APRIL 2024
We wanted to share with you a recent interview with Dr. Jim Dowling, one of the scientists we are funding to conduct large-scale drug-screening to identify potential treatments for PURA Syndrome. Dr. Dowling is conducting this research in animal models, using zebrafish and worms. This phase of research can set the stage for later testing in humans. 

Jack’s Tomorrow: How did you first get involved in the study of rare diseases?

Dr. Jim Dowling: I have essentially been involved with the study of rare disease since the beginning of my career. My PhD thesis was centered on work trying to understand a group of ultra rare genetic skin disorders, and I have been working in the rare disease “space” ever since.

Jack’s Tomorrow: Through Jack’s Tomorrow, your team at Sick Kids is conducting drug screenings in zebrafish and nematodes. How might this research advance the development of a treatment for PURA Syndrome?

Dr. Dowling: The goal is to identify treatments that ultimately we can bring to the clinic to treat patients with PURA Syndrome. Because we are focused on testing drugs that have already been used in humans, we are hopeful the “translation” pathway (once we identify a successful drug in worms or fish) can be rapid.

Jack’s Tomorrow: Throughout your career, you’ve been focused on discovering therapies for childhood muscle diseases. Can you tell us a little bit about what it’s like to treat young patients with PURA Syndrome and other rare diseases?

Dr. Dowling: I feel very thankful to have been part of the journey for many children and families with rare disease. One of the aspects I like best is being able to provide care across many years, to be there for the low points and hopefully to help create some high ones, and to be there from the time of diagnosis.

Jack’s Tomorrow: How do you view the role of Jack’s Tomorrow and other nonprofit organizations in advancing rare disease research?

Dr. Dowling: Nonprofit organizations like Jack’s Tomorrow are critical for rare disease research. They help tell the compelling story of the individuals who are affected by conditions like PURA, and to motivate and nucleate scientists and clinicians to work on a treatment. In addition, the ability to offer dedicated funding to spur research is a key strength of nonprofit organizations.

Jack’s Tomorrow: What was it like meeting Jack for the first time?

Dr. Dowling: It was a great pleasure and privilege to meet Jack. His energy and happy nature were apparent from the moment I met him. He has a very contagious smile that brings you in to him and makes you want to bring it out more and more.

Jack’s Tomorrow: What do you wish more people knew about rare diseases?

Dr. Dowling: I wish people understood that children with rare disease are still children, with the same interests, quirkiness, and desires, and that they have this extra thing that presents an important challenge for achieving that.

Also, I wish people understood the incredible challenge of parenting children with exceptional needs. I am continually impressed by the spirit, compassion, and energy I witness in the families I am fortunate to help care for. I lastly want to recognize the siblings (like Sid!), who are asked to be strong and resilient and who so often show such great love.

Jack’s Tomorrow: What makes you hopeful about the future of rare disease treatments

Dr. Dowling: I am hopeful we will have meaningful therapies for hundreds of rare diseases in the next 5 years that truly impact the lives and health of individuals affected by these conditions.