed and #RareDiseases. Let’s break the stigma and advocate for better care! Share a fact or resource to spread awareness. #Dazzle4Rare2025…

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis. #RareDiseases #GeneticVariants #SequencingStrategies #Genomics @GenomeMedicine genomemedicine.biomedcentral.com/articles/10.11…

It’s #Dazzle4Rare time! Let’s unite to shine a light on #RareDiseases and #Undiagnosed conditions. Who in our community dazzles you with their strength? Tag them below and share their story to spread hope! Join the movement on any platform using these hashtags. #Dazzle4Rare2025…

The Rare Diseases Are Not Rare! Challenge Prize Competition is back and we are looking for artists! Submit your artwork to help raise awareness about #RareDiseases and the need for treatment strategies. Learn more about how to enter your artwork by Jan. 2, 2026:…