A wheelchair sits on a sunny expanse of speckled tile, its back to the camera, casting a strong shadow that stretches toward the viewer.
Portrait of Santiago Schnell wearing a gray suit with red bow-tie
University of Notre Dame

Fighting for those with rare diseases

Luchando por las personas con enfermedades raras

Rare disease research can be as uncommon as the diseases themselves, but Notre Dame is committed to understanding, treating, and advocating for those affected by rare diseases

What would you fight for?

Annie Hamilton is a junior at Notre Dame. She studies Chinese and sociology, laughs with her roommates in Ryan Hall, dreams about attending law school, and works out, albeit in a bionic suit. She occasionally needs a hand—like when her wheelchair gets stuck in a snowdrift or when a professor lectures quickly and she needs help with note taking, but here at Notre Dame, she says resolutely, she feels seen as a person, not as a patient.

“Coming to college was very scary for me, but I knew that Notre Dame was the right choice for me because of the community that I felt here on campus,” Hamilton said. “When I visited, everybody was super nice to me and held doors open and were really helpful to me.”

A close up of Annie Hamilton
Annie Hamilton, a junior at Notre Dame, has Friedreich’s ataxia, a rare disease.
Annie Hamilton walks in physical therapy with the help of a full body suit.
Physical therapist Francis McDonald, right, and aide Ryan Wright from McDonald Physical Therapy help Annie Hamilton with the robotic exoskeleton suit during a physical therapy session at Smith Center for Recreational Sports.

Living with Friedreich's Ataxia

At age 9, Hamilton was diagnosed with Friedreich’s ataxia, a rare disease that impacts around 15,000 people. As her father, Tom, recalls, she was a clumsier child, and it was only after rounds of occupational therapy and physical therapy that a therapist suggested the issue was perhaps neurological. That suggestion led them toward an eventual diagnosis.

Tom explained, “The disease progresses at a relatively slow pace, but it’s just a little bit every day. It starts with clumsiness and bad gait, and eventually you end up in a wheelchair, have a hypertrophic heart, some scoliosis, slurred speech, and everything slowly deteriorates.”

Even with a diagnosis, there wasn’t a clear path forward—because the disease is so rare, there are few experts and little momentum to rally toward research or a cure.

“The doctors unfortunately at the time had very little resources to give us. We were more or less given a pamphlet and told, good luck,” Tom recalled.

Luck wouldn’t be enough for the Hamilton family. Tom quit his job in finance so the family could focus on finding a cure for Friedreich’s ataxia. They set up a family foundation, started biotech companies, sought out clinical trials, and joined boards of national organizations. They modified equipment meant for similar neurological conditions to assist Annie as her symptoms shifted. Quickly, the family became experts in Friedreich’s ataxia.

They aren’t alone. Families across the country are wrestling with similar diagnoses. In the United States, a disease must impact fewer than 200,000 people to be labeled as rare, but there are some 10,000 known rare diseases. That leaves the chances of being diagnosed in the US at 1 in 10, or around 30 million Americans.

Notre Dame’s commitment to rare disease research

Santiago Schnell, the William K. Warren Foundation Dean of the College of Science, explained, “What happens with rare diseases is that they’re called orphan diseases. And the reason is because the federal government and the pharmaceutical industry don’t see them as a priority. And they’re not a priority because the number of individuals that suffer from a particular rare disease is very small. As a result, effective treatments exist for fewer than 5 percent of all rare diseases, leaving hundreds of millions worldwide without options.”

At Notre Dame’s Boler-Parseghian Center for Rare Diseases, faculty are undaunted by the so-called small numbers. They study everything from patient data to tissue samples, molecular targets, and diagnostic and treatment efforts. Notre Dame was one of the first academic institutions in the country to establish a basic science rare disease research center.

Schnell emphasized the immense importance and opportunity in researching rare diseases: “Studying a single rare disease not only advances our understanding and treatment of that specific condition, but also unlocks valuable insights with broad implications for countless other diseases. For instance, research funded by the Ara Parseghian Medical Research Fund at Notre Dame on Niemann-Pick Type C (NPC)—a terminal neurodegenerative disease primarily affecting children—has deepened our knowledge of other cholesterol storage-related diseases and neurological conditions like Alzheimer’s. Additionally, recent findings suggest that mutations associated with NPC might even prevent Ebola virus infection.

It is a missed opportunity for academic institutions and the biomedical research community not invested in rare diseases as they hold the key to uncovering fundamental secrets of health that can transform medicine for a wide range of conditions.

Bust of Santiago Schnell wearing a gray suit and red bow tie.

Santiago Schnell

William K. Warren Foundation Dean of the College of Science

Patient-centered research

To do that well, Notre Dame factors another distinctive aspect into its research: It places patients and families at the center of its work. While Notre Dame researchers had not studied Friedreich’s ataxia before Annie’s matriculation, when she arrived, the College of Science asked how it could help. In addition to students providing help with everything from taking notes to brushing teeth, the college was also prepared to throw some academic weight behind the issue. Ultimately, Zach Schafer, a biologist with expertise in cancer cells, and Rebecca Wingert, a biologist who studies kidney development, offered to consider how their work might apply to Friedreich’s ataxia. Students in their labs jumped on board as well.

A portrait of Santiago Schnell, with him a blurry yellow foreground.
Santiago Schnell, William K. Warren Foundation Dean of the College of Science

Tom Hamilton said, “Notre Dame’s work in rare disease is really different than most schools. They definitely fight above their weight, and they coordinate and bring researchers together from around the globe to fight and push for many rare diseases in the community.

“At Notre Dame, rare disease research is right on mission. How are we going to make the world a better place? How are we going to coordinate selflessly to cure these disorders for people that can’t help themselves?” he added.

The research does link inextricably to Notre Dame’s mission, though perhaps in this case it’s the uncommon good. What’s more, for Schnell, a mathematical biologist, the issue is personal. Schnell’s mother and sister lost repeated pregnancies and children, only to discover they were carriers of a rare condition called Haddad syndrome. When Schnell was a Wellcome Trust Senior Research Fellow at Oxford, one of his nephews was hospitalized and his sister called to implore him: Use your gifts to study rare diseases.

  1. 65 undergraduates enrolled in the patient advocacy minor
  2. 15 rare diseases studied and advocated for at the Boler-Parseghian Center
  3. 29 patient advocacy program graduates by 2024
  4. 300 Notre Dame undergraduates supporting rare disease research
  5. 0.1% or $38 million of NIH funding supports rare disease research (as of 2019).
  6. $60 million in funding provided by The Ara Parseghian Medical Research Fund for NPC research
Undergraduate researchers Isaiah Pereira ’25 and Ainee Martin ’25 chat in the Helquist lab in Stepan Chemistry.
Undergraduate researchers Isaiah Pereira ’25 and Ainee Martin ’25 chat about Niemann-Pick Type C research in a Stepan Chemistry Hall lab.
Undergraduate researcher Isaiah Pereira ’25 is doing research into Niemann-Pick Type C.
Undergraduate researcher Isaiah Pereira ’25 is doing research into Niemann-Pick Type C.

Looking ahead

It made a lasting impact on him. Throughout his career, he has published extensively on numerous rare diseases, demonstrating his unwavering commitment to this critical area of research. Since joining Notre Dame, he has intensified the College of Science’s focus on rare diseases, overseeing the launch of the nation’s first minor in rare disease patient advocacy. He has also expanded engagement with the rare diseases community. He holds a deep commitment, both personal and professional, for families like the Hamiltons—people facing seemingly insurmountable challenges yet determined to make something good from it, all while caring for a loved one.

“The Hamilton family is truly extraordinary. Few families possess the strength and determination not only to seek a cure for their own child, but also to champion the cause of others suffering from rare diseases. Their commitment transcends self-preservation; they are dedicated to advancing medical discoveries that will allow others to lead healthier lives. Their advocacy requires immense courage and bravery, qualities that are rare and admirable,” Schnell said. “The Hamilton family’s dedication to this cause is an inspiration, and there are few who could undertake such a noble and altruistic endeavor.”

It isn’t easy, Tom said. He recalled that soon after Annie’s diagnosis, he zeroed in on the potential for severe heart issues. He felt it was a pressing need to start there. But it was Annie who nudged him to redirect course based on her own lived experience of losing mobility.

“I think as a parent you think you know best the needs of your child, and my wife, Karen, and I pushed to try to provide everything we could for Annie,” he said. “The reality is Annie knows what she needs and has really given us direction as to what kind of support she needs, what kind of medicines that would be important. She often said to us once, ‘I’d rather have a short sweet life than a long miserable one.’ And she knows best and she has guided our family through that process.”

Annie Hamilton and Olivia Guilford chat on their way to their residence hall.
Annie Hamilton at her desk in her residence hall.
Annie Hamilton in class with three of her friends, one female and two males.

Annie Hamilton is a junior at Notre Dame who enjoys hanging out with friends, attending class, and living in Ryan Hall.

Now at Notre Dame, Annie offers that perspective to students in the College of Science’s Patient Advocacy Initiative and the minor in science and patient advocacy. Students in the program are offered training to help them to better advocate for the rare disease community, whether they go on to medical school or into advocacy roles.

“I chose to be a patient advocate because I think that it’s very important for doctors and researchers to hear from the patients, because a lot of times they don’t really get to see the actual patients,” Annie said. “I think that it’s very important to share my experiences with them and everybody that I can in order to try and help push along research.”

Annie is also a member of the Access-ABLE student club and Notre Dame’s Accessibility Leadership Fellows program, where she mentors younger students with disabilities, especially as they transition to college. And, her father notes, her impact goes far beyond campus.

“Annie also has given her support back to the community. She’s an ambassador for the Friedreich’s Ataxia Research Alliance. She’s spoken at different biotech companies about her experience as a patient, and I think she feels an obligation to not just have it be about her, but to help the entire rare disease community.”

Annie added, “The advice that I would give to anybody suffering from a rare disease about going to college is to step outside of your comfort zone and do things that scare you. I know for me, coming to college was very scary and I did not want to go at all. But I knew that I had to come in order to grow as a person and help myself as well as others.”

Annie Hamilton sitting in her wheelchair while wearing a white sweater.

“I knew that going away to college would be difficult, but when I visited Notre Dame, I knew that it would be the perfect place. I feel seen here.”

Annie Hamilton

Now, she’s staring down her future undaunted. She’s considering law school, the FBI, leveraging her Chinese degree to do business overseas. Her future-facing attitude has trickled down to her dad, too. He now looks at not just a cure for Annie, not just a cure for Friedreich’s ataxia, but for a number of other neurological conditions, too.

“Our ultimate goal for the future is finding a cure for Friedreich’s ataxia,” he said. “And hopefully the findings from that will domino into other diseases like MS and Parkinson’s and other rare disorders.”

Together, they’re fighting not just for Annie, but for so many with rare diseases.

Click to view the Fighting For those with Rare Diseases video featuring Notre Dame student Annie Hamilton and College of Science Dean Santiago Schnell

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