By Allison Currie
In March, the New York Times published an article regarding a growing trend in which artificial intelligence (AI) is used to repurpose existing drugs for rare diseases.
The article focuses on a man named Joseph Coates, who nearly died from POEMS syndrome, a rare blood disorder that damages your nerves and affects other parts of your body, before his girlfriend reached out to Dr. David Fajgenbaum for help. Dr. Fajgenbaum, a physician-scientist-patient at the University of Pennsylvania suggested an experimental treatment plan identified using an AI model, combining chemotherapy, immunotherapy and steroids. Coates's health improved rapidly, allowing him to undergo a stem cell transplant and ultimately go into remission.
That same article also featured a success story with a connection closer to home. Nova Scotia Health’s Dr. Luke Chen, a hematologist and a professor of medicine at Dalhousie University and an affiliate professor at University of British Columbia, also treated a patient nearing hospice care using the same AI-driven technology. Within weeks, the patient was in remission, highlighting the incredible potential of AI to unlock hidden cures in existing medications.
But Dr. Chen’s resume far exceeds this one incredible success story. Learn more about his work and how he became involved with Dr. Fajgenbaum below.
Can you tell us a little bit about your field of work?
I worked in Vancouver for 15 years as a hematologist and during that time I developed an interest in rare inflammatory blood diseases. Many of these diseases are considered “orphan diseases”, which means good diagnostic testing and therapeutic strategies are lacking.
Because these diseases are very rare, there is very little incentive from pharmaceutical companies to study them, and it is also quite challenging to get government funding to improve care and research.
The diseases that I study include histiocyte disorders, hemophagocytic lymphohistiocytosis (HLH), IgG4-related disease, eosinophilic disorders, Castleman disease, VEXAS, Still's disease and others
Since moving to Nova Scotia in 2023 my focus has been on building up a Coastal Program for Rare Inflammatory Diseases.
How does your work or any research that you do translate into healthcare solutions for the patient/public?
There are four pillars to the work that I do.
First, is improving diagnostic testing. Often diseases that I see require simple modifications to existing laboratory tests. For example, when I came to Halifax, I worked with my colleagues in hematopathology to adjust our flow cytometry testing so that we could detect a disease called lymphocyte variant hypereosinophilic syndrome. We already had the components of the testing placed for other diseases and just needed to adjust how we analyzed the data. The lab was able to do this for me.
Second, is drug repurposing. Many rare and orphan diseases do not have any treatments that are specifically approved for those diseases. Getting a drug approved for a disease is very expensive and pharmaceutical companies tend to focus on common diseases. But many of these drugs, once approved by Health Canada, can be re-purposed to treat rare diseases as well. I have been working with our excellent pharmacy team at Nova Scotia Health to streamline the ways in which we can get access to these drugs for patients with rare conditions.
Third, is collaboration both locally and internationally. Locally, the work I do depends on working with laboratory and pharmacy colleagues, our Hematology Research team, and health professionals from other disciplines. I really appreciate the support that my colleagues provide in improving care for patients with rare diseases. We also live in a connected age, and I have colleagues at the University of Pennsylvania, the Cincinnati Children’s Hospital, Harvard, Yale and other centers who are doing work that can really benefit the patients I see here. My colleagues are happy to help me, and I am happy to contribute to their research and clinical work. This leads to important collaborations, such as a series of studies on COVID-19 with Dr. George Goshua at Yale School of Medicine.
Fourth, is training the next generation of physicians. The best part of this job is being able to teach and mentor the best, brightest students and resident physicians in Canada. My goal is always for my student trainees to become a better physician than I am.
What is the biggest challenge/opportunity in your field of work or research?
The biggest challenge is disseminating the knowledge that we collectively have. Every week I receive numerous phone calls and emails from physicians across Canada, the United States and the rest of the world about patients with rare diseases. Often other physicians and patients feel that they are alone on an island struggling with a disease that in fact is very familiar to me, or to the other researchers that I collaborate with. I don’t believe any patient or physician should have to deal with the rare inflammatory blood disorder on their own. Finding a way to scale-up and make connections more efficient is one of the many goals of the Coastal Program for Rare Inflammatory Diseases.
The opportunities are everywhere. I am so excited about the research that we are doing here and with her collaborators across North America. The trainees that I have coming through research and clinical training are outstanding. The future is very bright.
What are your thoughts on the growing trend in which AI is used to repurpose existing drugs for rare diseases?
One of the collaborations I am most excited about his being on the advisory board for Every Cure. Every Cure is a Philadelphia-based nonprofit founded by Dr. David Feigenbaum. He actually has Castleman disease himself and has dedicated his research program to repurposing drugs for rare orphan diseases.
The collaboration that was featured in the New York times is a great example of how we can use every tool at our disposal to repurpose drugs for rare diseases. The article focused on my patient in Vancouver who is dying of Castleman disease. Working with Dr. Fajgenbaum, we used a combination of traditional science (proteomics, RNA sequencing, etc.) and AI as well as old-fashioned bedside clinical reasoning to identify a promising therapy for the patient (TNF inhibition), and it worked. This work was published in the New England Journal of Medicine on February 6, 2025, which was precisely the two-year anniversary of my patient’s remission.
Why is research and participation in research important?
We live in an age when information is expanding exponentially. Many of the diseases I treat now did not even have a name twenty-five years ago. Now we know much more about diseases like IgG4-RD and Castleman’s, and the subtypes of these disease that behave differently and need tailored therapeutic strategies. Increasingly, targeted therapies are available now. When the COVID-19 pandemic first arrived in Canada it became clear that many of the patients were dying of severe inflammation rather than of viral illness. I was one of the first people in North America to repurpose an anti-inflammatory drug, tocilizumab, to treat people with severe COVID-19.
At that time, it was considered bold and even risky but ultimately we saw that this improved survival in COVID-19. When we are dealing with rare diseases, we can’t sit around waiting for someone in Boston or Paris to come up with a readymade solution. We need to be willing to take reasonable chances and then report on our findings to advance the science.
We also can't let the fact that we are a small population in Nova Scotia lead us to believe that we can’t make meaningful contributions to science. We have incredible opportunities here at Nova Scotia Health and at Dalhousie University to make meaningful contributions to new diagnostic methods and novel therapies.
If you’d like to learn more, check out Dr. Chen’s interview on the Rare Care podcast.
Research is care, and clinical studies help translate research into potentially life-changing therapies that can help you, your friends and your loved ones. Want to know more about how to get involved? Visit Nova Studies Connect today: novastudiesconnect.ca
