Dr. Donald Vinh is often referred to as the Research Institute of the McGill University Health Centre (RI-MUHC)’s Dr. House, as he and his team work to crack some of the country’s most complex medical cases. It is estimated that there are more than 7,000 rare diseases on earth, affecting over 300 million people; most are thought to be genetic, others are acquired. For Dr. Vinh, no disease is insignificant, and every patient counts. On this Rare Disease Day, we asked the scientist about the motivation behind his work and that of his colleagues, as well as the impact philanthropy can have on ensuring every patient gets the care they need.
Question: The MUHC Foundation is inviting the community to Dream Big and help us push innovative and life-saving research forward. What is your big dream for rare disease research in the short and long-term?
Dr. Vinh: Because I study patients with genetic disorders of their immune system, my interests and goals overlap between those of The McGill Interdisciplinary Initiative in Infection and Immunity (MI4) and those of the MUHC’s Consortium for Rare Diseases Research (CRDR).
My big dream for rare disease research is simple: in the short-term, it is to be able to tell patients and families affected by rare diseases that the cures are coming. In other words, we want to be able to tell patients that despite them having a disease that is rare, we are familiar with their disease, we have expertise in their disease, and we have a path forward to diagnose, understand, and manage their disease. In the long-term, it is to be able to tell them the cure is here.
Q: How does informing the public and getting them involved through philanthropy help push this type of research and care forward?
Dr. Vinh: Patient-centered bench-to-bedside research into rare diseases is a team sport. It requires a coordinated effort, involving clinicians, scientists, government, private industry, philanthropists, and patient advocacy groups, to build a system that relentlessly seeks to discover cures and bring them to patients.
This means that it requires not just time and talent, it requires funding. And while rare diseases are often serious, debilitating, and life-threatening, they are less familiar to the public. Unfortunately, this lack of popularity relegates them to being viewed as unimportant, and often, underfunded. But, when you or a family member is affected by a rare disease, there is nothing more important. Thus, a whole ecosystem of public and private investment is required to discover and deliver therapeutic opportunities to patients.
This philosophy is why the Consortium for Rare Diseases Research is excited about our annual Rare Disease Day at the RI-MUHC. This is a special day that we look forward to because of the community it brings together: health care workers, scientists, regulators, policy makers, pharmaceutical partners, and, most importantly, the patients we serve. It’s all made possible thanks to the Consortium’s committee: Dr. Inga Murawski, Mélanie Langelier, Dr. Éric Béliveau, Naima Abbadi, Dr. Nancy Braverman, Dr. Arnold Kristof, Dr. John Mitchell, and Dr. Myriam Srour.
Q: What would you say is the most rewarding part of the work that you do? What drives you and your team every day?
Dr. Vinh: My motivation is very simple: I am intrigued – and admittedly, obsessed – by finding the solutions to the puzzles I face, in every patient I meet. Every patient with a rare disease is a message that nature is trying to tell us about how the human body works, and my goal is to hear those whispers, listen to them, decipher them, and translate them back into a meaningful way to help not only those affected patients and their families, but to see how those lessons learned can better serve all patients. I, and all my other colleagues who care for and study rare diseases, function as medical and scientific advocates for our patients.
The MUHC Foundation is supporting Dr. Vinh’s research under the The McGill Interdisciplinary Initiative in Infection and Immunity (MI4). Learn how you can help make a difference.