At last, time for a true celebration.
After years of raising awareness and funds, those who have worked with the Ara Parseghian Medical Research Fund (APMRF) had time to rejoice: The FDA in September approved the first two treatments for Niemann-Pick Type C (NPC) disease, a rare, devastating illness that took the lives of three of Ara Parseghian’s grandchildren.
Cindy and Michael Parseghian, who is the son of the late Notre Dame football coach, created the Fund (first as a foundation) in 1994 after three of their four children were diagnosed with NPC. Sadly, Michael Jr., 9, Christa, 10, and Marcia, 16, died from the disease, between 1997 and 2001.
The discovery of treatments for NPC were enabled by years of funding of research by the APMRF, and is among the highlights celebrated by researchers, patients, and others associated with the University of Notre Dame’s various initiatives to combat the lack of therapies and support for rare diseases.
Rare diseases are those that affect less than 200,000 people in the United States, or about 65 per 100,000 people worldwide. However, with more than 7,000 possible rare diseases, more than 300 million people live with one, according to a 2024 Lancet article.
Because there are generally few or no treatments, people with rare diseases and their families often have to fight for a diagnosis, for time with doctors, and, eventually, funding to treat their disease. Through several programs and events, Notre Dame has embraced the study of rare diseases to help a global need.
The Boler Parseghian Center for Rare Diseases
The heart of Notre Dame’s rare disease initiatives, the center brings together researchers from various disciplines, including biology, chemistry, and engineering, to tackle rare diseases through a collaborative approach.
Scientists including Santiago Schnell, the scientific director and William K. Warren Foundation Dean of the College of Science who is a computational biologist, Xin Lu, John M. and Mary Jo Boler Collegiate Associate Professor in Biological Sciences, Crislyn D’Souza-Schorey, Morris Pollard Professor in Biological Sciences, Brian Blagg, Charles Huisking Professor and Director of the Warren Center for Drug Discovery, and others work together in different areas to explore the genetic and other causes of disease.
From rare cancers to NPC and other disorders, researchers have made incremental advances in understanding the underlying mechanisms of disease.
Lu, who is also affiliated with the Harper Cancer Research Institute, has developed novel cell and animal models to investigate mechanisms and treatments for rare cancers. He has used several types of FDA-approved cancer treatments based on the findings using these models. Recently, he discovered a combination treatment that could help reduce or eliminate tumor cells in a novel mouse model of penile cancer.
“Common cancers have a lot of models, but rare cancers are largely neglected,” he said.
The Patient Advocacy Initiative and Minor in Science and Patient Advocacy
Dave and Cathleen Reisenauer, who have two children with a rare disease, were the first to help establish the University of Notre Dame College of Science Rare Disease Patient Advocacy Initiative by funding the Reisenauer Family Directorship for Patient Advocacy Education and Outreach. Barbara Calhoun, MSN, NP is the inaugural director for the initiative, which launched in 2022, and is the director of the minor in science and patient advocacy.
The Patient Advocacy Initiative grew out of the Boler-Parseghian Center for Rare Diseases, but the family began assisting Notre Dame with resources for rare disease research in 2017 when they sought help for research into Glycogen Storage Disease Type III (GSDIII).
Two of the Reisenauers’ children, Peter, 34, and Cayla, 32, have the genetic disorder. The disease is caused by a buildup of a complex sugar, glycogen, in the body’s cells. Patients may have weak muscles and poor muscle tone, and could have a weakened heart.
“The next generation, and the next generation, and the next generation of students will make sure that just as ‘non-rare’ diseases get focused on, there will be advocacy for people who are dealing with a diagnosis of a rare disease,” Dave Reisenauer said. “We want them to get care all through their lives, and want their caregivers to receive the support they need.
“We hope that this program at Notre Dame helps students in the minor be lifelong advocates for those with rare diseases and those that love and care for them."
The Ara Parseghian Medical Research Fund
Since its inception, the APMRF has raised millions of dollars to support NPC research, funding scientists working on everything from drug discovery to clinical trials. The initiative connects families affected by NPC with researchers, creating a community driven by shared determination to find a cure.
Notre Dame’s leadership in NPC research has attracted world-renowned experts in the field, accelerating progress and providing hope to those who previously had none. NPC affects the body’s abilities to break down cholesterol and fats inside of cells, preventing them from working properly. Over time, the cells die, affecting the brain, nerves, liver, and even bone marrow. Currently, it is always fatal.
At Notre Dame, the Fund raises money through several means, including a yearly golf tournament at Pebble Beach, a long-distance bike ride, and other events. Conferences have helped bring together patients and researchers.
After years of hoping for FDA approval of a drug, Sean Kassen, director of the APMRF, is delighted by the recent good news, but knows there’s more work to do.
"These therapies mark a significant step forward, slowing the progression of NPC and offering children and their families renewed hope and a better quality of life. But while these treatments are a leap in the right direction, they do not yet stop the disease," he said. "Today we are working on the next generation of therapies that will hopefully stabilize one of the proteins that is the root cause of disease for most NPC patients, and looking to support genetic technology advancements."
Rare Disease Day at Notre Dame
Notre Dame has participated in Rare Disease Day, an international event that aims to raise awareness about rare diseases and the challenges faced by those affected. From lighting up the Hesburgh Library, to activities for families, to lectures by leading researchers and testimonials from patients and their families, the day fosters community that many who live with rare diseases do not have.
Attending in 2023, Skylar Sevison, now in fourth grade, and her mother, Nicole, celebrated their connection with Notre Dame’s rare disease researchers. Skylar, of Goshen, Ind., was diagnosed at 14 months with neurofibromatosis Type 1 (NF), a rare disease that causes benign and malignant tumors on the skin and along the nerves, and also brittleness in weight-bearing bones.
Sevison is a nurse, so she understands how to research diseases and find treatments — skills that have allowed her to navigate the medical world easier than many. Still, finding support is tricky.
“I deal with this by speaking and sharing, but to be quite honest, because my family is non-medical, the programs at Notre Dame brought them into the fold and actually made them more comfortable hearing or talking about Skylar’s disorder,” Sevison said.
Rare Disease Day is on Feb. 28 (or 29) each year.
Featured photo: Ainee Martin, '25, a senior Chemical and Biomolecular Engineering major, has spent the last two years doing research in the laboratory of Olaf Wiest, Grace-Rupley Professor of Chemistry & Biochemistry. She has been synthesizing a new class of therapeutic agents for treatment of Niemann-Pick type C disease.)
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Story by Deanna Csomo Ferrell