Rare Disease Advisor
banner
rarediseaseadvisor.bsky.social
Rare Disease Advisor
@rarediseaseadvisor.bsky.social
Trusted knowledge base of practical information and resources focused on treating and diagnosing #RareDisease.

https://www.rarediseaseadvisor.com/
📚 Advocacy extends to education...

Miranda Gabrielli, #ALGS contributor, opens up about the emotional weight of reviewing her son Jackson’s IEP progress each year—and the constant need to show up as his strongest advocate.

Read here ➡️: https://bit.ly/48PEiZ6

#RareDisease #AlagilleSyndrome
December 5, 2025 at 9:14 PM
The convergence of spatial and single-cell data underscores that #PPF is not merely an accelerated version of stable #ILD but a biologically distinct state defined by specific profibrotic cell lineages and their interactions. @europeanrespsoc.bsky.social

Learn more: https://bit.ly/4rBR7hc
Early Cellular Signatures Differentiate Patients Likely to Develop PPF
Early-stage ILD biopsies showed distinct cellular compositions that reliably distinguished PPF from stable ILD, a study found.
bit.ly
December 5, 2025 at 8:08 PM
The inosine-5′-monophosphate dehydrogenase-2 (#IMPDH2) enzyme is highly expressed in peripheral blood mononuclear cells and CD4-positive T cells from patients with #MyastheniaGravis (MG). Study in Clinical Immunology.

Read more: https://bit.ly/44BygsA

#RareDisease #MedSky
Study Sheds Light on Pathogenesis of Myasthenia Gravis
A team of researchers worked to shed light on the mechanism of CD4-positive T-cell regulation by IMPDH2 in MG.
bit.ly
December 5, 2025 at 6:53 PM
A pediatric patient presented with atypical neurofibromatosis type 1 (#NF1) with #OcularSymptoms, highlighting that coordinated, multidisciplinary teams are needed to care for children with this disorder. Published in @cureusmedical.bsky.social

Learn more: https://bit.ly/48N2k71

#MedSky
Case Report: Atypical Pediatric NF1 Presentation With Optic Nerve Gliomas, Glaucoma
A patient presented with proptosis of the left eye and eventually developed elevated intraocular pressure in the eye, for which goniotomy was performed.
bit.ly
December 5, 2025 at 5:42 PM
#ASH25: Interferon exposure independently reduced mortality risk in early primary #Myelofibrosis (MF) in multivariable modeling, according to a study that will be presented at the 67th @ash.hematology.org Annual Meeting and Exposition.

Read more: https://bit.ly/3Mi7Aa0

#MedSky #Hematology
Interferon Therapy Improves Survival in Early Myelofibrosis
Interferon therapy was associated with markedly prolonged overall survival in early primary MF despite similar progression rates.
www.rarediseaseadvisor.com
December 5, 2025 at 3:49 PM
As we move into the next chapter of Rare Advocacy Spotlight, we honor the life and impact of Donovan Decker—LGMD advocate and 2025 @mda.org Legacy Award recipient.

We’re grateful to have interviewed Donovan before his passing. His voice and advocacy continue to inspire.
December 4, 2025 at 9:40 PM
A newly developed nomogram delivers highly reliable risk prediction for #ALFD after #TACE in #HepatocellularCarcinoma (HCC), allowing clinicians to stratify patients and tailor management with greater precision.

Read more: https://bit.ly/4pJUalC

#RareDisease #Oncology
Nomogram Predicts Post-TACE Liver Injury With Strong Accuracy
A nomogram integrating Child-Pugh class, APRI, and FIB-4 offers precise and reliable prediction of ALFD risk after TACE in patients with HCC.
bit.ly
December 4, 2025 at 8:54 PM
Chinese researchers have identified overlapping but distinct clinicopathologic features of immunoglobulin 4-related ophthalmic disease (#IgG4ROD), a form of IgG4-related disease (#IgG4RD), and #CastlemanDisease (CD). Report in the Indian Journal of Ophthalmology

Read more: https://bit.ly/48NGDDX
Differences Observed in Clinical Features of IgG4-ROD and Castleman Disease
Both IgG4-ROD and Castleman disease may present as orbital masses or lacrimal gland enlargement, but they differ in imaging and histologic markers.
bit.ly
December 4, 2025 at 5:50 PM
Researchers reported the statistically significant superiority of #Bezuclastinib to placebo in patients with nonadvanced #SystemicMastocytosis (#NonAdvSM). Results will be presented at the 67th @ash.hematology.org Annual Meeting and Exposition

Read more: https://bit.ly/4pMy4Pt

#RareDisease #MedSky
Bezuclastinib Shows Safety, Symptom Improvement vs Placebo in NonAdvSM
Bezuclastinib produced clinically meaningful improvements in SM symptom control and disease biomarkers compared with placebo, according to new research.
bit.ly
December 4, 2025 at 5:11 PM
🎉 #TLM25 Recap

From Nov 7–11, leaders in #Hepatology met in D.C. for @aasldnews.bsky.social's annual The Liver Meeting, sharing key research, patient insights, and innovations in care.

Catch Rare Disease Advisor’s top highlights ➡️ https://bit.ly/4axf17f

#RareDisease #LiverDisease #MedSky
AASLD’s The Liver Meeting 2025: Highlights from #TLM25
Discover key insights, research updates, and highlights from AASLD’s The Liver Meeting 2025 (#TLM25) in Washington, D.C.
bit.ly
December 4, 2025 at 4:10 PM
The efficacy of #Seladelpar as a second-line therapy in patients with primary biliary cholangitis (#PBC) has been demonstrated in a real-world clinical setting.

Read more: https://bit.ly/4pRad1g

#RareDisease #PrimaryBiliaryCholangitis
Seladelpar’s Efficacy for PBC Demonstrated in a Real-World Clinical Setting
The efficacy of seladelpar as a second-line therapy in patients with PBC has been demonstrated in a real-world clinical setting.
bit.ly
December 3, 2025 at 9:05 PM
Skeletal fragility is common in individuals with active or uncontrolled #Acromegaly, and therapy choice may be altered to decrease risk.

Learn more: https://bit.ly/4rBMG60

#RareDisease #GrowthHormone #InsulinLikeGrowthFactor1 #MedSky
Effects of Acromegaly and Its Therapies on Bone Metabolism and Fracture Risk
Skeletal fragility is common in individuals with active or uncontrolled acromegaly, and therapy choice may be altered to decrease risk.
bit.ly
December 3, 2025 at 8:09 PM
🎡 Another round on the ferris wheel of medication…

#HAE contributor Donna Maxwell opens up about her 23-year journey of trying treatment after treatment in hopes of finding relief.

👉 Read Donna's full story: https://bit.ly/3Y2zmdg

#RareDisease #HereditaryAngioedema #RareVoices
December 3, 2025 at 7:20 PM
Increased mechanical dispersion is associated with advanced stages of transthyretin-mediated amyloid cardiomyopathy (#ATTRCM) and mortality, according to a new study published in Scientific Reports.

Read here: https://bit.ly/3MdhvxH

#RareDisease #MedSky
Study Identifies Potential New Marker of ATTR-CM
Increased mechanical dispersion may serve as a marker of transthyretin-mediated amyloid cardiomyopathy (ATTR-CM).
bit.ly
December 3, 2025 at 5:50 PM
Fetal and neonatal alloimmune thrombocytopenia (#FNAIT) is a potentially life-threatening condition with a distinct subset of antihuman platelet antigen 1a antibodies that can directly activate platelets through #FcγRIIa. @ash.hematology.org

Read more: https://bit.ly/3Y3qgwK

#RareDisease #ASH25
Platelet-Activating Anti-HPA-1a Antibodies Drive Pathogenic Mechanisms in FNAIT
According to recent research, a subset of anti-HPA-1a antibodies directly activated human platelets via FcγRIIa, suggesting added pathogenicity in FNAIT.
bit.ly
December 3, 2025 at 4:48 PM
A single dose of #LonvoZ, @intelliatx.bsky.social #CRISPR therapy for #HAE, produced deep, long-lasting suppression of #Kallikrein and kept nearly all patients attack-free and off prophylaxis for months to years, with a strong safety profile.

Read here: https://bit.ly/48vZ5zN

#RareDisease #MedSky
Single-Dose CRISPR Therapy Shows Durable HAE Control
A single dose of lonvo-z kept nearly all patients with HAE attack-free and off prophylaxis for months to years.
bit.ly
December 2, 2025 at 6:33 PM
Standard prophylaxis regimens may not adequately protect patients with #Hemophilia A, particularly those with joint damage, according to a recent report in Expert Reviews of Hematology.

Read more: https://bit.ly/4rt51SN

#RareDisease #JointDamage #Hematology
Standard Prophylaxis May Not Be Sufficient for All Patients With Hemophilia A
An expert panel recommended FVIII levels ranging from 24% to 51%, well above recommended prophylactic levels of 3% to 5% for hemophilia A.
bit.ly
December 2, 2025 at 5:22 PM
Half of malignant peripheral nerve sheath tumors in humans arise from #Neurofibroma progression, and current therapeutic options remain ineffective.

Read more: https://bit.ly/3MB6u9m

#NF1 #RareDisease #NeurofibromatosisType1
Study Identifies Glial-to-Mesenchymal Shift Driving NF1 Tumor Malignancy
New research suggests that glial-to-mesenchymal reprogramming and Sox9 upregulation appear central to NF1-related malignant transformation.
bit.ly
December 2, 2025 at 4:37 PM
#Ruxolitinib provides long-term benefit for patients with #Myelofibrosis (MF) in real-world practice, with treatment durations comparable to #ClinicalTrials and reduced transfusion needs even among anemic patients. #ASH25 @ash.hematology.org

Read here: https://bit.ly/3M9eYoc

#RareDisease #MedSky
Real-World Ruxolitinib in MF Provides Durable Benefit Comparable to Clinical Trials
Ruxolitinib offers long-term benefit in MF, with trial-comparable treatment durations and lower transfusion needs, even in anemic patients.
bit.ly
December 1, 2025 at 9:45 PM
Dietary nitrate (NO3−) supplementation, in the form of #BeetrootJuice, may benefit patients with hypoxic idiopathic pulmonary fibrosis (#IPF), according to results presented at the @btsrespiratory.bsky.social Winter Meeting 2025, held in London, UK

Read more: https://bit.ly/48xDyqo

#MedSky
Beetroot Juice Supplementation May Benefit Patients With Hypoxic IPF
The study in patients with IPF showed improved walking times and vascular function with nitrate-rich beetroot juice compared with placebo.
bit.ly
December 1, 2025 at 8:34 PM
Treatment with #Efgartigimod prior to #Thymectomy may provide greater improvements in functional scores and antibody titers in patients with #MyastheniaGravis (MG). Study in Acta Neurologica Scandinavica.

Read more: https://bit.ly/4ovIlOW

#RareDisease #Neurology
Preoperative Efgartigimod May Help Stabilize Patients With MG After Thymectomy
Preoperative treatment with efgartigimod may help stabilize patients with myasthenia gravis and improve outcomes after thymectomy.
bit.ly
December 1, 2025 at 6:57 PM
🟥 World AIDS Day

Today we honor those affected by #HIV and raise awareness of conditions linked to it — including #PCNSL, a #RareCancer historically seen more often in advanced HIV.

#WorldAIDSDay #HIVAwareness #RareDisease #HealthEquity #EndTheStigma #MedSky
December 1, 2025 at 5:48 PM
Patients with rare diseases such as #HereditaryAngioedema (HAE) encounter ongoing issues when presenting to the emergency department, including multiple healthcare professionals having limited knowledge on how to diagnose and treat their disorder

Read more: https://bit.ly/48tko52

#RareDisease #HAE
Limited Knowledge Exists on Rare Disease Presentation in the Emergency Department
Patients with rare diseases such as HAE encounter issues when presenting to the ED, such as healthcare professionals having limited rare disease education.
bit.ly
December 1, 2025 at 4:22 PM
A complicated relationship with "care"... 💙

Jaimie Sheil, CIDP Contributor, shares how living with a rare disease changed her understanding of the word.

✨ Read Jaimie’s full story: https://bit.ly/4pwCpGb

#RareDisease #CIDP #RareVoices
November 28, 2025 at 9:14 PM
Higher in-hospital mortality, longer stays, and higher #HealthcareCosts were observed among patients with #Hemophilia undergoing coronary artery bypass grafting (#CABG). Results in @ahajournals.bsky.social

Read here: https://bit.ly/4pcviTy

#RareDisease #MedSky #Cardiology
Hemophilia Linked to Increased In-Hospital Mortality, Resource Use After CABG
An analysis of patient outcomes after coronary artery bypass grafting showed mortality was 10.6% among those with hemophilia compared with 2.5% in controls.
bit.ly
November 28, 2025 at 8:08 PM