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DECEMBER 2024
In this exclusive Q&A, we sit down with Dr. Vincent Pons, Associate Study Director at The Jackson Laboratory (JAX), to explore his groundbreaking research and insights into the intersection of genetics, biomedical science, and rare disease. We are especially grateful for his work with Jack's Tomorrow to help find a cure for PURA Syndrome. We would also like to extend our gratitude to the entire team at JAX for their unwavering dedication and expertise, particularly Dr. Matthew Simon, Study Director and Lead Scientist and Dr. Cat Lutz, Vice President of the Rare Disease Translational Center at JAX.

Jack’s Tomorrow: How did the collaboration between The Jackson Laboratory (JAX) and Jack’s Tomorrow come to be?

Dr. Pons: At the JAX Rare Disease Translational Center (RDTC), we collaborate closely with the JAX Center for Precision Genetics (JCPG), which provides families with the resources they need to develop and test mouse models, enabling us to support children and adults with rare diseases. Jack’s Tomorrow approached the JCPG to develop new mouse models that can help scientists better understand PURA syndrome and test gene therapies. Jack’s Tomorrow went through the JCPG nomination process, during which the proposal was evaluated, and the potential contributions of the new model were assessed.

Now that the model has been created through the JCPG, the RDTC is working with Jack’s Tomorrow to characterize the model and will be testing potential therapeutics.

Jack’s Tomorrow: A critical part of your work with Jack’s Tomorrow is the development of a mouse model for PURA Syndrome. How important are animal models in rare disease research?  What have you learned from the mice so far?

Dr. Pons: Mouse models and humans are very similar biologically, allowing scientists to study the physiology of mice to glean information about how diseases develop - including rare diseases like PURA syndrome. We are currently working with three models and have learned that we can track and accurately measure human symptoms in the mice, including seizures, a key symptom experienced by many individuals living with PURA syndrome.

Jack’s Tomorrow: The mice that JAX developed were sent to Yale School of Medicine and SickKids in Toronto for further analysis. Can you talk about the importance of collaboration with other research labs when studying rare diseases? How does sharing work and data across different teams help accelerate progress?

Dr. Pons: Collaboration is crucial in science. We work for families and fight against diseases and time. By combining efforts, we can overcome individual constraints of time and resources. Each of us has different expertise, and by working with other labs, we leverage this diversity to obtain robust data and develop effective therapies for individuals affected by rare diseases.

Jack’s Tomorrow: How can researchers interested in obtaining the mouse model from JAX go about getting access? 

Dr. Pons: It is important for us to provide the scientific community with seamless and exceptional support. Once the mouse model is fully characterized, it will be made available to the public. This means that researchers from around the world will have access to the mouse models through our website, where they can order the model of their choice. As of today, three mouse strains are in the process of being prepared for public release, which is expected to occur in early 2025. 

Jack’s Tomorrow: You’ve also begun to engineer several iPSC (induced pluripotent stem cell) lines so you can begin to study PURA Syndrome in a culture dish. How will this change your research, and what do you hope to learn? Will those be made available for other researchers interested in studying PURA Syndrome?

Dr. Pons: The project of making iPSCs is super exciting because it will provide the scientific community with a powerful new tool to test molecules, explore gene-therapy strategies, and evaluate the potential toxicity of these therapeutic approaches. In combination with mouse models, scientists will be able to use iPSCs to study the PURA pathway. The beauty of iPSCs is that we can derive them into a variety of different cell types. IPSCs can be differentiated into various cells to study the effect of PURA in various cell types.

Although we will not use iPSCs directly at JAX, we will distribute them to other scientists. They will be available through our website in early 2025.

Jack’s Tomorrow: What appeals to you about working on finding a cure for rare diseases like PURA Syndrome?

Dr. Pons: By definition rare diseases affect a small number of individuals, giving them less visibility than more common diseases and consequently receiving less research and funding for therapy development. I am proud to be part of this journey. It is rewarding to see the impact of everyone’s hard work on the lives of families and children. Working on finding a cure makes my job meaningful because I know that ultimately, we help people and advance science.

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

Dr. Pons: The role of Jack’s Tomorrow and other nonprofit organizations is crucial in advancing rare disease research. Jack’s Tomorrow exemplifies this by pushing collaborators to give their best in making progress toward the ultimate goal: a treatment. Other nonprofit organizations contribute by helping the community learn more about the syndrome and raising awareness through articles published in scientific journals. We are all complementary, and teaming up is what will make the difference.

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

Dr. Pons: Importantly, new therapeutic tools. However, we still need to deepen our understanding of diseases and the various biological pathways to identify the right therapeutic strategies. While we now have powerful tools at our disposal, research alone is not enough; laws and administrative frameworks are also crucial.

In 1983, the federal government passed the Orphan Drug Act, which facilitates the process of bringing treatments from preclinical studies to patients. Thanks to this law, the FDA has been able to learn and establish processes tailored to this specific category. As a result, hundreds of drugs for rare diseases have been approved. This is just the beginning, and I’m hopeful for the continued progress to come.  

Jack’s Tomorrow: You attended the PURA Syndrome conference in June; what was that like? What did it mean to you to meet so many families impacted by this disease?

Dr. Pons: The conference in Chicago last June was an incredible opportunity to talk with families, to put a name to children, and, more importantly, to make things real. It’s incredible to see how parents and families adapt their lives and fight to find solutions to improve the daily lives of their children. I witnessed resilience and courage that inspire admiration.