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Boler-Parseghian Center for Rare Diseases

Undergraduate researchers Isaiah Pereira ’25 and Ainee Martin ’25 chat in the Helquist lab in Stepan Chemistry. They are part of the team researching Niemann-Pick Type C.

The Boler-Parseghian Center for Rare Diseases is dedicated to transforming the lives of those affected by rare and ultra-rare conditions. With fewer than 5% of rare diseases having FDA-approved treatments, our goal is to accelerate therapy development, empower patient organizations, and educate future leaders who can bridge the worlds of science, medicine, and advocacy.

Our integrated model unites biomedical research, clinical insight, and patient perspectives. By partnering with leading institutions, families, and rare disease organizations, we work to uncover disease mechanisms, identify therapeutic targets, and move promising ideas toward viable treatments.

The Center is also home to the Minor in Science and Patient Advocacy, the world’s first academic program focused on training students to navigate the scientific, ethical, and interpersonal dimensions of rare disease advocacy.

Ultra-Rare Diseases
A core emphasis of the Boler-Parseghian Center is the study of ultra-rare diseases — conditions that may affect fewer than 1,000, or even fewer than 100, individuals worldwide. Their extreme rarity creates significant challenges for traditional research, diagnosis, and treatment development. Yet it is precisely these challenges that drive the Center’s mission: to bring hope and solutions to patients and families often overlooked by mainstream scientific efforts.

We are deeply grateful to all of the families whose vision and generosity continue to fuel our mission.

Ara Parseghian Medical Research Fund (APMRF)

In 1994, Cindy and Mike Parseghian’s three youngest children — Michael, Marcia, and Christa — were diagnosed with Niemann-Pick Type C (NPC), a fatal genetic cholesterol-storage disorder. Their response was the launch of the Ara Parseghian Medical Research Foundation (APMRF), named in honor of the children’s grandfather, legendary Notre Dame football coach Ara Parseghian.

When the Foundation began, the cause of NPC was unknown and no treatments existed. Since then, global support has enabled major scientific breakthroughs: the discovery of the genetic cause, deep understanding of the disease pathway, and insights that extend to broader cholesterol-related illnesses, Alzheimer’s disease, and viral infections such as Ebola and coronavirus.

In 2010, the Foundation and the University of Notre Dame partnered to accelerate research and coordinate global grantmaking. In 2016, the University established the Ara Parseghian Medical Research Fund at Notre Dame, led by Director Sean Kassen, PhD, to continue the Foundation’s mission and expand its impact.

Today, APMRF supports an international research portfolio that includes gene therapy strategies, newborn screening initiatives, biomarker and clinical endpoint development, small-molecule discovery, and a robust grant funding program.

A major milestone arrived in September 2024, when the first two FDA-approved therapies for NPC were announced — slowing disease progression and offering renewed hope for affected children and families. Yet these treatments do not stop the disease, and APMRF remains steadfast in its mission to support the research that will ultimately lead to a cure.