null We Care About Rare!
Researchers, advocates and patients gather on Rare Disease Research Day at the RI-MUHC
March 6, 2020
Source: RI-MUHC. On February 28 the Consortium for Rare Disease Research (CRDR) at the Research Institute of the McGill University Health Centre (RI-MUHC) hosted a half-day event showcasing clinical and research programs focused on rare diseases.
Why care about rare diseases? Globally, it is estimated that more people are affected by rare diseases (350 million) than by HIV (36.9 million). Moreover, as Dr. Don Vinh explains, “Rare diseases – especially those with a genetic basis – provide a human model to define the biological mechanisms of human diseases.” The 2020 event drew 160 participants from the McGill University Health Centre network, including basic research scientists, clinician-scientists with pediatric and adult specialties, trainees and research staff. Patients and representatives from patient advocacy groups and rare disease foundations also came to discuss their experiences and learn more about the latest research.
The seal of success on this year’s event was ensured by its master of ceremonies, the journalist, radio and TV personality Yvan Martineau, who is also a patient at the MUHC. Martineau’s experience with a rare immunological disorder thought, initially, to be symptomatic of severe asthma has made him an enthusiastic advocate for research in rare diseases.
“Every bout of pneumonia that I had meant two weeks in hospital, with loss of salary,” said Martineau, “but I’m now treated with oral medications and without hospitalization.” He credits a dedicated team of clinicians with saving his life and so felt honoured, as he said, to give back by participating in the Rare Disease Research Day event.
Networking with advocacy groups and foundations gave momentum to the event, as did a strong line-up of speakers. The 2020 program featured the work of Dr. Geneviève Bernard, a world-renowned expert on genetically determined white matter disorders, more specifically leukodystrophies. Dr. Danica Stanimirovic from the National Research Council (NRC) presented work that is helping to develop affordable versions of gene therapies in Canada through a new federal program.
Another special guest was Dr. Bill Gall from the U.S. National Institutes of Health (NIH), who spoke about the Undiagnosed Disease Program. The goal of this program, he explained, is to phenotype patients with new rare diseases that do not have a disease diagnosis. The program also helps discover and identify new diseases causing genes, thus helping clinicians and researchers learn more about the types of mutations that cause a disease.
Helping a community that is often not understood
Asked how rare disease research has changed over the past few years, clinician-scientist Dr. Nancy Braverman said that “it has been a very exciting time, since more and more therapies are in clinical trials. We have foundations regularly partnering with us. And now we can focus on access and additional therapies to address all disease.” Browsing through 27 poster presentations from graduate students, postdoctoral fellows, and research and clinical staff, she added, “It’s great to see the students and their excitement out there as they gave their presentations!”
Work in rare disease research means trying to help a community that is often not understood, according to Aaron Sphar, a graduate student supervised by Dr. Geneviève Bernard. “By combining state- of-the-art technology and advocacy groups,” he said, “we are better able to help these people with unique care needs.”
Dr. Aurélie Tréfier Trindade, a postdoctoral fellow supervised by Dr. Arnold Kristof at the RI-MUHC, participated in the oral poster pitch session. “This Rare Disease Research Day was a great opportunity to share with patients how science advances day after day, and to demonstrate how patients are now essential allies in research,” she said. Her postdoctoral work aims to develop new therapies for lymphangioleiomyomatosis (LAM), a rare lung disease.
Two prizes for abstracts were awarded at the event. The prize for the best three-minute oral pitch went to Wajih Jawhar, a graduate student supervised by Drs. Nada Jabado and Livia Garzia at the RI-MUHC. Isabelle Carrier, who works with Dr. Roderick McInnes at the Lady Davis Institute and with Drs. Loydie Jerome- Majewska and Myriam Srour at the RI-MUHC, earned the prize for best poster presentation.
Wajih Jawhar said that he considers research on rare diseases to be important because “it has a profound impact on humanity,” a challenge that he is privileged to take part in. “I can help regardless of where I am,” he said, “and where the patients are.”
Hearing about the experiences of rare disease patients is the best spur for laboratory research, according to Isabelle Carrier. “Most patients with rare diseases are hoping for a cure within weeks, and the testimonials they delivered at the Rare Disease Research Day were heartbreaking,” she said. “Research, especially using mouse models, takes months to years to complete, thus rare disease research has inspired our lab to find the answers to our research questions as quickly as possible."
We would like to thank the organizing committee and the Consortium for Rare Disease Research leadership for their hard work in planning this year’s event: Dr. Donald Vinh, Ms. Melanie Langelier, Dr. Arnold Kristof, Dr. Nancy Braverman, Dr. John Mitchell, Dr. Myriam Srour, and Dr. Bettina Mucha-Le Ny. This multidisciplinary event would not have been possible without the support of the RI-MUHC CHHD, IDIGH and RESP programs and their administrative teams in overseeing the event.
A special thank-you to our partners!
The organizers would like to thank everyone who participated in the 2020 Rare Disease Research Day. A special thank you to our sponsors, listed below, and to the foundations, patient advocacy groups and patients who shared their experiences today.
- aHUS Canada – atypical Hemolytic Uremic Syndrome
- Association des Patients Immunodéficients du Québec
- Fondation HTAPQ – hypertension artérielle pulmonaire du Québec
- Canadian MPN Network
- Mastocytosis Society Canada
- McGill University Health Centre Foundation
- Montreal Children’s Hospital Foundation
- Scleroderma Québec
- PVNH Support and Awareness
- PKD Foundation of Canada
- L’Association de la neurofibromatose du Québec
- McGill’s Rare Disease Interest Group
- Regroupement Québécois des Maladies Orphelines
- PBC Society of Canada
- The Isaac Foundation
About the MUHC Consortium for Rare Disease Research
The MUHC Consortium for Rare Disease Research (CRDR) unites clinicians and scientists focused on rare diseases. Clinically, our goal is to optimize medical care and health care delivery at pediatric and adult levels, including a corridor of service to facilitate referrals and transition care across the lifespan. Scientifically, the consortium’s goals include the integration of expertise in cross-disciplinary research, expanded biobanks, the implementation of state-of-the-art genomics for diagnosis and partnerships with industry for pre- clinical and clinical trials.