Mashup Score:12
CheckRareWhy It Is Difficult to Quickly Diagnose Congenital Disorders of Glycosylation - 1 week
Mashup Score:12
Mashup Score:12
CheckRareWhy It Is Difficult to Quickly Diagnose Congenital Disorders of Glycosylation - 1 week
Mashup Score:12
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...
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...
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
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...
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...
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...
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...
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
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...
"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...
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...
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