The credo for research by Noémi Dahan-Oliel, BSc(OT)’99, MSc’09, PhD’14, into arthrogryposis multiplex congenita (AMC) seems to be to serve youth and their families and include them in her work.
A case in point is an animated film that the associate professor at the School of Physical and Occupational Therapy (SPOT) produced with Sabrina Lasry-Shemie, now a Med-4 student, and Caroline Elfassy, BSc(Rehabilitation Science)’14, MScA(OT)’16, a PhD student at SPOT. An eleven-year-old living with AMC narrates the seven-minute short, while a young adult who also has the condition informs the content, as do parents and clinicians.
The film acts as a primer on AMC, which is an umbrella term used to describe symptoms associated with hundreds of different conditions where at least two joints from different body parts become permanently fixed in a flexed or extended position. It is non-progressive and is usually detected in utero or in the first months of life.
Dahan-Oliel, a clinician scientist at Shriners Hospitals for Children - Canada, believes in patient-oriented research. “The idea is that we can involve youth and family members as partners from the start when we're developing our research priorities, our research questions, the design and methodology of the research, for example.”
She cites a registry that she’s building (with the help of colleagues Dr. Reggie Hamdy and Dr. Frank Rauch) that collects patient information, as well as details of the disease’s effects from children seen at six Shriners hospitals in Canada and the United States. She already had an idea, as a clinician, of what specifics were important, but she decided to also consult parents and youth.
“Some parents said, ‘We want to know about developmental milestones. I want to know if my baby at this time can stand or roll over.’ These are the different milestones that are so important for a mom or a dad,” she says. “We hadn't thought about that. We thought of different outcomes such as range of motion, mobility— things that we usually collect at the clinic. So, we added a measure to look at developmental milestones in babies to five-year-olds.”
She says it’s important to include parents and youth in studies if only to repay them for what they offer to the researchers. “Research participants give us their time, they share with us personal information, they give saliva and blood samples. Sharing the progress and findings of the work done through patient support groups, social media, and web platforms is important to advance knowledge.”
Dahan-Oliel, who earned all three of her degrees at ƻԺ, began her work on this specific disease after obtaining her PhD in 2014. She says she loves ƻԺ and appreciates the kind of supervision and guidance she has received from mentors such as Dr. René St-Arnaud, Barbara Lee Mazer, MSc’86, PhD’01, and Annette Majnemer, BSc(OT)’80, MSc’85, PhD’90, grateful to the latter for encouraging her to stick with AMC despite the challenges associated with studying a rare disease.
In terms of funding, Dahan-Oliel is supported by a clinical research scholar award from the Fonds de la Recherche en Santé du Quebec and has recently won a prestigious Rising Star Award from the American Society for Bone and Mineral Research, which includes a grant to expand her work on the registry at the international level. She wants to focus on finding more genetic explanations and advancing therapies for AMC, which affects one in 3,000 babies. The underlying primary cause is suspected to be decreased fetal movement during development, attributed to genetic and/or environmental factors.
Sometimes more buy-in from the families comes after meeting with them to collect samples. Recently, a child who was just under two years old had come to her clinic for genetic sequencing with his grandfather, who also had AMC. “So, we talked to him about the registry,” she said. With this case being a familial type, the entire family agreed to participate in the genomics part of the registry and send in saliva samples for several family members. “There’s excitement from parents to learn more. I am thankful for the funding received from CIHR and Shriners Hospitals for Children, as well as from local agencies, and a dedicated interdisciplinary team. There’s a belief in our work. It’s just so positive.”
Dahan-Oliel is also working on the project with UBC geneticist and pediatrician Dr. Judith Hall, along with some European geneticists. This will allow for the registry to expand and bring in more future genetic tests, something out of reach for many AMC patients. “This is something that’s been heating up together with international colleagues in the US and Europe—this lab approach—that you need to do more genome sequencing when looking at the disease.”
Not only has Dahan-Oliel been looking for input on the disease from lay people living with it, she is also collaborating with UBC Professor of Orthopedics Dr. Bonita Sawatzky, who has AMC and researches mobility and quality of life issues for people with spinal-cord injury. Sawatzky, who also consulted on the short film mentioned earlier, has worked with Dahan-Oliel on several projects and presented findings at conferences.
The work with people who are living with rare diseases such as AMC reminds the Montreal researcher of “the slogan used by the disability rights movement and policy activism, ‘Nothing about us without us,’” she says. “It’s important to have that perspective, so that we are able to conduct research that is meaningful, but, even more so, that truly involves the different individuals we work with as partners.”