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Dr. Morava-Kozicz of the Mayo Clinic profiles an overview of congenital disorders of glycosylation...

Dr. Morava-Kozicz of the Mayo Clinic explain how the RDCRN Consortium,  FCDGC, has improves our understanding of congenital disorders of...

The need for global collaboration is dire for efficient and expedient clinical trials that lead to accessible rare disease treatments. At present, over 90...

Dr. Jerry Vockley, of UPMC Children’s Hospital of Pittsburgh, discusses the limitations of the current treatment options for phenylketonuria...

The Living Rare, Living Stronger NORD Patient and Family Forum will be a truly patient first event. Through it all, we will maintain our...

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    Register for NORD's #LivingRareForum on Sat., May 6, in Washington, DC! This is a day of learning, networking and fun, and to share stories and build relationships with others in the #RareDisease community. Free registration for patients & caregivers! https://t.co/9gS7bfYNI5 https://t.co/9gS7bfYNI5 - view on twitter

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the...

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    JMG

    Speaker at UK NeuroGenetics# 🧠 meeting highlighting ongoing utility of this paper "Catalogue of inherited disorders found among the Irish Traveller population" by @annnlynch ➡️ https://t.co/F79r8J6UkC (Supp Table 1 for catalogue) #Genomics #RareDisease - view on twitter

The National Organization for Rare Disorders (NORD) has added new animated videos in English and Spanish on Genetic Testing for Rare and Undiagnosed...

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    We've added new animated videos in English and Spanish on Genetic Testing for Rare and Undiagnosed Diseases to the NORD #RareDisease Video Library! Learn more and access the videos here: https://t.co/CT5QynezR5 - view on twitter

From her kitchen table in rural Illinois, Ms. Richter started a global foundation for families who shared her son’s rare genetic...

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    "But instead of bowing to fate, Ms. Richter decided to create her own support network." Read about a #raredisease mom who "wanted every kid to have a chance at a good life." She sought & created #PeerHealthAdvice and knit together a farflung community. https://t.co/VhsLmhFTvj - view on twitter

Lanadelumab (Takhzyro) has been approved for the treatment of hereditary angioedema in patients 12 and...

The study population consists of patients who received 1-3 prior lines of therapy for relapsed and lenalidomide-refractory multiple...

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    ICYMI: Phase 3 data evaluating cilta-cel (Carvykti) showed the primary endpoint of progression-free survival in patients with relapsed and lenalidomide-refractory multiple myeloma was achieved. #OncTwitter #RareDisease https://t.co/Rcv3LtpPOs - view on twitter