Interview with Keith Booher
Showcase Track S1, Day 2 / February 6th: AI and Data Sciences Showcase
1. Your talk emphasizes AI-driven workflows for identifying repurposed drugs. Can you share a specific case where your platform identified a treatment for a rare disease, and how it impacted patient outcomes?”
Yes, absolutely… But first of all, I need to emphasize the highly productive partnership we’ve developed with Unravel Biosciences, our industry partner based in Boston. By coupling Zymo Research’s sample preparation and next-generation sequencing (NGS) workflows with their data analysis platform, we’ve seen huge potential for AI to positively impact patients who may have nowhere else to turn.
As one illustrative example, a pediatric neurologist connected Unravel Biosciences to a patient with a severe and progressive form of KMT2B dystonia living in remote Arizona. Using Unravel’s rareSHIFT https://www.rareshift.org/ program, which provides access to their AI discovery platform, RNA samples from the patient and a healthy control relative were collected using Zymo’s nasal swabs with DNA/RNA Shield https://www.zymoresearch.com/pages/sample-storage-ambient-temperature preservation solution, returned by mail, and sequenced by Zymo. The transcriptome data was analyzed using Unravel’s BioNAV AI software, which identified a new therapeutic mechanism that could be targeted with an existing drug. The patient’s clinician prescribed the drug, and within days the boy showed remarkable improvements: his dystonia symptoms ceased, his sleep normalized (from 30–60 minutes per night to full, restful sleep), his ADHD symptoms dramatically decreased (allowing him to focus on tasks for 5–9 minutes instead of 20–30 seconds), and probably most importantly of all, he recovered significant ability to communicate with his family. He quickly began to understand instructions, which enabled his family to take him to the store and other public places, and after a few months he even started to use sign language as a form of self-expression, all despite having lost the ability to speak 4 years before. Unravel published a video sharing this patient’s story: https://www.youtube.com/watch?v=LmcvbzHQzvM
The company now works on over 40 rare disease programs and has collected more than 1,300 samples, which correspond to hundreds of patients, all using Zymo’s DNA/RNA Shield home collection kits and the jointly developed RNA extraction and NGS workflow. All of the programs where patients have worked with their clinical team to test a drug have led to similar clinical successes. Looking ahead, the company is initiating several clinical trials that will rely on frequent sample collection using Zymo kits as a way to boost their AI dataset and accelerate the discovery of novel disease biology.
2. AI solutions often face challenges in accessibility for smaller labs or institutions. How does Zymo’s workflow democratize access to AI-driven drug discovery, and what steps do you see as critical for broader adoption?
Zymo has developed a robust nucleic acid stabilization solution called DNA/RNA Shield that preserves the genetic integrity and expression profiles of samples at room temperature, which is critical in generating high-quality -omics datasets needed to utilize AI’s full potential. This, together with self-collection methods like nasal/oral swabs or finger prick devices, has enabled companies like Unravel and many other researchers to decentralize sample collection. The ease of self-collection together with being able to ship DNA and RNA around the world at ambient temperature (no cold chain) has unlocked connections between patients, researchers, and clinicians. Patients are no longer required to travel to a center of excellence or even leave their home. This has accelerated drug discovery by companies like Unravel, enabling them to build new databases of primary patient data from highly diverse ethnicities and geographies to fuel their AI pipeline within just a few months. Furthermore, Unravel started the rareSHIFT program precisely to offer other groups and even individuals access to their powerful platform. We see this as a great example of how key innovative technologies—such as Zymo’s self-collection kits and NGS workflows, combined with Unravel’s AI-driven drug discovery platform—can dramatically accelerate drug development and ensure that effective treatment options are available for all patients, no matter how rare their condition or how remote their location.
3. Looking ahead 5-10 years, how do you see AI and multi-omics shaping the future of personalized medicine, particularly in addressing unmet medical needs?
As an example of future possibilities, Unravel has closed the loop between patients and effective treatments using AI and Zymo’s sample collection kits. This process takes only a month or two, enabling patients to work with their clinicians to identify repurposed drug candidates they can test today, while also validating drug targets to build even more effective treatments for tomorrow. We collaborate with Unravel to tackle rare, ultra-rare, and even completely unique N-of-1 disorders across six continents. This represents a paradigm shift in both clinical care and novel drug development for even the rarest and complex of disorders. We envision a future where AI, combined with global sample collection, accelerates the pace of drug discovery by enabling large-scale personalized omics data collection, decentralized clinical trials, and a personalized N-of-1 approach to all disorders, even relatively common disorders like Alzheimer’s, neuropsychiatric disorders, autoimmune diseases, and infectious diseases.
