Baby KJ, the first person ever to undergo personalized #GeneEditing, took his first steps! ❤️ Babies with #CPS1 have a 50% chance of living past one week. This week, thanks to years of #RareDisease research, investment and advocacy, KJ will celebrate his second Christmas. people.com/first-baby-t...

Feb 28 is #RareDiseaseDay! Help raise awareness by lighting up local buildings and monuments in the official colors. 💡 You can find instructions, templates, and more here: rarediseases.org/rare-disease... Tag @RareDiseases and use #LightUpForRare when you post your photos on Feb 28!

We’re proud to be named a NORD® Rare Disease Center of Excellence, a network of 46 institutions nationwide advancing expert care + research for rare disease patients. https://cmkc.link/3Y64yZ0 @nordrare.bsky.social #RareDisease

The future of #RareDisease care is here. Curative therapies, AI-driven discovery, individually-tailored precision medicine, remote clinical trials, and equitable access models are no longer aspirations. They’re happening. Read more in our 2025 #NORDSummit recap: rarediseases.org/2025-nord-br...

Thank you @rarediseaseadvisor.bsky.social for giving everyone a play-by-play of our 2025 #NORDSummit! Read it for the latest in #RareDisease research and advocacy, orphan #pharmaceuticals, gene and cell therapy, and more. Follow NORD for more updates like these year-round! @nordrare.bsky.social 🧡

That’s a wrap on the 2025 #NORDSummit — two incredible days of connection, collaboration, and commitment to shaping the future of #RareDisease research, treatment, and policy. #NORD CEO Pam Gavin: “We're living in challenging times, but the rare community continues to show what unity looks like.” 💙

#NORDSummit: Pamela Gavin, CEO of @nordrare.bsky.social, speaking Oct. 20, 2025, at the opening session of NORD’s 2025 Breakthrough Summit in Washington, D.C. Image & quote taken by Senior Correspondent, Larry Luxner #RareDisease #MedSky #RareSky

#NORDSummit: Reenie McCarthy, CEO of Stealth BioTherapeutics, speaking Oct. 20, 2025, at the @nordrare.bsky.social 2025 Summit about the FDA’s Sept. 2025 approval of the Stealth therapy elamipretide (#Forzinity™) for #BarthSyndrome, an ultrarare, progressive genetic disease.

#NORDSummit: @klobuchar.senate.gov (D-Minnesota), addressing the 2025 @nordrare.bsky.social Breakthrough Summit on Oct. 21 in Washington, D.C. Image and quote taken by Senior Correspondent, Larry Luxner. #RareDisease #MedSky #RareSky

U.S. Senator Amy Klobuchar, @klobuchar.senate.gov @amyklobuchar.com, Co-chair of the #RareDisease Congressional Caucus, surprised our #NORDSummit to underscore the bipartisan, national imperative to support rare patients right now, and to deliver treatments for the 95% of #RareDiseases without them.

#NORDSummit: Lee Greenwood, whose 5-year-old daughter Noa was born with #CanavanDisease, a severe #GeneticDisorder found mainly among Ashkenazi Jews. In June 2022, the girl received lifesaving #GeneTherapy and is now developing normally. @nordrare.bsky.social#NORDSummit#CanavanDisease#GeneticDisorder#GeneTherapy#RareDisease #RareSky #MedSky

A big moment for our team yesterday at #NORDSummit! 🦓 🌟 We shared two research posters, including our abstract on desmoid tumors, selected for the prestigious Lightning Round main stage! @nordrare.bsky.social#NORDSummit Dive into the full details below👇 🔗 bit.ly/42SXRfU 🔗 bit.ly/3Wi1o3B

#NORDSummit: Jackie Weinrich, senior health policy advisor to Rep. @dorismatsui.bsky.social (D-California), speaking Oct. 21 at the 2025 @nordrare.bsky.social#NORDSummitBreakthrough Summit in Washington, D.C. Image & quote taken by Senior Correspondent, Larry Luxner #RareDisease #MedSky #HealthcarePolicy

#NORDSummit: Shelley Bowen, director of family services and advocacy for the Barth Syndrome Foundation, which successfully lobbied for FDA approval of #Elamipretide for an X-linked disease that affects only 500 boys worldwide. @nordrare.bsky.social#NORDSummit#Elamipretide #RareDisease #BarthSyndrome #MedSky

We couldn't agree more. Shoutout to Avery, Emmelina, Christopher, and Micah! #NORDSummit #RareDisease

Learn how top #pharma executives and patient advocates are tackling the biggest challenges in #RareDisease care—and stay at the forefront of collaboration and innovation—by joining the #NORDSummit live from anywhere 🌍 Reserve your Virtual Pass: nordsummit.org

Next week's #NORDSummit features an entire hall of cutting-edge research on #RareDisease care, patient engagement, and policy. Virtual attendees can explore the virtual poster hall and connect one-on-one with presenters through the conference app! rarediseases.org/nord-breakth...

Meet the patient advocacy leaders shaping the future of #RareDisease care. At the 2025 #NORD Breakthrough Summit, they'll discuss clinical trial innovation, pediatric R&D, collaboration models, and more. Register to hear their voices and their visions: bit.ly/4lSAkDq

New #CME on #GiantCellArteritis highlights the importance of early diagnosis and sustained remission to prevent blindness, stroke, and relapse. Including updates on imaging, diagnostics, and targeted biologics. Enroll for free at @medliveofficial : 🩺 bit.ly/46cSDML

🚨 Big news! Dr. Jay Bhattacharya, Director of the National Institutes of Health (NIH) will deliver a special address to the #RareDisease community at the 2025 NORD Breakthrough Summit, Oct. 19-21 in D.C. This is your chance to hear directly from #NIH leadership! Register to attend: bit.ly/4lSAkDq

Final week of #NORDSummit early bird pricing! Save hundreds when you attend the most anticipated #RareDisease conference for the #pharmaceutical, #biotech, and #MedicalDevice industries. Register your team for the NORD Rare Diseases & Orphan Products Breakthrough Summit today at nordsummit.org.

How can #AI advance patient-centered drug development? #RareDisease experts will tackle this at the 2025 NORD Rare Diseases & Orphan Products Breakthrough Summit this October during a session led by Tracey Sikora, VP of Research & Clinical Programs at #NORD. Learn more and RSVP: nordsummit.org

Media passes available! The #NORD Breakthrough Summit, Oct. 19-21 in D.C., offers direct access to #RareDisease experts, patient advocates, industry executives, regulatory leaders, and investors to explore the latest developments in rare science, policy, and more. rarediseases.org/nords-2025-r...

ACPMP is proud to fund two $50K Catalyst Research Grants through the @nordrare.bsky.social #RareDisease Research Program. These grants will support scientific and/or clinical research related to #AppendixCancer/PMP Apps due: October 12, 2025 Apply now: rarediseases.org/advancing......

On #NationalPatientAdvocacyDay, we celebrate every patient advocate. 💙 Whether dedicating a career or rising to an unexpected challenge, your courage, persistence, and heart drive change. Thank you for using your voice to uplift, fight, and lead the #RareDisease community. ✨ #ThankYouAdvocates

The landscape of #RareDisease diagnosis and treatment is rapidly changing. What do clinicians, health care administrators, insurers, and others working in #medicine need to know? Find out at the 2025 NORD Breakthrough Summit. RSVP for the #NORDSummit now: nordsummit.org

The National Organization for Rare Disorders (NORD) is excited to attend the @ncslorg.bsky.social 2025 Legislative Summit in Boston next week to advocate for critical state #RareDisease policies. If you’re attending, visit us in the #NCSLsummit exhibit hall! Details: www.ncsl.org/events/2025-...

Happening today at 2:30pm ET: A vital CME session on #IgAN care, covering mechanisms to management. Proud to partner with @kdigo.org & @nordrare.bsky.social Don’t miss it 🔗 bit.ly/44ZyEkg #Nephrology #CKD #MedicalEducation #CME #KDIGO #MedLive

New to your #RareDisease journey or years in, you’re not alone. Join #NORD on July 17 at 6 p.m. ET for “Finding Strength in Self-Acceptance”—a virtual talk on emotional well-being, self-advocacy & connection. RSVP: bit.ly/4nEeTXZ #RareDiseases #PatientSupport #SupportGroup #SelfAcceptance

New Yorkers! Are you passionate about #RareDiseases? Join the #NewYorkState Rare Disease Advisory Council! We’re looking for individuals from #NewYork with diverse #RareDisease perspectives & experiences to help shape policies that support rare New Yorkers. Apply now: forms.office.com/g/FVwD7VPteQ

Today our #RareDisease community received heartbreaking news. Newly passed legislation will create major barriers to #Medicaid access for millions, including those with #RareDiseases. This puts vital health coverage at risk for those who need it most. Hear more in #NORD CEO Pam Gavin’s message.

The #Senate passed legislation that, if signed into law, imposes dramatic and harmful barriers to #Medicaid for #RareDisease patients. Tell your Representative in the House to reject the Senate-passed bill! 1. Call and use this script: bit.ly/4k8Wsro 2. Send this NORD action alert: bit.ly/41uFH3W

NORD Rare Disease Center of Excellence @emorygenetics.bsky.social staff spoke at our #LivingRareGeorgia event! Dr. Hong Li, a Georgia #RareDisease Advisory Council member, discussed how a #CenterOfExcellence can help you access specialized care. Find one here: rarediseases.org/center-of-excellence

#NORD events like today's #LivingRareGeorgia patient and family meeting connect people living with #RareDiseases and doctors who treat them — like #geneticist Dr. Rossana Sanchez of @emorydeptofmed.bsky.social, a NORD Rare Disease Center of Excellence, pictured here (right) with a family she treats!

Tomorrow is #IPKUDay! Check out this great program from the NORD Rare Disease Center of Excellence at @emorygenetics.bsky.social. NORD offers financial assistance to #PKU patients in need. Apply here: bit.ly/4czUzRE If you live in #Canada, learn about the Canadian PKU Registry at pkuregistry.ca.

🚨 Attention #PublicHealth and #RareDisease Researchers: Share your groundbreaking work at the 2025 #NORDSummit! Submit your abstract by midnight, July 18 for display in the Poster Hall + a chance to present your #research on the main stage. Check out the categories and apply now: bit.ly/3LiYAw8

The #NewYork #RareDisease Advisory Council bill, #A1296A, may be on a debate list in Albany, but here's what's not up for debate: the daily realities of 1.8 million #NewYorkers navigating #RareDiseases. Ask for your Assemblymember's support TODAY: rareaction.org/take-action/#/252 #NYS #NYC #NYleg

If you live in the #Atlanta, #Georgia area, come meet your local #NORD Rare Disease Center of Excellence - the Emory University Human Genetics team, @emorygenetics.bsky.social at @emorydeptofmed.bsky.social and Children's Healthcare of Atlanta - June 27 at the Georgia Aquarium! Visit LivingRare.org.

Attention #sarcoidosis community! Attend the Global Virtual #StopSarcoidosis Summit, June 28-29, a virtual event offering countless helpful resources and 20+ live, interactive virtual sessions with world-renowned medical experts. RSVP here today: loom.ly/aLYtjh0 #FSR2025 #SarcoidosisSummit

We recently attended @nordrare.bsky.social's Rare Disease Scientific Symposium to explore new clinical trial designs, the translation of patient data into insights, & the role of real-world data in shaping education Thank you to NORD, our partner since 2019, for hosting this event! 🔗 bit.ly/4kwnrhy

Putting a name to your kid's #RareDisease can be a victory itself. Sometimes, that name doesn't exist. We're thrilled for the families who helped discover #ReNUSyndrome with experts at @childrensnational.bsky.social, a #NORD Rare Disease Center of Excellence! www.washingtonpost.com/dc-md-va/202...

My dispatches from @nordrare.bsky.social's Rare Scientific Symposium: FDA CBER Director Prasad on his approach to his new role including what seems to be his stump speech re regulatory flexibility. insights.citeline.com/pink-sheet/r...

Starting Day 2 of the @nordrare.bsky.social Rare Disease Scientific Symposium hearing from Dr. Vinay Prasad, the new director of the Center for Biologics Evaluation and Research. This inaugural conference is occurring at a critical juncture for rare disease innovation and access to treatment.

A round of applause for PARDAC member, Dr. Jerry Vockley! He was just recognized by NORD as a Medical & Scientific Trailblazers His leadership in rare disease research and care is transforming lives across PA and beyond.

Final days to register! Join the #NORD Rare Disease Scientific Symposium, June 2-3 in D.C. or virtually. Connect with regulatory and clinical leaders, and strengthen the #RareDisease research ecosystem. Register now for in-person or virtual: bit.ly/4hV0X7A Learn more at NORDscience.org

Meet the 2025 NORD #RareImpactAward Honorees! 🚨 From trailblazing researchers to unstoppable advocates and game-changing treatments — these leaders are transforming the future of #RareDisease care. 💜 Read the full list and stories about each Honoree: rareimpact.org

May is #MentalHealthAwarenessMonth 💚 Revisit "Keepin’ It Rare: Let’s Talk Therapy with Dr. Al Freedman," a 5-part video series from Bionews and NORD exploring the #MentalHealth impact of living with a #RareDisease. Watch here: bionews.com/keepin-it-ra...

Patients & doctors need access to #RareDisease diagnostic and treatment info, for which expertise can be scarce. The #NORD Rare Disease Report library is expert-reviewed and available to all, bringing critical info out of silos and from behind paywalls and making it digestible in English & Spanish.

Baby KJ with #CPS1 deficiency was successfully treated using custom #GeneEditing therapy at @childrensphila.bsky.social, a NORD Center of Excellence. Dr. Kiran Musunuru, developer of the #CRISPR #GeneTherapy, will speak at NORD’s Rare Disease Symposium! nordscience.org Read the story: n.pr/3YTUmUx

Tomorrow, #Congress is set to vote on legislation that would strip #Medicaid coverage away from millions of #RareDisease patients. We need your help TODAY! Tell your Members of Congress to vote NO on cutting Medicaid coverage for people living with #RareDiseases: rarediseases.org/driving-poli...