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Rare Diseases

Latest News & Journal Articles View All

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FDA Approves Orphan Drug Evinacumab-dgnb for Homozygous FH

Orphan Drug Approvals February 11, 2021
Beyond COVID-19: Can mRNA Treat Diseases, Too?

WebMD Health News February 10, 2021
Alert

FDA Grants MET Inhibitor Tepotinib Accelerated Approval for NSCLC

FDA Approvals February 4, 2021
COVID-19 Virus May Prompt Body to Attack Itself

WebMD Health News February 2, 2021
Meta-Analysis Finds Much Less Lupus Than Expected

Medscape Medical News February 2, 2021
Consensus on Diagnosis, Management of Acute Flaccid Myelitis

Medscape Medical News January 22, 2021
Alert

FDA Approves First and Only Treatment for AL Amyloidosis

FDA Approvals January 20, 2021
Alexion Pauses Enrollment for COVID-19 Study Testing Its Rare Blood-Disorder Drug

Reuters Health Information January 15, 2021

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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

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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

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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