Rare Diseases: What it Takes to be a Medical Orphan

Course Description

What if you are born with a condition, which very few people know about and for which there are no cures? Or what if there is a cure, but it is very expensive and you have to take it throughout your life? How can you encourage pharmaceutical industry invest in such cures and have policy makers consider such conditions when they draft new regulations? Rare diseases are not rare. There are 7000 diseases, but in aggregate, these diseases affect 30 million (i.e. 1 in 10) Americans of all ages and additional millions of people globally. Most of these conditions are serious and life-altering and children account for more than 50% of those affected. However, only 5% of all rare diseases have FDA-approved treatments. Thus, there is a large unmet need in this area and one way to address this is to raise awareness about these conditions.

This course will comprise of weekly seminars and related readings on topics related to the understanding of rare diseases and the economics, regulatory and public policy aspects of development of drugs (orphan products) to treat these conditions in the US and across the globe. In this highly interactive course, students will learn from and network with researchers, healthcare professionals and business leaders and gain sufficient background to appreciate the scope of this multidisciplinary field. Students will work in teams with a patient advocacy organization to learn firsthand the challenges related to the diagnosis and treatment of a specific rare disease, barriers to research and development and deliver possible solutions to a specific challenge that they have identified.

schematic of activities: getting to speed, lectures, and workshops
course feedback word cloud

15 Weeks of Learning

15 Weeks of Learning

19 guest speakers + 4 community organizations

  • 11 patients /Rare disease advocates
  • 6 faculty
  • 4 local companies
  • 1 pharma
  • 1 policymaker

Module

Topics

1: Introduction

Topic Introduction (Definitions for rare disease/orphan drugs)
Patient Perspective on living with a rare disease

2. Rare Diseases

Diagnostic Odyssey
Genetics of Rare Diseases
Rare to Common
The journey after newborn screening
Ethics & Policy in Rare Diseases
Natural History Studies
Imaging Techniques for Research
Big Data: Application of Informatics
Rare Disease Models (cell and animal models)

3: Orphan Drugs

Regulatory Aspects:
Drug Development Process – Role of the FDA
The Orphan Drug Act: Origin, Content & Impact
Economics:
Pharmacy Marketplace & Orphan Product Pricing

4: Clinical Trials in Rare Diseases

Current Therapies: Developing Novel therapies vs. Drug Repurposing
Stem Cell Therapy
Gene Therapy in Rare Diseases
Case Studies on Existing Therapies
Challenges and Opportunities
Discussion on Tools Needed for a Clinical Trial

5: Community Engagement

How to Make a Difference in the Community
Role of Patients in Drug Development
Role of Patient Advocacy Groups- Community Workshop

Community Workshop

Community Workshop

Patient Advocacy Groups

Student Groups Final Projects
Sickle Cell Foundation of Minnesota

Rare Disease Responders

Sickle Cell warriors video

Krabbe Connect Zebras

Infographics:

Krabbe disease

Newborn screening

Legislation

Organic Acidemia Foundation MN Crew  Infographic on Organic Acidemia Clinical Trials
Kasners Kick Duchenne U Girls  Flyer promoting a book by Kasners Kick Duchenne