It takes a team: how researchers, families, and advocates are advancing rare disease research

Treating rare diseases takes a team. Doctors, researchers, patients, and advocates all play a role. Because each condition affects only a small number of people, progress depends on these groups working together to better understand diseases and develop new treatments.

At the University of Minnesota, a designated Rare Disease Center of Excellence, these partnerships come to life. Teams work side by side to study rare diseases, improve diagnosis and care, and learn more about how these conditions develop. Along the way, these discoveries often lead to insights that can help people with more common health conditions, advancing science more broadly.

The people behind the advances

Dr. James Cloyd, a professor in the Department of Experimental and Clinical Pharmacology and Director of Orphan Drug Research at the University of Minnesota, has spent much of his career studying rare epilepsy conditions. He has seen firsthand the power of collaboration in rare disease research.

He emphasizes that collaboration is essential to advancing rare disease research—and that progress rarely happens alone.

“The University of Minnesota has an outstanding group of faculty and staff dedicated to research and clinical care of individuals with rare disorders,” Dr. Cloyd said.

The challenges of being rare

There are more than 7,000 known rare diseases. In the United States, a disease is considered rare if it affects fewer than 200,000 people.

Because each condition affects relatively small numbers of patients, researchers often face challenges such as recruiting enough participants for studies and finding specialists with expertise in the condition.

A simple question changes lives

Earlier in his career, Dr. Cloyd was approached by colleague, Dr. Robert Kriel, with a simple question: could parents help manage a certain condition that occurs with their child’s epilepsy at home instead of calling 911?

The question focused on cluster seizures, a condition where multiple seizures occur in quick succession. That conversation launched a line of research that eventually led to three treatments parents can use at home to help manage these episodes.

Dr. Cloyd said the impact of these treatments has been meaningful for families.

“Some of those parents wrote testimonials, saying ‘my husband and I went on a date for the first time in five years’ because they had a safety net,” he said. “They could lead a more simple life.”

The role of patient advocacy

Patient advocacy groups play an important role in rare disease research. These organizations raise awareness, connect families with resources, and support research by building networks and raising awareness about research opportunities.

Events like the University of Minnesota Rare Disease Day Program bring together patients, families, patient advocacy groups, researchers, and clinicians  to share information, make connections, and highlight progress. Dr. Cloyd helped organize one of Minnesota’s early Rare Disease Day events fourteen years ago in partnership with Gillette Children’s Hospital. Since then University of Minnesota Center for Orphan Drug Research and the Stem Cell Institute have annually sponsored the program.

A bright future

Despite the challenges, Dr. Cloyd is optimistic about the future of rare disease research. Advances in biomedical science are helping researchers learn more about these conditions and identify new treatments.

“We can actually tell families that there is hope,” he said. “They’re not alone, and advances are being made.”

Many of those advances are possible because individuals and families choose to participate in research studies. Their involvement helps researchers better understand these conditions and move new treatments forward.

Want to get involved in rare disease research? StudyFinder can help you get connected to research opportunities.