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Rare Diseases

Latest News & Journal Articles View All

FDA approves topical treatment for junctional, dystrophic EB

MDedge News December 26, 2023
Study Links Specific Drugs to Delusions of Parasitosis Risk

MDedge News December 26, 2023
EU Conditional Approval: Gene Editor to Treat Blood Diseases

Medscape Medical News December 18, 2023
Europe Approves Avapritinib for Rare Mast Cell Disease

Medscape Medical News December 13, 2023
Patient Support Programs Need Transparency, Researchers Say

Medscape Medical News November 29, 2023
SpringWorks' Noncancerous Tumor Drug to Cost $29,000 Per Month

Reuters Health Information November 29, 2023
ACR 2023

Benralizumab Proves Noninferior to Mepolizumab for EGPA

MDedge News November 27, 2023
Are We Ready for Systematic Newborn Genome Sequencing?

Medscape Medical News November 21, 2023

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Perspective View All

S2 Episode 6: Rare Disease: Is It Membranous Nephropathy?

InDiscussion November 21, 2023

Join experts Drs Matthew Sparks and Laurence Beck as they discuss the diagnosis and management of membranous nephropathy, a rare kidney disease.
Ovarian Cancer e-Tumor Boards: Case 4: Ovarian Germ Cell Tumor

e-Tumor Boards November 2, 2023
His Rare Disease's Cure Was Sitting on the Pharmacy Shelf

Expert Interview October 31, 2023
New Federal Oversight of Lab Developed Tests

Commentary October 23, 2023

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Case Challenges View All

A 41-Year-Old on Sildenafil With a Headache While Sleeping

Case Challenge August 22, 2022

A 41-year-old man presents with severe frontal headache that began suddenly and awakened him from sleep. The headache is associated with nausea, vomiting, and subjective fevers. What's the diagnosis?
A Woman With Back, Chest Pain After Eating Wings at a Restaurant

Case Challenge May 31, 2022
An Incarcerated 24-Year-Old With Dyspnea, Fatigue, and Nausea

Case Challenge March 18, 2022
17-Year-Old With Hair Loss, Dysmenorrhea, Thrush, and Diarrhea

Clinical Case March 15, 2022

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Medscape Editorial Collaborations

Conditions in Focus

Advisory Board

Stephanie L. Austin, MS, MA

Priya S. Kishnani, MD

Marshall L. Summar, MD

Editor

Amy Nadel