Added to Email Alerts

Rare Diseases

Latest News & Journal Articles View All

Alert

FDA Approves First Treatment for Thyroid Eye Disease

FDA Approvals January 22, 2020
Single Gland Excision for MEN1 Primary Hyperparathyroidism

Clinical Endocrinology January 20, 2020
FDA Accepting Less Data, More Surrogate Endpoints in Trials

Medscape Medical News January 15, 2020
Blackstone Raises Three-Quarters of Targeted $4.6 Bln Life Sciences Fund

Reuters Health Information January 13, 2020
Regeneron's Bone Disorder Drug Reduces Lesions in Mid-Stage Study

Reuters Health Information January 10, 2020
Asian Genomes Pilot Study Finds Novel Variants, Highlights Diversity

Reuters Health Information January 10, 2020
Efficacy and Safety of Apremilast for Behcet's Syndrome

Rheumatology January 10, 2020
Alert

FDA Approves Avapritinib (Ayvakit) for GIST with Mutation

FDA Approvals January 9, 2020

View All

Perspective View All

Confessions of a 'High-Yield' Doctor

Commentary November 20, 2019

Skipping lectures. Diagnosing via Twitter. Today's medical trainees eschew traditional teaching techniques for 'higher-yield' approaches.
The Week That Wasn't: New Virus, Child Dementia Treatment, Chemo Bubbles

Article November 15, 2019
5 Things to Know About CIDP

Article September 20, 2019
Stop Incentivizing Drug Companies for More Rare Disease Drugs

Commentary May 28, 2019

View All

Case Challenges View All

A 14-Year-Old Boy With Unexplained, Recurring Fever

Case Challenge June 17, 2019

A 14-year-old boy presents with a 2-week history of unrelenting fever and generalized fatigue. What is the most likely diagnosis?
A 56-Year-Old Woman With Paresthesia and Choking

Case Challenge December 26, 2018
A Visual Field Defect in a Patient With History of Seizures

Case Challenge October 9, 2018
Recurrent Infections in a 5-Year-Old Boy

Case Challenge July 30, 2018

View All

Medscape Editorial Collaborations

Conditions in Focus

Advisory Board

Stephanie L. Austin, MS, MA

Priya S. Kishnani, MD

Marshall L. Summar, MD

Editor

Amy Nadel