The Rare Disease Report page is a resource for medical news and expert insights on rare diseases. This page features expert-led coverage, articles, videos and research on the therapies and development of treatments for sickle cell disease, multiple myeloma, and more.
June 2nd 2023
Gain-of-function STAT4 variants in patients with disabling pansclerotic morphea suggest a potential therapeutic role for JAK inhibition, resulting in improved clinical symptoms and inflammatory markers.
Improving Outcomes in Autoimmune Hemolytic Anemias at the Intersection Between Hematology and Oncology Care
View More
Clinical ConsultationsTM: Focusing on Fabry Disease in Females: Individualizing Diagnostic and Counseling Plans to Improve Long-Term Outcomes
View More
Taking Pompe Disease Management to the Next Level: Optimizing Clinical Assessments and Treatment Decision-Making
View More
C.R.U. Eye Symposium (Current, Relevant, Useful)
11/10/2023-11/12/2023
View More
C.R.U. Eye Symposium (Current, Relevant, Useful)
11/10/2023-11/12/2023
View More
C.R.U. Eye Symposium (Current, Relevant, Useful)
11/10/2023-11/12/2023
View More
Patient, Provider, and Caregiver Connection™: Incorporating the Patient Journey into HS Diagnosis and Management Practices
View More
Patient, Provider, and Caregiver Connection™: Incorporating the Patient Journey into HS Diagnosis and Management Practices
View More
Patient, Provider, and Caregiver Connection™: Incorporating the Patient Journey into HS Diagnosis and Management Practices
View More
Advances In™ Desmoid Tumors: Recognizing Disease Burden, Pathophysiology, and Targeted Treatments in Development
View More
BURST CME™: Taking ALS Management to the Next Level
View More
A Hidden Crisis: The Need for Treatments in Notalgia Paresthetica
March 28th 2023A silent disease characterized as a chronic cutaneous neuropathy, notalgia paresthetica has an unmet need yet to be fully understood and, dermatologists argue, an FDA-approved treatment could help improve understanding of the etiology and prevalence of this disease.
Revolo Readying Data on Allergen Sensitivity Drug
The treatment is a first-in-class peptide derived from mTB Chaperonin 60.1 that is often involved in resetting the immune system. The treatment is being evaluated in patients with eosinophilic esophagitis and allergen sensitivity.
Leniolisib Becomes First FDA-Approved Treatment for Rare Immunodeficiency Disease
March 24th 2023Phase 2/3 data show significant improvement in lymphoproliferation as measured by the reduction in lymph node size and increase in naïve B cells in patients with activated phosphoinositide 3-kinase delta syndrome.
New Biomarkers Predict Adverse Events in Cardiac Sarcoidosis
March 23rd 2023Data from a meta-analysis show late gadolinium enhancement (LGE) on cardiac MRI scans and elevated fluorodeoxyglucose (FDG) uptake on PET scans are both strong predictors of major adverse cardiac events for cardiac sarcoidosis.
Knowledge of Severity, Susceptibility Shape Perceptions of Sickle Cell Trait Testing
March 13th 2023Findings from the study emphasize the importance of disseminating knowledge and education to reduce disease burden after examining healthcare students' knowledge and attitudes towards sickle cell trait (SCT) screening in Ghana.
Is PJP Prophylaxis Indicated in Patients With Giant Cell Arteritis or Polymyalgia Rheumatica?
March 12th 2023Results of a recent study showed that the risk of pneumocystis jiroveci pneumonia (PJP) is low in patients with giant cell arteritis (GCA) and polymyalgia rheumatica (PMR), therefore discouraging the routine prescribing of PJP prophylaxis for this patient population.
AAAAI 2023 Data Identify Dysregulated Pathways in Hereditary Angioedema Prodromes and Acute Attacks
March 1st 2023Approximately 42% of prodrome-associated DEGs were also associated with hereditary angioedema attacks, indicating that multiple enriched gene networks with common hub genes and upstream regulators are shared between the prodromal and acute attack stages.