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/
Children with Duchenne muscular dystrophy (#DMD) participate less in daily life than do their typically developing peers, largely as a result of their physical environment. Study in Pediatric Neurology.

Read more: https://bit.ly/45Xmt8C

#RareDisease #DuchenneMuscularDystrophy
Environmental Barriers Reduce Participation in Daily Life in Children With DMD
Children with DMD participate less in daily life than their peers, largely due to a lack of adaptive modifications at home or at school.
bit.ly
January 18, 2026 at 6:45 PM
The distinct triggers and disease courses of generalized pustular psoriasis (#GPP) and acute generalized exanthematous pustulosis (#AGEP) render accurate diagnosis key to appropriate treatment.

Learn more: https://bit.ly/3NLOU36

#RareDisease #MedSky #Dermatology
Clinical Distinctions Seen Between GPP and Acute Generalized Exanthematous Pustulosis
Predictive factors were seen that differentiated GPP from AGEP, including triggering events, psoriasis history, disease recurrence, and elevated ALP levels.
bit.ly
January 18, 2026 at 5:50 PM
Antineutrophil cytoplasmic antibody (#ANCA)-associated vasculitis (AAV) may occur alongside systemic sclerosis (#SSc), with standard vasculitis treatments associated with stable disease outcomes. Study in @acr-journals.bsky.social

Read here: https://bit.ly/4pF3rLm

#RareDisease #MedSky
SSc Overlapping With AAV Generally Responds to Vasculitis Treatment
Studies estimate the prevalence of ANCA in SSc to be between 0% and 12%, but the relationship between these 2 disorders remains poorly understood.
bit.ly
January 17, 2026 at 8:14 PM
Severe #Behçet-like intestinal disease associated with trisomy 8 #MDS can follow an aggressive, refractory course, but timely immune-targeted therapy may achieve both clinical and hematologic recovery even after repeated surgical complications.

Read here: https://bit.ly/3NMUjqD
Early Immunosuppression Reverses Severe Behçet-like Disease in Trisomy 8 MDS
This case highlights the importance of early recognition of autoimmune gastrointestinal involvement in MDS.
bit.ly
January 17, 2026 at 7:25 PM
🔙 Flashback to @aasldnews.bsky.social's The Liver Meeting

Andrea Wilson Woods, Founder of @bluefaeryliver.bsky.social, shares the powerful story behind Better Off Bald—her book honoring her sister Adrienne’s 147-day battle with #HepatocellularCarcinoma.

Read more here: https://bit.ly/4sDQSTn
January 16, 2026 at 10:00 PM
💙 Why Advocacy Matters in Liver Cancer & Rare Disease

@bluefaeryliver.bsky.social's founder Andrea Wilson Woods shares her thoughts.

Learn more 👉 https://bluefaery.org

#BlueFaery #RareDiseaseAdvocacySpotlight #LiverCancer #PatientVoices
January 16, 2026 at 9:07 PM
💓 Learn to Love Your Liver

@bluefaeryliver.bsky.social Love Your Liver program raises awareness and educates high-risk, underserved communities to support prevention and early detection of liver disease & cancer.

Learn more 👉 https://bit.ly/4qo8wJd

#RareAdvocacySpotlight #BlueFaery #LiverCancer
January 16, 2026 at 8:06 PM
ℹ️ The Truth About Liver Cancer (TTALC)

@bluefaeryliver.bsky.social 90-min workshop & YouTube series for patients & caregivers.

Learn more about the TTALC workshops: https://bit.ly/4qwbbRi

#RareAdvocacySpotlight #BlueFaery #LiverCancer #RareDisease
January 16, 2026 at 7:00 PM
🔬 Know a leader in liver cancer research?

Nominate them for the @bluefaeryliver.bsky.social Award.

⏰ Due January 31, 2026
Submit a nomination 👉 https://bit.ly/4pMt7pr

#RareAdvocacySpotlight #BlueFaery #LiverCancer #MedSky #RareDisease
January 16, 2026 at 6:15 PM
🫶 You are not alone.

@bluefaeryliver.bsky.social's liver cancer community welcomes all HCC patients and caregivers.

"Whether you're seeking advice or encouragement, or simply a listening ear, you'll find it here."

Join here 👉: https://bit.ly/4qoiRVD

#RareAdvocacySpotlight #BlueFaery #HCC
January 16, 2026 at 5:30 PM
🧚Blue Faery: Equipping Patients for the Fight Against Liver Cancer

#HepatocellularCarcinoma is the third leading cause of cancer death globally, and fatty liver disease is sending the incidence higher.

Read the full feature: https://bit.ly/4b40EYv

@bluefaeryliver.bsky.social #MedSky
Blue Faery: Equipping Patients for the Fight Against Liver Cancer
Blue Faery: The Adrienne Wilson Liver Cancer Association offers patient-friendly materials, psychosocial support, and tools for families to advocate for themselves.
www.rarediseaseadvisor.com
January 16, 2026 at 5:05 PM
💙 "Our work will improve the quality of life for HCC patients, support their caregivers and give them hope, information, and a voice. "

That is the mission behind @bluefaeryliver.bsky.social

Visit their site to learn more: https://bit.ly/4qpY1oN

#BlueFaery #RareDisease #HCC #LiverCancer
January 16, 2026 at 4:46 PM
✨We are kicking off 2026 with our first Rare Advocacy Spotlight of the year, featuring @bluefaeryliver.bsky.social and it's mission to advance #LiverCancer research, education, and advocacy.

Read here ➡️: https://bit.ly/3YIY9Dy

#RareAdvocacySpotlight #HCC #BlueFaery
Rare Advocacy Spotlight: Blue Faery - The Adrienne Wilson Liver Cancer Association
Learn how Blue Faery supports liver cancer patients through advocacy, education, and research in this Rare Advocacy Spotlight.
bit.ly
January 16, 2026 at 4:00 PM
In patients with #NMOSD, specific therapies approved by the @fda.gov demonstrate superior efficacy and safety compared with #Rituximab and off-label treatments. Study in Neurology Neuroimmunology & Neuroinflammation.

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

#RareDisease #Neurology
FDA-Approved Therapies for NMOSD Superior to Rituximab and Off-Label Treatments
FDA-approved NMOSD therapies such as inebilizumab and C5 inhibitors show better efficacy than rituximab or off-label treatments.
bit.ly
January 15, 2026 at 10:11 PM
A novel modified microcrystalline cellulose-based adsorbent holds promise as a potential therapeutic for #WilsonDisease. Study in International Journal of Biological Macromolecules.

Read more: https://bit.ly/4k1QFpf

#RareDisease #MedSky
Novel Decoppering Cellulose Holds Promise for Wilson Disease
A novel modified microcrystalline cellulose-based adsorbent holds promise as a potential therapeutic for Wilson disease.
bit.ly
January 15, 2026 at 8:49 PM
The co-occurrence of pernicious anemia and warm autoimmune hemolytic anemia (#AIHA), while rare, can complicate diagnosis and treatment options for patients, according to a case report published in @cureusmedical.bsky.social.

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

#RareDisease #MedSky
Rare Overlap of Pernicious Anemia and Warm AIHA: Case Report
The rare overlap of pernicious anemia alongside warm AIHA requires special treatment as presented in 2 case studies.
www.rarediseaseadvisor.com
January 15, 2026 at 8:05 PM
Physicians can use an integrated multichannel automatic cellular profiling (#iMAP) system as a complementary technology to the existing clinical cytopathology workflow in #Cholangiocarcinoma (CCA). Study in Small.

Read here: https://bit.ly/4jCmd4C

#RareDisease #CCA
New Cellular Profiling System Can Aid in the Accurate Diagnosis of CCA
An integrated multichannel automatic cellular profiling system can be a complement to the existing clinical cytopathology workflow in CCA, research shows.
bit.ly
January 14, 2026 at 5:51 PM
In patients with #Acromegaly, apnea hypopnea index (#AHI) and subjective sleep quality improved significantly after treatment, according to a prospective study from India published in Endocrine Research.

Read more: https://bit.ly/45ECyA0

#RareDisease #Endocrinology
Sleep Quality and Apnea Hypopnea Index Improve After Acromegaly Treatment
In acromegaly, AHI and PSQI improved after treatment, while IGF-1 normalization was achieved in only one-third of patients.
bit.ly
January 14, 2026 at 4:48 PM
Current research has linked specific molecular mechanisms to the varied clinical presentations of #NeurofibromatosisType1 (#NF1), thus serving as a practical guideline for clinical management of the disorder.

Read more: https://bit.ly/4qB1LE9

#RareDisease #MedSky
Specific Protein Domains in Genotype-Phenotype Correlation Analysis of NF1
Current research has linked specific molecular mechanisms to the varied clinical presentations of neurofibromatosis type 1 (NF1), thus serving as a
bit.ly
January 12, 2026 at 5:10 PM
Contemporary, validated algorithms are needed to improve the accuracy and utility of claims for #Hemophilia research. Study in @haemophilia.bsky.social @eahad.bsky.social

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

#RareDisease #Hematology
Validated Algorithms Needed to Improve Hemophilia Identification in Medicare Data
Contemporary, validated algorithms are needed to improve the accuracy and utility of claims for hemophilia research.
bit.ly
January 12, 2026 at 4:10 PM
Despite clinical symptom response, cellular imbalances in the immune systems of pediatric patients with immune thrombocytopenia (#ITP) remained. Study in Pediatric Blood & Cancer. @aspho-hq.bsky.social

Read here: https://bit.ly/4sx4obi

#RareDisease #Hematology #Oncology #ImmuneThrombocytopenia
Cellular Immune Imbalances Remain in Pediatric Patients With ITP Despite Clinical Response
Despite clinical response to treatment, cellular imbalances in the immune system remain in pediatric patients with ITP, research shows.
bit.ly
January 11, 2026 at 6:18 PM
#IPF and #PPF are associated with faster lung function decline than #SScILD, but #Nintedanib reduces the rate of decline to a similar extent across these fibrosing #ILD subtypes.

Learn more: https://bit.ly/4jO8pnX

#RareDisease #Pulmonology
Effect of Nintedanib on FVC Found to BeConsistent Across Fibrosing ILDs
Disease progression was different between IPF and PPF compared with SScILD, but the relative treatment effect was comparable.
bit.ly
January 10, 2026 at 8:09 PM
Integrated clinical-genomic nomograms substantially improved the prediction of acute myeloid leukaemia (#AML) transformation and survival outcomes in Chinese patients with myelodysplastic syndromes (#MDS). @brjhaem.bsky.social

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

#RareDisease #Hematology
Genomic Models Sharpen AML Risk and Survival Prediction in Chinese MDS
Integrated clinical-genomic models more accurately predict AML transformation, OS, and PFS than IPSS-R/M in Chinese MDS.
bit.ly
January 10, 2026 at 7:19 PM
The Clinical Frailty Scale was associated with early treatment discontinuation among older adults with chronic lymphocytic leukemia (#CLL) treated with #Zanubrutinib. Study in Hematological Oncology.

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

#RareDisease #ChronicLymphocyticLeukemia #Hematology #Oncology
Frailty Scale May Predict Treatment Cessation in Older Patients With CLL
Among patients with CLL aged 65 years or older receiving zanubrutinib, discontinuation at 12 months was higher in those with CFS above 3.
bit.ly
January 9, 2026 at 10:40 PM