Today is #RareDiseaseDay. Listen to all six episodes of UMass Chan Medical School’s Rare Diseases, Real Stories podcast to hear from families affected by rare diseases: direc.to/mNKG #RareDiseasesRealStories #RareDiseases #podcast Rare Disease Day Riaan Research Initiative Raiden Science Foundation University of Massachusetts

A powerful photo: Terminal Tower in #Cleveland lit up in #RareDiseaseDay colors in commemoration of the 1 in 10 Ohioans, 30 million Americans, and 300 million people globally living with a #RareDisease today. #LightUpForRare Fun Fact: Did you know #TerminalTower used to be the

"Faith lit up the room. Her smile, her presence. If anything bad was going on, Faith's laugh would take all of that away." Please read our special tribute to a beautiful little girl who lost her life too soon. riaanresearch.substack.com/p/the-magic-of…

“Rare moms should run the world," says #RareMom Gillian, mother to 7-year-old Penelope who has a #RareDisorder. We don't disagree! This #MothersDay, let's honor #RareMoms like Gillian who lead with strength, love, and relentless advocacy for their kids. By building networks of

Happy Mother's Day! Today we are honored to share insight from 10 warrior moms raising children with Cockayne syndrome. They offer advice and open their hearts. Check it out here: riaanresearch.substack.com/p/a-love-that-…

Calling all RARE Caregivers! Are you a parent or caregiver for someone living with a #RareDisease or condition? We need your stories! Email [email protected] for more information.

Tomorrow, #Congress is set to vote on legislation that would strip #Medicaid coverage and funding away from millions of rare disease patients. We need your help to tell Members of Congress to vote NO on cutting Medicaid coverage for those living with a #RareDisease and their

On Mother’s Day, we shared “A Love That Knows No Limits”—a post featuring 10 moms of children with Cockayne syndrome. Lena, who lost her only child Kian, speaks to the depth of grief, love, and longing in a way we all can understand. 🔗 riaanresearch.substack.com/p/a-love-that-… #CockayneSyndrome

This is a game changer: AAV gene therapy for Cockayne syndrome 👇 biorxiv.org/content/10.110…

Look at that 👇

New preprint describing AAV9 gene therapy that extends lifespan in severe Cockayne syndrome mouse models from 22 to 189 days—surpassing many CNS gene therapies. Proudly supported and funded by Riaan Research Initiative, this is a huge leap for the CS community! biorxiv.org/content/10.110…

This #FathersDay, honor the dedication and determination of every #RareDadOnAMission. From seeking the best possible care for their loved ones and raising their voices to advocate on behalf of the broader #RareDisease community, they move mountains every day. Your gift to NORD

Happy Father's Day! This Father’s Day, we asked dads Rick, Bryon, Nate, and Richie questions about love, loss, strength, and what their children, who have been diagnosed with CS, have taught them. 📖 Read the intriguing Q+A: riaanresearch.substack.com/p/they-carry-t…

A huge congratulations to Professor Martijn Luijsterburg, a member of our SAB, on this well deserved promotion.

Before Riaan Research Initiative, there was Mark and Sarah Pelson, a dramatic father-daughter who revolutionized research into Cockayne syndrome. Read all about them! riaanresearch.substack.com/p/the-father-d…

Dive into the step-by-step choreography of transcription-coupled DNA repair. In our new review published in Nature Cell Biology, we explore what we know and what’s next in this exciting field of research! nature.com/articles/s4155…

From a true scholar worth a read

“We could lose a generation of scientists in a very short time.” - UMass Chan Medical School Chancellor Michael F. Collins to NYT Magazine about the slowdown in NIH funding: direc.to/nsXD Pediatric cancer researcher Rachael Sirianni, PhD, whose research has stalled, is also featured.

Today marks the start of National #HispanicHeritageMonth! Join us as #NORD Rare Action Network State Ambassador for #Florida, Jhoanny, shares a special message in English and Spanish to celebrate the rich contributions of #Hispanic Americans in the #RareDisease community.