Rare Disease Advisor
Trusted knowledge base of practical information and resources focused on treating and diagnosing #RareDisease.
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- Primary mitochondrial diseases (#PMDs), including thymidine kinase 2 deficiency (#TK2d), may be driven not only by bioenergetic failure but also by activation of innate immunity triggered by mitochondrial DNA release (#mtDNA). Read here: bit.ly/4qlWwao #RareDisease #MedSky
- In young patients with sickle cell disease (#SCD) with no known #Nephropathy, the #CKiDU25 equation based on cystatin C provides glomerular filtration rate estimates close to the gold standard isotopic measurement. Read more: bit.ly/4aiOEAn #RareDisease #MedSky #Nephrology
- The @fda.gov has issued a complete response letter for #Anaphylm™ (debutepinephrine) for treatment of type 1 allergic reactions, including anaphylaxis, a development of particular interest for patients with #SystemicMastocytosis Learn more: bit.ly/4r2AH0s #RareDisease #MedSky
- A new study by researchers in India has identified 5 novel hub genes associated with extracellular matrix remodeling and fibrosis in idiopathic pulmonary fibrosis (#IPF). Read more: bit.ly/4tkWWjR #RareDiease #IdiopathicPulmonaryFibrosis #MedSky
- Transfusion of e-antigen-positive packed red blood cells (#pRBCs) can precipitate clinically meaningful hemolysis in patients with warm autoimmune hemolytic anemia (#AIHA) mediated by anti-e autoantibodies. Read more: bit.ly/3MmVpJv #RareDisease #MedSky
- Cumberland Pharmaceuticals announced that the @fda.gov has granted #FastTrack Designation to #Ifetroban (#Dyscorban®), the company’s novel oral therapy for #Cardiomyopathy in patients with #DuchenneMuscularDystrophy (DMD). Read more: bit.ly/4rTzo4j #RareDisease #DMD #MedSky
- As #FriedreichAtaxia (FA) progresses, patients experience growing communication challenges and impediments to daily living, as well as a significant economic burden. Study in @lancetrh-europe.bsky.social Read more: bit.ly/4rEULGp #RareDisease #MedSky
- #Gandouling may inhibit #LiverFibrosis in #WilsonDisease by severing the cellular communication between hepatic stellate cells and sinusoidal endothelial cells and preventing sinusoid capillarization. Study in Pharmaceuticals. Read more: bit.ly/4r3UyN0 #RareDisease #MedSky
- 🧬 What do you know about Cholangiocarcinoma (#CCA)? 🗝️ Take a look at some key insights now. Learn more at our Resource Page: bit.ly/4nUO3tH ------------------- #WorldCancerDay #RareCancer #RareDisease
- Nutritional status appears to accurately predict survival in patients with #Myelofibrosis (MF). Study in Frontiers in Nutrition. Read more: bit.ly/4bYXNAt #WorldCancerDay #Oncology #RareDisease
- 💡 Discover 3 Facts About Primary Central Nervous System Lymphoma (#PCNSL) Learn more at our Resource Page: bit.ly/4pR6elO #WorldCancerDay #RareCancer #RareDisease
- 🧬 What do you know about Medullary Thyroid Carcinoma (#MTC)? 🗝️ Take a look at some key insights now. Learn more at our Resource Page: bit.ly/4nYJP4k ------------------- #WorldCancerDay #RareCancer #RareDisease
- Treatment with ursodeoxycholic acid (#UDCA) is associated with a significantly lower risk of developing gastrointestinal, liver, and breast #Cancer in patients with primary biliary cholangitis (#PBC). @jamanetworkopen.com Read more: bit.ly/4kbJMSk #WorldCancerDay #RareDisease #Oncology
- 💡 Discover 3 Facts About Systemic Mastocytosis (#SM) Learn more at our Resource Page: bit.ly/3IQKm9C #WorldCancerDay #RareCancer #RareDisease
- 🧬 What do you know about Hepatocellular Carcinoma (#HCC)? 🗝️ Take a look at some key insights now. Learn more at our Resource Page: bit.ly/42kqKkQ ------------------- #WorldCancerDay #RareCancer #RareDisease
- Targeted therapies can have a dramatic effect on overall survival in patients with #Cholangiocarcinoma (CCA), according to a new study by Italian researchers published in @jhepatology.bsky.social Read more: bit.ly/4rkjBuX #WorldCancerDay #Oncology #RareDisease
- 💡 Discover 3 Facts About Diffuse Large B-Cell Lymphoma (#DLBCL) Learn more at our Resource Page: bit.ly/46v3Mdk #WorldCancerDay #RareCancer #RareDisease
- 🧬 What do you know about Acute Lymphoblastic Leukemia (#ALL)? 🗝️ Take a look at some key insights now. Learn more at our Resource Page: bit.ly/48L0cgz ------------------- #WorldCancerDay #RareCancer #RareDisease
- #Radiotherapy appears to be a feasible and effective local option for older patients with liver-confined #HepatocellularCarcinoma (HCC) and multiple comorbidities, delivering acceptable survival with low toxicity. Read more: bit.ly/4rERFCj #WorldCancerDay #RareDisease #Oncology
- 💡 Discover 3 Facts About #Myelofibrosis Learn more at our Resource Page: bit.ly/48akK1V #WorldCancerDay #RareCancer #RareDisease
- 🧬 What do you know about Chronic Lymphocytic Leukemia (#CLL)? 🗝️ Take a look at some key insights now. Learn more at our Resource Page: bit.ly/48cvwVq ------------------- #WorldCancerDay #RareCancer #RareDisease
- Patients with severe idiopathic pulmonary fibrosis (#IPF) and #LungCancer showed higher rates of acute exacerbation during surgery as well as poorer overall survival. Study in @annsurgoncology.bsky.social Read more: bit.ly/4k5nnFS #WorldCancerDay #RareDisease #Oncology
- 💡 Discover 3 Facts About Myelodysplastic Syndromes (#MDS) Learn more at our Resource Page: bit.ly/46zDdDK #WorldCancerDay #RareCancer #RareDisease
- 📊 The State of Cancer in 2026 Progress is real: ✅ 4.8M lives saved Challenges remain: 📌 2.11M new U.S. cases expected 🔬 Read the full insight: bit.ly/45O6J7X #WorldCancerDay #Oncology #RareDisease #CancerResearch
- On World Cancer Day, we’re shining a light on what often goes unseen: rare cancers. Behind the statistics are patients searching for answers, treatments, and hope. 🎬 Take a minute to watch and help spread awareness. #WorldCancerDay #RareDisease #RareCancer #RareDiseaseMonth
- 🌍 Today is World Cancer Day The 2025–2027 theme “United by Unique” highlights people-centered care and the unique journey of every cancer patient. @uiccofficial.bsky.social Read our collection of articles on #RareCancers: bit.ly/4qg1tkK #WorldCancerDay #RareCancer #MedSky
- Skyhawk Therapeutics announced positive 9-month interim findings from its phase 1 clinical trial of SKY-0515 for the treatment of #HuntingtonDisease (HD). Read more: bit.ly/4tbDFl3 #RareDisease #SKY0515 #SkyhawkTherapeutics
- A young adult female patient was diagnosed with #AcuteTubularNecrosis with underlying paroxysmal nocturnal hemoglobinuria (#PNH), highlighting how renal involvement may be an initial manifestation of PNH. Read more: bit.ly/3NQIUq5 #RareDisease #MedSky
- Recent research published in @clinicalneuroph.bsky.social identified particular resting-state electroencephalographic (rsEEG) rhythms that may distinguish #HuntingtonDisease (HD) from #AlzheimerDisease (AD). Read more: bit.ly/4ry7tqo #RareDisease #MedSky
- 👩⚕️🔬⚕️ Today we celebrate National Women Physicians Day! Honoring the women advancing medical research, diagnosis, and care, and driving progress in the rare disease community. Thank you for all you do! 💙 #WomenInMedicine #RareDisease #MedicalResearch #HealthcareLeaders
- #Imetelstat Improves Fatigue and QoL in Transfusion-Dependent Lower-Risk #MDS Benefits in fatigue and #QOL were observed across baseline risk features, including ring sideroblast status. Study in Haematologica Read more: bit.ly/4a6lTGT #RareDisease #MedSky
- 🕯️🕊️In Memoriam of Derek Osenenko Our team is heartbroken to share the news of our friend and colleague Derek’s sudden passing. Sharing the official obituary for anyone who would like more information about services and ways to honor Derek's memory: bit.ly/3NUHRW3
- 🦓 February is Rare Disease Awareness Month. All month, we’ll share #RareDisease insights tied to February awareness days, spotlight a new #RareAdvocacySpotlight organization, and count down to #RareDiseaseDay on February 28. www.rarediseaseadvisor.com #RareDiseases #MedSky
- Arthropathy of the cricoarytenoid joint (#CAJ), leading to significant glottic obstruction, can be the initial presenting sign of #Acromegaly. Study in Laryngoscope Read more: bit.ly/49OW1kc #RareDisease #GlotticObstruction #MedSky
- Patients with #PrimaryBiliaryCholangitis (#PBC) and decompensated cirrhosis may be able to regress to a recompensated stage. Study in the Journal of Gastroenterology. Read more: bit.ly/3LF4UUd #RareDisease #MedSky #Gastroenterology
- An elderly patient with antineutrophil cytoplasmic antibody (#ANCA)-associated vasculitis (#AAV) had repeated #KidneyBiopsies showing new-onset IgA nephropathy. Study in CEN Case Reports. Read more: bit.ly/4btyZQW #RareDisease #ANCAAssociatedVasculitis #MedSky
- A 6-week course of Descartes-08 produced rapid, sustained clinical improvements in patients with generalized #MyastheniaGravis (MG), according to trial results published in @natmed.nature.com. Read more: bit.ly/4taEdrg #RareDisease #Descartes08 #MG #MedSky
- #Epcoritamab improved progression-free survival (#PFS) compared with investigator’s choice chemoimmunotherapy in adults with relapsed or refractory (R/R) #DLBCL, although overall survival was not significantly different. Read more: bit.ly/4qclfxv #MedSky #RareDisease
- Intrauterine transfusion (#IUT) is a key intervention in hemolytic disease of the fetus and newborn (#HDFN), but clinicians must be vigilant about the risk of maternal sensitization and alloantibody development. Read here: bit.ly/4blo3Vv #RareDisease #MedSky
- Different fibrotic interstitial lung diseases (#ILDs) share demographic and functional similarities, like pulmonary function and health-related quality of life, despite having different causes. Study in BMJ Open Respiratory Research. Read more: bit.ly/4a4rTjs #RareDisease #MedSky
- Precision genomic profiling in patients with atypical #GaucherDisease (GD) revealed concurrent genetic variants. Read more: bit.ly/4k4H7cN #RareDisease #MedSky
- Treatment with #Pegcetacoplan has demonstrated significant improvements in hematologic parameters in both #ComplementInhibitor (CI)-experienced and CI-naive patients with #PNH in real-world clinical settings across Europe and Canada. Learn more: bit.ly/4a12G9s
- Because patients with #SystemicSclerosis (#SSc) are at risk of new-onset #InterstitialLungDisease (#ILD), screening should be regularly conducted. Study in @ard.eular.org Read more: bit.ly/3Z7fzK #RareDisease #MedSky
- Surgeons can predict both prognosis and histopathological subtype of pure somatotroph adenomas of #Acromegaly by observing intraoperative tumor consistency, enabling patient-specific surgical strategies that improve remission. Read more: bit.ly/3LZCynE #RareDisease #MedSky
- #Mesothelin, a tumor differentiation antigen that is highly expressed in #Cholangiocarcinoma (#CCA), is a promising target for chimeric antigen receptor (CAR) T cell therapy against the disease. Study in Hepatology Communications. Read more: bit.ly/4t0NK49
- @sarepta.com announced positive 3-year functional outcomes from the #EMBARK study evaluating delandistrogene moxeparvovec-rokl in ambulatory patients with Duchenne muscular dystrophy (#DMD). Learn more: bit.ly/4qLboQH #RareDisease #DuchenneMuscularDystrophy #MedSky
- Mind-body and aerobic exercise can be useful in countering #PerinatalDepression and anxiety. #FNAIT is known to be a significant risk factor for poor maternal psychological outcomes. Read more: bit.ly/3Ma4EfU #RareDisease #MedSky
- Pharmacogenomic (#PGx) testing was perceived as valuable by caregivers of individuals with Prader-Willi syndrome (#PWS), primarily for informing future medication decisions. Study in Pharmacogenomics. Read more: bit.ly/4bm3tnT #RareDisease #PraderWilliSyndrome #MedSky
- Neurofibromatosis type 1 (#NF1) is associated with a high disease burden, but significant gaps in the literature regarding key areas of care remain. Study in Neuro-Oncology Advances @neuroonc.bsky.social Read more: bit.ly/4qH9oJ5 #RareDisease #NeurofibromatosisType1 #MedSky
