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Drug repurposing research paper presents a new path for a rare disease

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Dr. Luke Chen

By Allison Currie

Some students lead on the field. Some excel in the classroom. And some manage to do both, becoming three-time Academic All-Canadians while publishing a clinically significant research paper in their undergraduate degrees.

Dalhousie University students and varsity soccer players Ricky Schwartzkopf and Andrew Chen recently co-authored a paper on the use of ruxolitinib to treat severe refractory immune neutropenia, a rare and challenging condition with limited treatment options.

Andrew Chen and Ricky Schwartzkopf
L-R Andrew Chen and Ricky Schwartzkopf, Dalhousie University students, varsity soccer players and co-authors of clinically significant research paper. 

Their work builds on the work of Andrew’s father, Dr. Luke Chen, a globally respected hematologist with Nova Scotia Health, professor of medicine at Dalhousie University and affiliate professor at the University of British Columbia. Dr. Chen is known internationally for his contributions to the study of rare immune-mediated blood disorders.

Together, this intergenerational collaboration highlights not only a promising direction for patient care, but also the remarkable potential of young students already making their mark on the medical community.

Dr Chen and son Luke
R-L DR. Luke Chen and son Andrew

A career shaped by rare diseases

Dr. Chen spent fifteen years in Vancouver developing a focus on rare inflammatory blood diseases, many of which lack adequate diagnostic tests and treatments due to limited commercial and governmental research incentives.

“I think where my work is a little bit different, is that a lot of the focus in modern medical education is to become a subspecialist in one disease or one area,” says Dr. Chen. “But I’ve developed an interest in a number of different rare diseases. The difficulty in having a rare disease is that patients don’t show up at the hospital with the name of the disease stamped on their forehead, which makes it difficult to get to the right specialist. Even after a diagnosis is made, there may not be a clear path forward in treatment. A lot of my work involves “borrowing” diagnostic tests and treatments developed for common diseases, and “repurposing” them for use in rare diseases.”

Since relocating to Nova Scotia in 2023, he has been working on establishing the Coastal Rare Inflammatory Disease (CoRID) Program. The program aims to bridge a critical gap in healthcare by ensuring that no patient or physician faces a rare inflammatory disease alone. The program supports physicians across Canada who treat rare inflammatory diseases, conducts innovative research, and is working to establish a new fellowship at Dalhousie for specialized training in these conditions.

He collaborates closely with Every Cure, an organization whose main mission is to find new uses for existing, approved drugs. Earlier this year the organization was featured in the New York Times, along with Dr. Chen, who had a patient with a rare blood disorder called Castleman disease who had failed all known therapies and was nearing hospice care.

Using Every Cure’s artificial intelligence algorithm, Dr. Chen and Dr. David Fajgenbaum (founder of Every Cure) identified a novel therapy and applied it to the patient. Within weeks, the patient was in remission, highlighting the incredible potential of AI to unlock hidden cures in existing medications.

There are four core goals to Dr. Chen’s work:

  1. improving diagnostic testing,
  2. advancing drug repurposing,
  3. fostering local and international collaboration, and
  4. training the next generation of physicians.

The research paper co-authored by Ricky and Andrew—both research assistants in the Coastal Rare Inflammatory Disease Program—reflects the intersection of these guiding principles, especially when it comes to training the next generation of physicians.

“We’re both interested in a career in medicine, and we knew we wanted the chance to be part of a major research project,” says Andrew. “It was exciting to co-write the paper, collaborate with health professionals, work closely with my dad and learn what goes into producing academic literature at a high level.”

A first new treatment in 25 years

The paper describes two patients who had severe immune neutropenia (a very low level of neutrophils, a type of white blood cell) that was refractory (meaning it did not respond to standard treatments).

They were treated with ruxolitinib, an oral medication that blocks certain immune signaling pathways to see if it could help raise their neutrophil counts. It’s a drug not normally used for this. In other words, repurposed.

They then monitored how well their neutrophil counts recovered and checked for side effects.

In both cases, ruxolitinib restored neutrophil (white blood cell) counts to normal and the treatment was well tolerated which meant the patients didn’t have major, unmanageable side-effects from the drug.

Based on these successful outcomes, the paper suggests that ruxolitinib may be a promising treatment option for other patients with similarly severe and treatment-resistant immune neutropenia.

“This drug is usually used to treat another disease,” says Ricky. “This is now the first new treatment for severe immune neutropenia in 25 years. It’s a great example of how drug repurposing can help shape the future of treatments.”

While further investigation is needed to determine how widely effective the drug may be, the findings are already influencing clinical care. At the QEII in Halifax, Dr. Chen treated a 20-year-old patient with severe immune neutropenia and no remaining treatment options using the same approach. Within three days, the patient’s white blood cell counts normalized, and she was discharged.

Mentorship that changes future careers—and patient outcomes

These cases highlight not only the promise of drug repurposing but also the incredible potential of combining mentorship of the next generation, with innovative research and clinical expertise.

“I really enjoy teaching and training the next generation of physicians,” says Dr. Chen. “I have trainees from every level—fellows, residents, medical students, and undergraduates like Andrew and Ricky.”

The impact of this approach is also recognized at a system level.

“Dr. Chen’s work shows how mentorship is a powerful driver of stronger healthcare in Nova Scotia,” says Dr. Ashley Hilchie, Director of Research at Nova Scotia Health. “By involving students directly in meaningful research on rare diseases, he’s not only advancing patient care today, but also shaping the physicians and researchers of tomorrow. Teaching trainees to think critically, ask research-driven questions, and contribute to discovery is essential to building the future of medicine in our province.”

Research is care. Clinical studies translate research into potentially life-changing therapies that can help you, your loved ones, and your community. To learn more about how to get involved, visit Nova Studies Connect.