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Rare Disease Day 2025
In this exclusive Q&A, we sit down with Andrew Steinsapir, MBA, a top gene therapy expert and recent addition to our Scientific Advisory Board, to discuss his passion for rare disease research and his decision to join our board.

Jack’s Tomorrow: Your career has focused on the development of cell and gene therapies. Can you talk about your work how it relates to the study of rare diseases?

Andrew Steinsapir: Throughout my career, I have been privileged to take part in the development of about 70 different therapeutic programs—ranging from very early drug discovery work to approval and supporting efforts including preclinical studies, manufacturing, and regulatory activities. Most, but not all, of those therapeutic opportunities have been for rare diseases.

Jack’s Tomorrow: You recently joined the Scientific Advisory Board (SAB) at Jack’s Tomorrow. What went into your decision to become a board member?

I was personally drawn by Jack’s Tomorrow’s alignment in mission and vision. In my opinion, the organization has a clear and cogent set of goals, has made amazing progress in its tenure, and has an opportunity to make a meaningful impact in PURA syndrome. Jean and Kyle have built an organizational structure and culture that is open and eager to bring on diverse voices to support their mission—so when an opportunity to join was presented, I was happy to sign on.

Jack’s Tomorrow: What is your role as a member of the Scientific Advisory Board for Jack’s Tomorrow? What kinds of advice or input are you providing?

Andrew Steinsapir: My role as a Scientific Advisory Board (SAB) member is to help Jack’s Tomorrow evaluate research opportunities and help ensure that they are scientifically sound, fit-for-purpose, and aligned with the organization’s mission to develop a treatment—and ultimately a cure—for PURA syndrome.

Jack’s Tomorrow: Why are you so passionate about rare disease? When did you know you wanted to work in rare disease research?

Andrew Steinsapir: This is a really hard question to answer. I think it is impossible not to be passionate about rare disease. I have been privileged enough to be in the right place at the right time and believe that when you have the chance to do something or help someone, you have a moral imperative to do so. To steal an answer from a friend and mentor, the more I learn about PURA syndrome or any rare disease, the question that remains unresolved to me is “Why not work on this, too?”

Jack’s Tomorrow: Could gene therapy be applicable for a disease like PURA syndrome?

Andrew Steinsapir: I try to be really careful when answering questions like this one! Drug development is a long and complex road and I do not want to “deal in hope,” so it is important for me to be careful and provide caveats. Gene therapy could be applicable for a disease like PURA syndrome and it is important to explore that potential therapeutic path. There may be equally exciting opportunities in other modalities such as antisense oligonucleotides and traditional small molecules that could hold promise as well. The fact that we have such diverse opportunities is all the more reason to remain diligent and strategic in how we approach translational research.

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

Andrew Steinsapir: Jack’s Tomorrow and other nonprofit organizations play a critical role in providing a voice for patients and caregivers, helping folks know what matters most to the people directly impacted by rare disease, and acting as a clearinghouse for folks interested in the disease. No two diseases are alike, and it is important to have patient and caregiver voices represented in drug development and education efforts. In the case of Jack’s Tomorrow, the organization has done an amazing job developing resources such as animal models of PURA syndrome which can empower researchers to learn more about the disease and test potential treatments which might one day make it into human clinical trials.

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

Andrew Steinsapir: Two major things: 1) That rare diseases like PURA syndrome are more common than they might expect. With an estimated 300 million people worldwide living with rare disease, odds are that you know someone living with a rare disease or someone with a loved one living with a rare disease. 2) That you, no matter your training or background, can make a difference with your time, talents, and energy in the rare disease space.

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

Andrew Steinsapir: Patients, caregivers, and advocates are a continuous and never-ending source of hope. I know a lot of driven and motivated individuals—triathletes, ultramarathon runners, competitive martial artists—but their efforts don’t hold a candle to the drive and passion I see in patients, caregivers, and advocates in the rare disease space. I have had the privilege of meeting with many folks in the rare disease community and am constantly in awe of their tenacity and team spirit. This is a tight-knit community that supports one another and recognizes that progress for any patient or any disease means progress for everyone.