Advancing Rare Disease Research and Patient Advocacy | Notre Dame Stories

Mon, Feb 17, 2025

In the United States, a disease must affect fewer than 200,000 people to be considered rare, but there are over 8,000 known rare diseases. That leaves the chances of being diagnosed with a rare disease in the U.S. at around 1 in 10, yet research and funding remain scarce.Rare diseases, commonly referred to as "orphan diseases," are often overlooked. As a result, effective treatments exist for less than 5% of all rare diseases, leaving millions of people without viable options.Notre Dame is committed to understanding, treating, and advocating for those affected by rare diseases. This episode of Notre Dame Stories explores how researchers at the Boler-Parseghian Center for Rare Diseases are driving groundbreaking research to uncover new treatments and bring hope to patients and families.Guests • Barb Calhoun, Reisenauer Family Director for Patient Advocacy Education and Outreach; Director of Minor in Science and Patient Advocacy • Sean Kassen, Director of the Ara Parseghian Medical Research Fund at the University of Notre Dame----- Video Chapters 00:00 Introduction: Fighting for those with rare diseases 04:57 Barb Calhoun shares her Notre Dame story 06:11 Barb discusses the benefits of rare disease research in a non-medical school 07:21 Barb talks about the Patient Advocacy Minor offered at Notre Dame. 09:07 Barb shares how the Patient Advocacy Program impacts students 11:57 Barb and Jenna share the inspiring story of a student with Friedreich's ataxia 16:24 What it means that Notre Dame is committed to patient advocacy 18:41 How Dean Santiago Schnell leads with compassion and serves as a role model to others 21:57 Sean Kassen shares his Notre Dame story 24:48 How the Boler-Parseghian Center for Rare Diseases came to be 28:56 Sean shares his personal motivation for working with those with rare disease 29:54 How Notre Dame connects with families for rare disease research 33:12 Sean talks about recent and upcoming breakthroughs in rare disease research 35:04 Sean shares new Niemann-Pick Type C treatment options available 36:11 Sean tells us why rare disease research is so important to him----- Show links Episode page (https://stories.nd.edu/podcasts/advancing-rare-disease-research-and-patient-advocacy/) Fighting For website (https://fightingfor.nd.edu/) Fighting for those with Rare Diseases (https://fightingfor.nd.edu/2024/fighting-for-those-with-rare-diseases/) Patient Advocacy Initiative (https://patientadvocacy.nd.edu/)----- Notre Dame Stories is the official podcast of the University of Notre Dame. It was created by the Office of Public Affairs and Communications and hosted by Jenna Liberto with Executive Producer Andy Fuller. It was produced by Jenna Liberto, Josh Long, and Staci Stickovich. Videography was done by Zach Dudka, Josh Long, Tony Fuller, and Michael Wiens. Original music was provided by Alex Mansour. Listen and subscribe wherever you get your podcasts.

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Advancing Rare Disease Research and Patient Advocacy | Notre Dame Stories

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