Dr. Cara O’Neill, Co-Founder and Chief Science Officer of Cure Sanfilippo Foundation, was recently recognized by Global Genes as a Rare Leader.
In an in-depth interview, O’Neill shared her background, how she became involved in Sanfilippo Syndrome and rare diseases, and what she sees on the horizon.
Excerpts of the interview:
How did you become involved in rare disease: I was dropped into the deep end of rare disease when my daughter Eliza was diagnosed with Sanfilippo syndrome Type A in 2013.
[Describe the Foundation’s] Funding strategy: We fund research ranging from basic science to clinical trials across a wide spectrum of therapeutic strategies, like gene therapy, stem cell therapies, substrate reduction, treatments to address secondary storage burden reducing inflammation, exploration of neurotransmitter impairments, and more. Sometimes this also means commissioning new animal models to allow testing of certain approaches. We have now developed an immunodeficient MPS IIIA mouse model and multiple patient specific MPS IIIA and MPS IIIB fly models. Looking at the full scope of what is needed to move children closer to treatments at the earliest possible age, we also support programs that reduce the time to diagnosis via in-kind support of physician education and funding support for newborn screening efforts. We are increasingly looking to expand our wraparound approach to other aspects patients’ lives and the research needed in those spaces.
Guiding principles for running an effective organization: Keep the mission at the forefront of everything you do. Remember who is counting on you to do your job well. Respect the different life experiences that people bring to the table. Lessons learned and the challenges we face often form the basis for the most effective and insightful contributions.
What inspires you: I am inspired by families who want to work the problem with us—families that still find a way to be happy and carry on despite the utter heartbreak of this disease—families who even after their child passes away are fierce advocates. I am also inspired by scientists, doctors, and others in the space who want to dig in deep and commit to solving Sanfilippo not just for us, but with us.
Favorite food: My mom’s homemade vegetable soup.
Learn more about Dr. O’Neill
Read the complete interview with Dr. Cara O’Neill as a Rare Leader on Global Gene’s website.