Using AI to Power Custom Treatments for Rare Diseases with Steven Ringel

Summary

---

Podcast Summary: Using AI to Power Custom Treatments for Rare Diseases

Podcast: Becker’s Healthcare Podcast
Host: Chanel Bunger (A)
Guest: Steven Ringel (B), CEO, Kizuna Foundation & GNOME Therapeutics
Date: November 11, 2025

---

Episode Overview

In this episode, Chanel Bunger interviews Steven Ringel, a rare disease patient, advocate, and biotech entrepreneur. The conversation centers on how artificial intelligence (AI) is making custom treatments for rare diseases more accessible. Steven shares his personal journey, the founding of Kizuna Foundation and GNOME Therapeutics, and his vision for the future of personalized medicine powered by AI. The episode also explores regulatory shifts, trends in biotech investment, and practical advice for leaders in healthcare innovation.

---

Guest Introduction & Background

[00:25–02:27]

• Personal Motivation: Steven introduces himself as both an ultra-rare disease patient and sibling. Diagnosed at 17 with an inherited retinal disease, his experience prompted a career dedicated to solving the rare disease treatment gap.

  • “For me, that was a lightning rod moment where I knew I had to do something about the problem.” — Steven (00:41)

• Professional Journey:

  • Spent a decade in commercial roles within precision medicine, educating himself on therapy development.
  • Founded Kizuna Foundation (a 501c3) to build custom gene therapy for a very small U.S. patient group (18 diagnosed people).
  • Realized the need for greater accessibility—most families can't navigate building a drug themselves.
  • Founded GNOME Therapeutics to use AI for making custom therapeutics creation accessible to non-experts.
  • “GNOME is making it easy to go build those custom therapeutics…by leveraging artificial intelligence to scale a lot of the intelligence that experts have.” — Steven (01:57)

---

Using AI to Build Custom Rare Disease Treatments

[02:27–04:21]

• Identifying Candidates:

  • There’s an “access gap” at the first step—figuring out whether a drug can or should be made for a specific patient.
  • Rather than experts manually searching databases for months, their AI engine analyzes dozens of databases, synthesizes outcomes, and generates an interpretable score (0–100) for suitability.
  • “We have built an engine that’s able to call dozens of different databases, interpret what’s coming out of those databases like an expert would, and put that together into a single score, 0 to 100.” — Steven (03:08)

• Patient-Facing Tools:

  • Patients can submit information online, and the AI provides a personalized report indicating the likelihood that custom medicine will work.
  • If the probability is high, GNOME’s team helps patients and families take the next step in development.
  • "We bring that clarity to patients. In the event that it is a good idea and ... a high probability … we’ve then got team that’s able to help those patients and families take the next step in developing a custom medicine." — Steven (04:01)

---

AI and Healthcare Trends Shaping the Field

[04:21–07:17]

Steven highlights three major trends driving innovation in rare disease therapies:

1. Regulatory Shift

   • New U.S. guidance (imminent as of recording) is expected to allow for highly individualized, "N=1" patient-specific drugs in a much more efficient way.
   • "We're hearing comments ... about encoding the possibility for N=1 ... to get a drug made just for them in a way that is very efficient from a regulatory process." — Steven (04:47)

2. Rise of Platform Medicines

   • 40% of new biotechs focus on platforms rather than single drugs—these get two-thirds of the VC funding.
   • The field has grown from three basic medicine classes in the 1980s to “over a dozen and growing.”
   • "We're seeing drugs come to market as not individual therapies, but as platforms … it's more important than ever to think about the full ability for that platform to reach as many patients as possible.” — Steven (05:38)

3. Accelerated Patient Identification

   • 400,000 new rare disease patients are diagnosed yearly, rising 60% year-over-year due to improved genetic diagnostics.
   • It's now more feasible to find and support these patients with custom treatments.
   • “With those new diagnoses, it's now possible to understand which conditions are out there, where are these patients, and think about who is the right patient to receive a custom therapy.” — Steven (06:29)

• Summary:
  • When combined, these trends make a compelling case for scaling AI-powered rare disease therapies.
  • “It really starts to scream that there's an opportunity here to serve these patients differently, if we can do it at an affordable cost at scale.” — Steven (06:44)

---

Looking Forward: The Future of Personalized Medicine

[07:17–08:38]

• Academic & Patient-Led Innovation:
  • Steven cites University of Pennsylvania’s Baby KJ custom gene therapy as a breakthrough, and shouts out institutions like Boston Children’s, Mayo, Columbia, Rady, and St. Jude for their roles as “drugmakers.”
  • Also highlights a trend of parent- and patient-led drug development, referencing groups like LPITA Therapeutics.
  • “I'm really excited to see more and more of those form as families start to wake up and realize that actually it's possible to do something about the diseases that they're suffering with.” — Steven (08:23)

---

Leadership Advice for Healthcare Innovators

[08:38–09:42]

• Self-Care:

  • “We are definitely in a grind hustle culture, but it's really important to take care of your body. I personally meditate a lot and I meditate twice on really hard or stressful days.” — Steven (08:51)

• Passion:

  • “Really passion for what you're doing makes all the difference … for me, like, it's so important that these efforts succeed, that I love every day working on it, challenges and all.” — Steven (09:16)

---

Final Message & Call to Action

[09:42–10:06]

• Steven encourages rare disease patients or families interested in custom medicine to visit GNOME Bio for support.
  • “If you are interested in trying to figure out if custom medicine would be right for you … just visit us at GNOME Bio and we can help you.” — Steven (09:51)

---

Memorable Quotes

• “It wasn’t really possible for the average parent or patient or clinician to build a drug, which is very, very difficult. And that’s why we started GNOME Therapeutics.” — Steven (01:44)
• “Artificial intelligence is incredibly important here.” — Steven (07:12)
• “Take care of your body ... meditate a lot ... passion for what you’re doing makes all the difference.” — Steven (08:52, 09:16)

---

Timestamps for Key Segments

• 00:25–02:27 — Steven’s personal and professional introduction
• 02:27–04:21 — How GNOME Therapeutics uses AI to assess and develop custom treatments
• 04:21–07:17 — Three big trends in AI and rare disease healthcare
• 07:17–08:38 — The future: academic and patient-led advances
• 08:38–09:42 — Steven’s leadership and life advice
• 09:42–10:06 — Final message & call to action

---

This episode gives a comprehensive look at how AI is shaking up the field of rare disease treatment, pairing Steven Ringel’s compelling personal story with insightful analysis of industry and regulatory trends. It's a must-listen for anyone interested in the intersection of technology, medicine, and patient advocacy.

Transcript

[A]

Hello and welcome to a special combined episode of the Becker's Healthcare Becker Business and Becker Private Equity Podcast. My name is Chanel Bunger and today I'm excited to speak with Steven Ringle, the CEO of the Kizuna foundation and GNOME Therapeutics. And he joins us today to talk on the subject of using AI to build treatments that rare disease families deserve. Some trends that he's keeping an eye on and a bit more. Stephen, thank you so much for joining me.

[B]

Thanks so much for having me.

[A]

Perfect. Now, before we get into everything, can you start us out by introducing yourself self and talking a bit about the foundation and GNOME Therapeutics?

[B]

Yeah, of course. Well, first and foremost, I'm an ultra rare disease patient and sibling. When I was 17, I was diagnosed with an inherited retinal disease, which means I'm going blind over time. And a few years later, my younger sister was diagnosed with the same thing. For me, that was a lightning rod moment where I knew I had to do something about the problem. I didn't know what. So I spent the next decade working in various commercial leadership roles at large and small companies in the precision medicine industry. Really just educating myself about the state of healthcare and what could possibly be done for rare patients like us after that length of time, really figured out that it was possible to build a custom therapy for ultra rare disease patients like us with existing technologies. And that's what spawned Kizuna foundation where we are a 501C3 building a custom gene therapy for our very small 18 diagnosed patient in the US patient population. And through that experience, I really started to understand that this wasn't just about, you know, R1 condition or a few conditions. This was really about, you know, personalized medicine taking hold and scaling and really being an option for many more patients. However, through my own experience and watching others like us build, we thought that it wasn't really possible for the average parent or patient or clinician to build a drug, which is very, very difficult. And that's why we started GNOME Therapeutics. GNOME is making it easy to go build those custom therapeutics. And it's doing that by leveraging artificial intelligence to scale a lot of the intelligence that experts have and put that in the palm of any individual patient, parent or clinician, so that they too can build a custom drug, which is something that as a patient, I can say is very, very desired.

[A]

Perfect. Thank you so much for that introduction. And now can you talk a bit about how GNOME is using AI to build treatments for rare diseases?

[B]

For sure. We really see that there's an access gap to even the first steps of the process of who is the right patient for. For a potential custom medicine. These are complicated therapies. There are many factors that go into whether it's appropriate for any patient to receive one and whether it's even possible to go make one for a given patient. It's not always something that can be done. And so instead of having experts kind of comb databases for months on end, we thought that artificial intelligence could do that better. So we have built an engine that's able to call dozens of different databases, interpret what's coming out of those databases like an expert would, and put that together into a single score, 0 to 100. That makes it super clear whether it's a good idea and whether it's possible for a custom drug to be made for any given patients. The way that we are going to first bringing this to market and deploying it is by making it really easy for any patient just to go online, share a little bit of their information with us, which of course we protect as we would with any patient's information. And then we, on their behalf, query our own AI database and come back to them with a report. That report tells them, this is a great idea. It's 70 out of 100 likely that this is going to work for you or maybe something else, maybe it won't work for them. But either way, we bring that clarity to patients. In the event that it is a good idea and that there is a high probability that something like this could work, we've then got team that's able to help those patients and families take the next step in developing a custom medicine just for their condition.

[A]

That's amazing to hear. And now zooming out a bit, can you talk about the trends that you're watching in AI and healthcare overall today?

[B]

Yeah, for sure. I mean, this really matters as a problem. So just at the top line, there's over 300 million patients globally living with rare disease, and that's about six times the amount of cancer patients. Despite that, there's a fraction of the amount of investment into rare disease, because as everybody knows, traditionally it's been very hard to make a return building rare disease therapeutics. So that's kind of the state of affairs. But some stuff is changing. And specifically, there's three trends that I've really been paying attention to that got me excited to try to scale up an AI solution here. The first one is a major shift in regulatory guidance, specifically in the United States. Right now we're hearing comments from Prasad that likely in the next few weeks even there's coming new guidance about encoding the possibility for N equals one, you know, one individual patient to get a drug made just for them in a way that is very efficient from a regulatory process. And that's something that's been a little bit in the gray area historically. And so having that clarity is really going to further accelerate the field of building individualized medicines. The second one is that there are a lot of companies out there who are trying to develop what we'll call platform medicines. So something that can be thought of as a process or technology backed versus a single asset. In the past five years alone, 40% of new biotechs that have been created are platform companies. And those companies have received two thirds of all venture capital funding. That is a trend that's really accelerating now. And I even had one BMS executive tell me that back in the 80s, when the original Orphan Drug act passed, there were about three basic classes of medicine, but now there's over a dozen and growing. And so we're seeing drugs come to market as not individual therapies, but as platforms. And as that happens, it means it's more important than ever to think about the full ability for that platform to reach as many patients as possible. And then the last thing is that not only are there lots of patients out there with rare diseases, but we're actually finding them faster than ever. About 400,000 new patients are diagnosed every year with a rare disease, and that's growing 60% year over year as genetic diagnoses continue to penetrate healthcare. And with those new diagnoses, it's now possible to understand which conditions are out there, where are these patients, and think about who is the right patient to receive a custom therapy. So when you put those three trends together, it really starts to scream that there's an opportunity here to, to serve these patients differently if we can do it at an affordable cost at scale. And that's really why we think artificial intelligence is. Intelligence is incredibly important here.

[A]

Absolutely. Got it, got it. And now looking into the future a bit, can you talk about what you're most focused on and excited about going into the end of 2025 and into 2026 for sure.

[B]

I'm really excited to see the continued drum beat of progress from many different angles and organizations in the world of personalized medicine. So building on the success of Baby KJ this summer at University of Pennsylvania, a custom gene therapy there, we've continued to see many other academic institutions take on the role of drugmaker places like Boston, Children's, Mayo, Columbia, Rady, St. Jude, just to name a few. We're seeing tremendous work out of those groups and I'm very excited to see them continue to invest in their programs. At the same time, I'm also very excited to see that same type of work going on in patient organizations. I have one myself, as you mentioned, and we're building a custom medicine. But I've also been just so inspired by many other parents and patients doing this work. One that I call out that has recently gotten some interesting and exciting approvals is LPITA Therapeutics. But there are dozens that I've had the privilege of meeting in the last year or two. And I'm really excited to see more and more of those form as families start to wake up and realize that actually it's possible to do something about the diseases that they're suffering with.

[A]

Got it. Got it. And with all of your experience and passion, I'm curious to hear what advice you would give to evolving litters maybe looking to have the same drive and success in their careers as you have.

[B]

Two main things I think the first one is we are definitely in a grind hustle culture, but it's really important to take care of your body. I personally meditate a lot and I meditate twice on really hard or stressful days. I think it's so important to make sure that you have that ability to take a step back, breathe and get some mental clarity and focus. The other one is just what you said where really passion for what you're doing makes all the difference. I mean, there are so many different challenges of both being a visually impaired patient itself, let alone, you know, building two organizations at once. But for me, like, it's so important that these efforts succeed, that I love every day working on it, challenges and all. So I think for any leader listening, hopefully those are two useful pieces of advice.

[A]

Excellent advice. Well, I want to thank you for your time today, but before I let you go, is there anything else that listeners should know?

[B]

Thanks so much for having me. The only thing to know for listeners is if you are interested in trying to figure out if custom medicine would be right for you if you're a rare disease patient or parent or family member that hasn't been served with any options and you want to change that, just visit us at Gnome Bio and we can help you.

[A]

Well, that's a great way to end our conversation. Steven, I want to thank you once again for joining me today and for sharing your insights on the Becker's healthcare Becker Business and Becker Private Equity podcast. Thank you so much.