Recognizing Rare Disease Day 2025
Each year on February 28th, or on that rare occasion, 29th, is Rare Disease Day.
This year we reached out to IG’s patient partners and several researchers and their students across Canada to ask about their involvement in rare diseases and what Rare Disease Day meant to them.
The Institute of Genetics is grateful for all the collaborative efforts made by all people who are looking to improve rare disease people’s lives.
Pénélope Antérieux
PhD candidate at the Centre de recherche du CHU de Québec – Université Laval with Dr. Yannick Doyon
“Our research aims to develop gene therapies to correct mutations responsible for rare metabolic diseases such as Mucopolysaccharidosis Type I, Pompe disease, Hereditary Tyrosinemia Type 1, and Glutaric Acidemia Type 1. For our team, rare diseases represent not only scientific challenges but also urgent medical needs that require innovative solutions. Inspired by advances in genome editing and the unmet needs of patients, we strive to provide a lasting solution using CRISPR-Cas9 technology. By targeting the liver as an enzyme production platform, we hope to reduce dependence on chronic treatments and improve patients’ quality of life. Rare Disease Day is crucial to raising awareness and integrating patients into research to better address their needs.”
Teija M.I. Bily
MD/PhD candidate at The University of Western Ontario with Dr. Patrick O’Donoghue
“I’m Teija, an MD/PhD student passionate about developing new treatments for rare genetic diseases. My previous research and advocacy work with patients and families at SickKids and Cystic Fibrosis Canada shaped my commitment to translating scientific discoveries into real-world treatments as a future physician-scientist. My PhD research, supervised by Drs. Patrick O’Donoghue and Tugce Balci, focuses on developing tRNA-based gene therapies for Huntington’s disease, offering hope for HD and other conditions with limited treatment options. Rare Disease Day is a reminder of why we do this work—to advocate for patients, give hope to an often-overlooked community, and improve lives through new therapies.”
Megan Chaigneau
PhD candidate at Queen’s University with Dr. Paula James
“Access to early genomic testing can help patients with suspected inherited bleeding disorders get answers. Currently, after a long diagnostic journey, half of patients remain undiagnosed and struggle to adequately treat and prevent their bleeding symptoms. Living with diagnostic uncertainty is challenging, but our research aims to diagnose more patients, more quickly! We also hope to generate evidence to advocate for improved access to genomic testing for all patients with suspected inherited bleeding disorders.”
Anaïs Escobar
IG Patient Partner
“I joined the patient partnership committee because, as someone who is a patient living with a rare disease, I wanted to have my voice be heard not just in medical settings as an individual but in a place where it can shape experiences for other people living with rare diseases.
It is such a specific experience to be able to advocate for yourself as a patient and I wanted to be able to help educate researchers and shape how future medical professionals are trained so that patients can have better experiences in getting treatment and answers. I want to be able to help give a voice for patients like me and create environments where they can feel seen, empowered, cared for, and just able to ask for what they need in these settings.”
Emily LeBlanc
IG Patient Partner
“I joined the Committee because I want to help support the Institute of Genetics' work and give my perspective as someone with lived experience. People with genetic disorders are a very diverse group, and I think it is important for our voices to be heard by health researchers and institutions. The Patient Partner Priority and Planning Committee provides a great opportunity for me to contribute.”
Julia Macintosh
PhD candidate at McGill University with Dr. Carl Ernst
“In the Ernst lab, we research rare neurological and neurodevelopmental disorders that affect few individuals and have limited or no treatment options. We are fortunate to have the tools to understand rare genetic diseases better and to study their underlying mechanisms. Gene therapies hold a lot of potential to treat rare disorders. We are greatly inspired by the opportunity to leverage these tools to accelerate the development of treatments for individuals with rare diseases.”
Ryan Marks
PhD candidate at University of Toronto, Hospital for Sick Children (SickKids) with Dr. Ronald Cohn
“My research focuses on developing therapeutic applications of CRISPR/Cas9 and related genome editing technologies for the treatment of Duchenne muscular dystrophy. Rare Disease Day advocates for scientific progress driven by the lived experiences of patients and families. It’s a day to amplify voices and reaffirm our commitment to developing transformative therapies addressing urgent, unmet needs of the rare disease community. Their insights help shape meaningful research questions, ensuring that scientific advances translate into real-world benefits.”
Dr. Patrick O’Donoghue
Associate Professor, The University of Western Ontario
“Driven by our commitment to develop new therapies for rare diseases, the O'Donoghue lab focuses on transfer RNA (tRNA) medicine. tRNAs are molecules that help build proteins, and with support from CIHR and the Huntington Society of Canada we are engineering tRNAs with the ability to restore or ameliorate entire categories of disease-causing mutations, including mutations that cause Huntington’s disease, amyotrophic lateral sclerosis, and Duchenne muscular dystrophy. We anticipate tRNA therapeutics will have broad applicability toward similar mutations across the human genome that cause many rare diseases.”
Dr. Indhu Shree Rajan Babu
University of British Columbia
“My research focuses on promoting equitable access to cutting-edge diagnostics for rare genetic disorders. By accelerating genetic diagnoses, my work aims to end the long, exhausting search for answers that families of affected children often face. Genetic diagnoses deepen our understanding of these disorders and enable tailored treatments for rare disease patients. Rare Disease Day highlights the importance of equitable care and better access to genetic tests, and involving rare disease patients ensures that my work directly contributes to improving the health of this community.”
Serena Thompson
IG Patient Partner
“It's Rare Disease Day and as a patient partner who has extensive living experience in the healthcare system, I have always been interested in the amount of work it takes to research important health problems.
I joined the Institute of Genetics to learn and contribute to better outcomes in healthcare research and services for under-represented conditions. In doing so, I met colleagues who have the same interest as me, so the teamwork comes naturally.
To have my voice heard, and see it develop into something that will help improve lives on the whole, is a privilege.”
Cian Ward
PhD candidate at The University of Western Ontario with Dr. Patrick O'Donoghue
“Inspired by the remarkable advances in targeted drug delivery and gene therapy, I joined the O'Donoghue lab for the opportunity to contribute to this impactful and rewarding field. My research aims to use transfer RNAs (tRNAs) to correct a mutation that causes amyotrophic lateral sclerosis (ALS). With little to no treatments available, tRNAs present a promising alternative, both as a therapy and as a tool to study ALS progression. Rare Disease Day gives researchers the opportunity to highlight the importance of studying diseases like ALS to create a brighter future for those affected.”
Dr. Christopher McMaster
Scientific Director CIHR Institute of Genetics
“Rare disease is the most common disease class in Canadian children (1 in 15 children born), and the most common reason for hospitalization and death for children in Canada. Rare disease as a class still flies under the radar as current reporting practices do not capture them in hospital, provincial, or national records. These kids are invisible to the system. System change needs to happen to open our eyes and our hearts – if these kids are not counted, they do not count.”
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