Mashup Score:12
CheckRareWhy It Is Difficult to Quickly Diagnose Congenital Disorders of Glycosylation - 1 week
Mashup Score:12
# RareDisease
Mashup Score:10
CheckRareFrontiers in Congenital Disorders of Glycosylation Consortium (FCRGC) - 5 days
Mashup Score:10
Dr. Morava-Kozicz of the Mayo Clinic explain how the RDCRN Consortium, FCDGC, has improves our understanding of congenital disorders of...
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Eva Morava-Kozicz, MD, PhD of the Mayo Clinic in Rochester, MN profiles an overview of congenital disorders of glycosylation (CDG). https://t.co/CixIMenoUj @EvaMorava @MayoClinic @NIH @rarediseasesnet @FrontierCDG @worldCDG @UK_CDG #raredisease #MayoClinicRochesterMinnesota - view on twitter
Mashup Score:9
GEN - Genetic Engineering and Biotech...The Future of Rare Disease Care Depends on Thinking Globally - 1 week
Mashup Score:9
The need for global collaboration is dire for efficient and expedient clinical trials that lead to accessible rare disease treatments. At present, over 90...
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The Future of Rare Disease Care Depends on Thinking Globally The need for global collaboration is dire for efficient and expedient clinical trials that lead to accessible #raredisease treatments. Read more: https://t.co/TZ5Xdpsqqv https://t.co/TZ5Xdpsqqv - view on twitter
More coverage:
#raredisease
Mashup Score:8
CheckRarePKU Treatment: Medical Foods vs Kuvan vs Palynziq - 2 days
Mashup Score:8
Dr. Jerry Vockley, of UPMC Children’s Hospital of Pittsburgh, discusses the limitations of the current treatment options for phenylketonuria...
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Gerald Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, discusses new data testing a probiotic to treat individuals with phenylketonuria. #PKU #raredisease @ChildrensPgh @howmuchphe @official_espku https://t.co/7u3PzI0Rby - view on twitter
Mashup Score:8
Living Rare Living StrongerLiving Rare Living Stronger – Rare Disease Patient Event - 6 days
Mashup Score:8
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
Mashup Score:7
Journal of Medical GeneticsCatalogue of inherited disorders found among the Irish Traveller population - 4 days
Mashup Score:7
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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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
Mashup Score:5
National Organization for Rare DisordersThe 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
More coverage:
#raredisease
Mashup Score:3
New York TimesMary Kaye Richter, Florist Turned Medical Crusader, Dies at 77 - 4 days
Mashup Score:3
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
Mashup Score:3
HCP LiveFDA Approves Lanadelumab for Rare Hereditary Angioedema - 3 days
Mashup Score:3
Lanadelumab (Takhzyro) has been approved for the treatment of hereditary angioedema in patients 12 and...
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Exciting news for the #HAE community: Lanadelumab (TAKHZYRO) is now approved by the FDA for the prevention of hereditary angioedema attacks in pediatric patients aged 2 to <12 years old. #RareDisease https://t.co/qMovvzJy1G - view on twitter
Mashup Score:3
HCP LiveCilta-cel Improves Progression-Free Survival as Multiple Myeloma Therapy in Phase 3 Data - 1 week
Mashup Score:3
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
Dr. Morava-Kozicz of the Mayo Clinic profiles an overview of congenital disorders of glycosylation...
Eva Morava-Kozicz, MD, PhD of the Mayo Clinic in Rochester, MN, discusses why it is difficult to quickly diagnose Congenital Disorders of Glycosylation. #CDG https://t.co/12tp8c6REI @NIH @MayoClinic @rarediseasesnet @FrontierCDG @worldCDG @UK_CDG #raredisease - view on twitter