In Notre Dame’s Bold Fight Against Rare Diseases, Researchers Join Families to Forge a Path of Healing, Hope, and Discovery

In the ever-evolving landscape of medical research, there are few battles as poignant and pressing as the fight against rare diseases. Often overlooked due to their infrequency, these conditions collectively affect more than 300 million people worldwide. For the patients and families living under their shadow, the journey is marked by uncertainty, isolation, and desperate hope for answers. At the University of Notre Dame, a new wave of determination is changing that narrative.

At the heart of this movement are Sean Kassen and Barb Calhoun, two figures leading the charge in an effort that transcends laboratories and lecture halls. Through their podcast and advocacy, they have helped shine a light on how Notre Dame’s research community is embracing collaboration, empathy, and innovation in the race to develop treatments—and, just as importantly, restore hope.

Kassen, the Director of the Boler-Parseghian Center for Rare and Neglected Diseases, and Calhoun, who serves as the Director of Patient Advocacy and Engagement at the Center, have become critical bridges between science and society. In their podcast, they offer more than just updates from the lab—they amplify the voices of those impacted by rare diseases and bring stakeholders together in ways that are redefining what academic medical research can look like.

“We see the power of stories,” Kassen says in the episode. “When a family shares their journey, it’s not just emotional—it becomes a roadmap for scientists. It’s information that helps shape the direction of discovery.”

That sense of shared mission is evident in every layer of Notre Dame’s approach. Instead of a purely academic lens, the research community at the university seeks to operate with humanity at its core. Kassen and Calhoun emphasize that the fight against rare diseases must be people-first, rooted in both scientific rigor and heartfelt compassion.

“Rare diseases are not rare to the people who live with them,” Calhoun shares. “That’s something we remind ourselves of constantly. Our job is not only to investigate the biology of these diseases but to understand the human experience surrounding them.”

Notre Dame’s commitment extends far beyond traditional research labs. The Boler-Parseghian Center has become a collaborative hub where families, physicians, biotech partners, and faculty members work together to shorten the long road to diagnosis and treatment. The Center was founded in memory of Ara Parseghian, the legendary Notre Dame football coach who lost three grandchildren to Niemann-Pick Type C, a rare and fatal neurodegenerative disorder.

That personal connection to tragedy has shaped the university’s unwavering stance. “Coach Parseghian brought a spirit of perseverance that lives on through the Center,” Kassen says. “It reminds us that we can’t be passive. We need to push boundaries, build alliances, and pursue every angle of research that could offer relief to these families.”

Each year, the Boler-Parseghian Center hosts the Rare Health Exchange, an event that gathers patients, scientists, and students to exchange insights. Families speak directly to researchers, highlighting symptoms that may not appear in the literature but are vital to understanding how a disease manifests. These conversations fuel actionable projects—drug screening, gene therapy, and molecular modeling all emerge from the real-life challenges families share.

In the podcast, Calhoun explains how critical this interface is. “Many of the breakthroughs in rare disease research come not from a single ‘aha’ moment, but from persistence. It’s the result of listening to families, adapting hypotheses, and working through failure. When patients and researchers are in dialogue, science moves faster—and more meaningfully.”

Notre Dame’s model doesn’t stop at early discovery. There’s an equal emphasis on what happens after the science—the clinical trials, the regulatory hurdles, the distribution of treatments, and the need for support systems. By bringing ethicists, social scientists, economists, and legal scholars into the fold, the university is trying to ensure that innovation isn’t siloed and inaccessible.

That inclusive model is proving effective. In recent years, research projects launched at the university have led to the identification of new biomarkers, accelerated drug repurposing trials, and established patient registries that help track progress and tailor interventions. Some of the work is already influencing policy, with Notre Dame researchers advising lawmakers on how to streamline approval processes for ultra-rare treatments.

Importantly, students are deeply involved in this mission. Undergraduate and graduate programs offer rare disease research tracks that place young scientists directly in the field, collecting patient histories and assisting with molecular diagnostics. For many, it becomes more than an academic exercise—it’s a calling.

“I had a student come to me in tears after attending a family panel,” Kassen recalls in the podcast. “She said, ‘This is why I want to go into medicine. I want to fight for people who are often forgotten.’ That’s the culture we’re building.”

The campus itself has become a sanctuary of sorts for families navigating the maze of rare diseases. Through Notre Dame’s Patient Advocacy Initiative, families are invited to participate in campus events, provide feedback on research proposals, and guide priorities from a grassroots level. Rather than being treated as passive subjects, they are empowered co-authors in the search for answers.

Calhoun notes that this type of inclusion is rare in academic spaces but vital to success. “We’re not here to do research on people. We’re here to work with people. That distinction changes everything.”

One particularly moving example involves a young boy diagnosed with Batten disease, a fatal genetic disorder. His family traveled to South Bend to meet with Notre Dame scientists after years of dead ends. Working closely with clinicians and researchers at the Boler-Parseghian Center, they were able to get a personalized genetic analysis that offered a path to experimental treatment. While his condition remains challenging, his family says they finally feel seen, heard, and supported.

Those victories—while sometimes small—represent major shifts in the rare disease landscape. Hope, which can be scarce in such journeys, finds firm ground at Notre Dame.

Still, challenges remain. Funding is limited, many diseases are poorly understood, and navigating the pharmaceutical industry can be daunting. But through their podcast and daily work, Kassen and Calhoun urge listeners to remember the impact that collaboration can bring.

They emphasize the importance of advocacy and public engagement, encouraging listeners to reach out to their elected officials, donate to rare disease research funds, and share patient stories across platforms. “Awareness turns into pressure,” Kassen says. “And pressure turns into change.”

As Notre Dame continues to expand its role in this space, the vision remains clear: a future where rare diseases no longer mean rare hope. In that pursuit, knowledge and compassion remain the university’s greatest assets.

In one of the most emotional moments of the podcast, Calhoun shares a quote from a parent who lost a child to a rare condition: “The world may call it rare, but it was our everything. Thank you for making him part of your mission.”

With every patient, every experiment, and every connection forged, Notre Dame honors that sentiment. The fight is far from over—but it is no longer one that families have to face alone.