Added to Email Alerts

Rare Diseases

Latest News & Journal Articles View All

Alert

FDA Clears First Drug to Treat Ultra-Rare Metabolic Disorder

FDA Approvals November 24, 2020
Wasp Venom Can Save Lives. But the Supply Chain Is Shaky.

Undark November 17, 2020
EADV 2020

Birch Bark Derivative Effective for Epidermolysis Bullosa

Medscape Medical News November 2, 2020
Abatacept as Treatment for Diffuse Cutaneous Systemic Sclerosis

Medscape Medical News October 28, 2020
Is the Trump Administration Eroding Trust in the FDA?

Undark October 16, 2020
Preoperative Halo Traction for Severe Scoliosis

Spine October 15, 2020
CDER Chief Reflects on Advances in Rare Diseases

Medscape Medical News October 9, 2020
In Optic Myelitis, Consider Biotinidase Deficiency

Medscape Medical News October 9, 2020

View All

Perspective View All

Why Biliary Atresia Demands Our Respect

Commentary August 19, 2020

Dr William Balistreri explains how interceding quickly can help limit the devastating effects of this rare disease in infants.
Maybe Memorizing the Krebs Cycle Was Worthwhile After All

Expert Interview February 6, 2020
Confessions of a 'High-Yield' Doctor

Commentary November 20, 2019
The Week That Wasn't: New Virus, Child Dementia Treatment, Chemo Bubbles

Article November 15, 2019

View All

Case Challenges View All

My Strangest Case: An Infant With Lumps in Her Belly

Case Challenge June 10, 2020

The parents of a 3.5-month-old girl noticed lumps in her belly while bathing her. This set off an investigation into various rare diseases that could be responsible, with a surprising resolution.
A 25-Year-Old Woman With a Droopy Eyelid and Double Vision

Case Challenge March 20, 2020
A 14-Year-Old Boy With Unexplained, Recurring Fever

Case Challenge June 17, 2019
A 56-Year-Old Woman With Paresthesia and Choking

Case Challenge December 26, 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