Learn to Identify Rare Diseases with Our Expert Case Review

Learn to Identify Rare Diseases with Our Expert Case Review

February 28th is Rare Disease Day, an initiative created by the National Organization for Rare Disorders (NORD), to raise awareness and advocate for rare diseases. A rare disease is defined as a condition that affects fewer than 200,000 people in the United States, and there are over 7,000 rare diseases that have been identified.1

To help raise awareness about patients and families of patients living with rare disorders, we’ve partnered with Osmosis.org on their Year of the Zebra initiative, and have created a course of rare disorders that is completely free to the public.

Our Rare Diseases Expert Case Review course provides an examination of rare disorders through the lens of radiologists and the use of medical imaging. Medical imaging is a critical tool in the diagnosis and management of rare diseases. Imaging techniques such as CT scans, MRI, Ultrasound, and X-rays can help identify structural abnormalities, track disease progression, and guide treatment decisions. In many cases, medical imaging is the only way to diagnose a rare disease, making it an essential component of patient care.

Each of the topics in this course contains actual case examples of these diseases and gives learners a perspective on how imaging can be used to help evaluate these entities. For example, join Dr. Stephen J. Pomeranz as he reviews this Rare MSK case.

Read alongside Dr. Stephen J. Pomeranz (ProScan Imaging), Dr. Mahan Mathur (Yale Medicine), Dr. Stefan Zimmerman (Johns Hopkins Medicine), and more as they provide in-depth case reviews of various rare diseases on MRI, CT, and Ultrasound, and showcase their imaging approach to diagnoses such as:

  • Sturge-Weber Syndrome
  • Joubert Syndrome
  • Ehlers-Danlos
  • Charcot-Marie-Tooth
  • CLOVES Syndrome
  • Legg-Calve-Perthes – Pre and Post Operation
  • …and more

More diagnoses will be added throughout the year.

What is The Year of the Zebra initiative?

2023 is the 40th anniversary of the Orphan Drug Act which gave hope to the hundreds of millions of people around the world who are directly affected by rare disorders (also known as “zebras,” because they are less common than horses). Osmosis from Elsevier Health is launching an ambitious initiative called “The Year of the Zebra” to educate millions of current and future healthcare professionals, caregivers, researchers, patients, family members, and the general public about these zebras. Learn more online.


  1. https://rarediseases.org/wp-content/uploads/2019/01/RDD-FAQ-2019.pdf